کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3803699 1244947 2015 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Inherited metabolic renal disorders in children
ترجمه فارسی عنوان
اختلالات متابولیک کلیه در کودکان
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پزشکی و دندانپزشکی (عمومی)
چکیده انگلیسی
Inherited metabolic conditions of the kidney are uncommon but require consideration as diagnostic clarity informs specific treatment which improves outcomes considerably and allows children with life limiting disorders to experience greater longevity. This article focuses on four conditions, cystinosis, methylmalonic aciduria (MMA), primary hyperoxaluria and Fabry's disease. These conditions often present with renal impairment, predominantly in childhood, but with appropriate treatments survival well into adult life is becoming more common. Recognition of the genetic mutations, phenotypic variability and specific treatment options can improve long term prognosis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Medicine - Volume 43, Issue 7, July 2015, Pages 407-410
نویسندگان
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