fa شناسائی اختلالات متابولیک ارثی در ایران: گزارش نخستین داده‌های سامانه ملی طب کودکان پژوهشي Research <p dir="rtl"><span style="font-size:11pt"><span style="line-height:17pt"><span style="font-family:Calibri, sans-serif"><span style="color:#000000"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="vertical-align:middle"><span style="direction:rtl"><span style="unicode-bidi:embed"><b><span lang="AR-SA" style="font-size:15pt"><span b="" mitra="" style="font-family:"><span style="color:#16469d">چکیده</span></span></span></b><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:#16469d"></span></span></span></span></span></span></span></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:17pt"><span style="font-family:Calibri, sans-serif"><span style="color:#000000"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="vertical-align:middle"><span style="direction:rtl"><span style="unicode-bidi:embed"><b><span lang="FA" style="font-size:12.5pt"><span b="" mitra="" style="font-family:"><span style="color:black">زمینه</span></span></span></b><b><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span b="" mitra="" style="font-family:"><span style="color:black">:</span></span></span></b> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">خطاهای</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">مادرزادی</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">متابولیسم</span></span></span><span dir="LTR" lang="EN-US" style="font-size:10pt"><span style="font-family:Mitra"><span style="color:black"> (</span></span></span><span dir="LTR" lang="EN-US" style="font-size:10pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">Inborn</span></span></span> <span dir="LTR" lang="EN-US" style="font-size:10pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">Errors</span></span></span> <span dir="LTR" lang="EN-US" style="font-size:10pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">of</span></span></span> <span dir="LTR" lang="EN-US" style="font-size:10pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">Metabolism;</span></span></span> <span dir="LTR" lang="EN-US" style="font-size:10pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">IEMs</span></span></span><span dir="LTR" lang="EN-US" style="font-size:10pt"><span style="font-family:Mitra"><span style="color:black">)</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">شامل</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">بیش</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">از</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> 1000 </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">نوع</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">اختلال</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">مختلف</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">هستند</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> (1</span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">،</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">2). </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">مطالعات</span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">اپیدمیولوژیک،</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">تنوع</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">وسیع</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">جغرافیایی</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">و</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">نژادی</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">را</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">در</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">شیوع</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">تولد</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">جهانی</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">این</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">اختلالات</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">و</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">الگوهای</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">وراثتی</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">آن</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="color:black">‌</span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">ها</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">گزارش</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">کرده</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="color:black">‌</span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">اند</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">.</span></span></span></span></span></span></span></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:17pt"><span style="font-family:Calibri, sans-serif"><span style="color:#000000"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="vertical-align:middle"><span style="direction:rtl"><span style="unicode-bidi:embed"><b><span lang="FA" style="font-size:12.5pt"><span b="" mitra="" style="font-family:"><span style="color:black">روش</span></span></span></b><b> </b><b><span lang="FA" style="font-size:12.5pt"><span b="" mitra="" style="font-family:"><span style="color:black">کار</span></span></span></b><b><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span b="" mitra="" style="font-family:"><span style="color:black">:</span></span></span></b> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">سامانه</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">ثبت</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">ملی</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">بیماری</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="color:black">‌</span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">های</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">متابولیک</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">ایران</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">از</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">مارس</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> 2017 </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">آغاز</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">به</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">کار</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">نمود</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">. </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">تمامی</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">بیمارانی</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">که</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">از</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">سال</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> 2017 </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">تا</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">ژوئیه</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> 2022 </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">با</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">تشخیص</span></span></span> <span dir="LTR" lang="EN-US" style="font-size:10pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">IEM</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">در</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">این</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">سامانه</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">ثبت</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">شده</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">بودند،</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">در</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">این</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">مطالعه</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">وارد</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">شدند</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">.