کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3503264 1234571 2005 12 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Porphyrias
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پزشکی و دندانپزشکی (عمومی)
پیش نمایش صفحه اول مقاله
Porphyrias
چکیده انگلیسی

SummarySeven different porphyrias form a group of inherited metabolic disorders, each resulting from a partial deficiency of a specific enzyme in the haem biosynthesis pathway. Clinically, the three most important entities are an acute porphyric attack and acute and chronic skin symptoms. Porphyrias are rare and sometimes misdiagnosed, because various symptoms and signs mimic other diseases. Once porphyria is suspected, biochemical analyses easily detect porphyrins and their precursors from blood, urine, or faeces. Mutation screening can be done at the quiescent phase of the disease. Pathogenetic mechanisms and clinical manifestations differ in individual porphyrias and most of them require a specific treatment. Early diagnosis and information about precipitating factors can diminish mortality and prevent subsequent attacks among patients with acute porphyrias, so mutation screening is recommended for family members.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: - Volume 365, Issue 9455, 15 January 2005, Pages 241–252
نویسندگان
,