</span></span></span></span></span></span></span></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:17pt"><span style="font-family:Calibri, sans-serif"><span style="color:#000000"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="vertical-align:middle"><span style="direction:rtl"><span style="unicode-bidi:embed"><b><span lang="FA" style="font-size:12.5pt"><span b="" mitra="" style="font-family:"><span style="color:black">یافته</span></span></span></b><b><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="color:black">‌</span></span></b><b><span lang="FA" style="font-size:12.5pt"><span b="" mitra="" style="font-family:"><span style="color:black">ها</span></span></span></b><b><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span b="" mitra="" style="font-family:"><span style="color:black">: </span></span></span></b><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">در</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">طول</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">پنج</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">سال،</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">تعداد</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> 1233 </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">بیمار</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">در</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">پایگاه</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">داده</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">ثبت</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">گردید</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">. </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">به</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">دلیل</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">نقص</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">اطلاعات،</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> 320 </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">بیمار</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">از</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">مطالعه</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">خارج</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">شدند</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">. </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">از</span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">میان</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> 913 </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">بیمار</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">ثبت</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="color:black">‌</span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">شده،</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> 402 </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">نفر</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">زن</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">و</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> 511 </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">نفر</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">مرد</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">بودند</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">. </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">میانه</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">سنی</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">بیماران</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">ثبت</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="color:black">‌</span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">شده</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> 10</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">/</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">3 </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">سال</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> (</span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">از</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">یک</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">هفته</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">تا</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> 48</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">/</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">3 </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">سال</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">) </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">بود</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">.</span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">شایع</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="color:black">‌</span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">ترین</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">گروه</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">اختلالات</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">متابولیک،</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">اختلالات</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">اسیدهای</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">آمینه</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">با</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> 596 </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">بیمار</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black"> (</span></span></span><span lang="FA" style="font-size:12.5pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">٪</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">66</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">/</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">6) </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">بود</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">. </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">میزان</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">مرگ</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="color:black">‌</span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">ومیر</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">بیماران</span></span></span> <span lang="FA" style="font-size:12.5pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">٪</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">36</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">/</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">5 </span></span></span><span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">گزارش</span></span></span> <span lang="FA" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">شد</span></span></span><span dir="LTR" lang="EN-US" style="font-size:12.5pt"><span style="font-family:Mitra"><span style="color:black">.</span></span></span></span></span></span></span></span></span></span></span></span></span></span><br> <b style="color:#000000; font-style:normal; text-align:start; white-space:normal; text-decoration:none"><span dir="RTL" lang="FA" style="font-size:12.5pt"><span style="line-height:17.833332px"><span b="" mitra="" style="font-family:"><span style="color:black">نتیجه</span></span></span></span><span lang="EN-US" style="font-size:12.5pt"><span style="line-height:17.833332px"><span style="font-family:Calibri, sans-serif"><span style="color:black">‌</span></span></span></span><span dir="RTL" lang="FA" style="font-size:12.5pt"><span style="line-height:17.833332px"><span b="" mitra="" style="font-family:"><span style="color:black">گیری</span></span></span></span><span lang="EN-US" style="font-size:12.5pt"><span style="line-height:17.833332px"><span b="" mitra="" style="font-family:"><span style="color:black">:</span></span></span></span></b> <span dir="RTL" lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black">این</span></span></span></span></span></span></span></span><span lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black"> مطالعه نخستین گزارش حاصل از سامانه ثبت بیماران </span></span></span></span></span></span></span></span><span lang="EN-US" style="font-size:10pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:14.266666px"><span new="" roman="" style="font-family:" times=""><span style="color:black">IEM</span></span></span></span></span></span></span></span> <span dir="RTL" lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black">در</span></span></span></span></span></span></span></span><span lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black"> ایران است</span></span></span></span></span></span></span></span><span lang="EN-US" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black">. </span></span></span></span></span></span></span></span><span dir="RTL" lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black">ایجاد</span></span></span></span></span></span></span></span><span lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black"> یک سامانه جامع ثبت بیماران مبتلا به</span></span></span></span></span></span></span></span><span lang="EN-US" style="font-size:10pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:14.266666px"><span new="" roman="" style="font-family:" times=""><span style="color:black">IEM</span></span></span></span></span></span></span></span> <span dir="RTL" lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black">به</span></span></span></span></span></span></span></span><span lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black"> منظور گردآوری داده</span></span></span></span></span></span></span></span><span lang="EN-US" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Calibri, sans-serif"><span style="color:black">‌</span></span></span></span></span></span></span></span><span dir="RTL" lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black">های</span></span></span></span></span></span></span></span><span lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black"> بیماران می</span></span></span></span></span></span></span></span><span lang="EN-US" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Calibri, sans-serif"><span style="color:black">‌</span></span></span></span></span></span></span></span><span dir="RTL" lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black">تواند</span></span></span></span></span></span></span></span><span lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black"> به پزشکان در تشخیص دقیق</span></span></span></span></span></span></span></span><span lang="EN-US" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Calibri, sans-serif"><span style="color:black">‌</span></span></span></span></span></span></span></span><span dir="RTL" lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black">تر،</span></span></span></span></span></span></span></span><span lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black"> پایش و پیگیری بیماران کمک کند</span></span></span></span></span></span></span></span><span lang="EN-US" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black">. </span></span></span></span></span></span></span></span><span dir="RTL" lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black">علاوه</span></span></span></span></span></span></span></span><span lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black"> بر این، با برآوردبار بیماری</span></span></span></span></span></span></span></span><span lang="EN-US" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Calibri, sans-serif"><span style="color:black">‌</span></span></span></span></span></span></span></span><span dir="RTL" lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black">های</span></span></span></span></span></span></span></span><span lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black"> متابولیک ارثی، نظام سلامت و دولت قادر خواهند بود نیازهای دارویی و تجهیزاتی را به</span></span></span></span></span></span></span></span><span lang="EN-US" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Calibri, sans-serif"><span style="color:black">‌</span></span></span></span></span></span></span></span><span dir="RTL" lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black">طور</span></span></span></span></span></span></span></span><span lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black"> دقیق</span></span></span></span></span></span></span></span><span lang="EN-US" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Calibri, sans-serif"><span style="color:black">‌</span></span></span></span></span></span></span></span><span dir="RTL" lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black">تر</span></span></span></span></span></span></span></span><span lang="FA" style="font-size:12.5pt; text-align:start"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="line-height:17.833332px"><span style="font-family:Mitra"><span style="color:black"> ارزیابی نمایند</span></span></span></span></span></span></span></span></p> <p></p> <article> <p data-end="544" data-start="94"><span style="font-size:11pt"><span style="line-height:15.693334px"><span style="font-family:Calibri, sans-serif"><span style="color:#000000"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="vertical-align:middle"><b><span lang="EN-US" style="font-size:14pt"><span style="font-family:IRMitra"><span style="color:#16469d"><span style="letter-spacing:-0.05pt">Abstract</span></span></span></span></b></span></span></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:13pt"><span style="font-family:Calibri, sans-serif"><span style="color:#000000"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="vertical-align:middle"><b><span lang="EN-US" style="font-size:12pt"><span style="font-family:IRMitra"><span style="color:black"><span style="letter-spacing:-0.05pt">Background:</span></span></span></span></b><span lang="EN-US" style="font-size:10pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">Inborn errors of metabolism (IEMs) are a group of rare but potentially treatable genetic disorders. Their prevalence and patterns are particularly significant in communities with high rates of consanguineous marriage. This study aimed to present the first results from the Iran National Metabolic Registry and to analyze the frequencies, demographic patterns, and clinical outcomes of patients between 2017 and 2022.</span></span></span></span></span></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:13pt"><span style="font-family:Calibri, sans-serif"><span style="color:#000000"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="vertical-align:middle"><b><span lang="EN-US" style="font-size:12pt"><span style="font-family:IRMitra"><span style="color:black"><span style="letter-spacing:-0.3pt">Methods: </span></span></span></span></b><span lang="EN-US" style="font-size:10pt"><span new="" roman="" style="font-family:" times=""><span style="color:black">This was a retrospective descriptive study based on the national registry. All patients with a confirmed diagnosis of IEM from 30 medical universities and referral centers for metabolic disorders who were registered in the national database were included. Inclusion criteria were a confirmed clinical/biochemical diagnosis and, when available, genetic confirmation. Cases with incomplete data or uncertain diagnosis were excluded. Collected data included demographic, clinical, laboratory, and outcome information. Descriptive statistical analysis was performed, and indicators were reported with 95% confidence intervals (CI).</span></span></span></span></span></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:13pt"><span style="font-family:Calibri, sans-serif"><span style="color:#000000"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="vertical-align:middle"><b><span lang="EN-US" style="font-size:12pt"><span style="font-family:IRMitra"><span style="color:black"><span style="letter-spacing:-0.3pt">Results:</span></span></span></span></b><span lang="EN-US" style="font-size:10pt"><span new="" roman="" style="font-family:" times=""><span style="color:black"> Between 2017 and 2022, 1,233 patients were registered in the database. After excluding 320 incomplete cases, a total of 913 patients were analyzed (51.9% male). The mean age at diagnosis was 7.2 years, with a median age of 10.3 years. Forty-four percent of patients were offspring of consanguineous marriages. The most common group of disorders was amino acid and peptide metabolism disorders (66.6%; 95% CI: 63&ndash;69%). The most frequent individual disorders were phenylketonuria (PKU, 323 cases), tyrosinemia (127 cases), and organic acidemias (111 cases in total). The reported mortality rate was 36.5%.</span></span></span></span></span></span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:13pt"><span style="font-family:Calibri, sans-serif"><span style="color:#000000"><span style="font-style:normal"><span style="font-weight:400"><span style="white-space:normal"><span style="text-decoration:none"><span style="vertical-align:middle"><b><span lang="EN-US" style="font-size:12pt"><span style="font-family:IRMitra"><span style="color:black"><span style="letter-spacing:-0.3pt">Conclusion:</span></span></span></span></b><span lang="EN-US" style="font-size:10pt"><span new="" roman="" style="font-family:" times=""><span style="color:black"> This study provides the first national report on IEMs in Iran, showing that the majority of cases involve aminoacidopathies and organic acidemias. High rates of consanguinity significantly influence the disease pattern. Expanding national registry coverage, implementing broader newborn screening programs, and strengthening genetic diagnostic infrastructure are essential.</span></span></span></span></span></span></span></span></span></span></span></span></p> </article> ختلالات متابولیک ارثی, سامانه ثبت ملی, خطاهای مادرزادی متابولیسم Inborn Errors Metabolism , national Registry, inherited metabolic disorders 63 67 http://jmciri.ir/browse.php?a_code=A-10-2004-1&slc_lang=fa&sid=1 Farzaneh Abbasi فرزانه عباسی farzanehabbasi33@yahoo.com 100319475328460010775 100319475328460010775 Yes Growth and development research center,children's medical center hospital, Tehran university of medical sciences,Tehran,Iran مرکز تحقیقات رشد و تکامل،بیمارستان مرکز طبی کودکان،دانشگاه علوم پزشکی تهران،تهران، ایران Reyhaneh Mohsenipour ریحانه محسنی پور rmohsenipour@yahoo.com 100319475328460010776 100319475328460010776 No Growth and development research center,children's medical center hospital, Tehran university of medical sciences,Tehran,Iran مرکز تحقیقات رشد و تکامل،بیمارستان مرکز طبی کودکان،دانشگاه علوم پزشکی تهران،تهران ایران