کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2177998 1549619 2016 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations
ترجمه فارسی عنوان
بیماری ولمن در بیماران مبتلا به جهش منفی lymphohistiocytosis hemophagocytic خانوادگی (FHL)
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیولوژی سلول
چکیده انگلیسی

BackgroundFamilial hemophagocytic lymphohistiocytosis is a rare autosomal recessive disease that is usually evident in the first few months or years of life. Major signs and symptoms include hepatomegaly, splenomegaly, anemia, leucopenia or thrombocytopenias which resemble many inborn errors of metabolism and lysosomal storage diseases in which hemophagocytic lymphohistiocytosis has also been reported as a secondary association.Case reportsWe report three children with hemophagocytic lymphohistiocytosis for whom mutation screening for the known four genes of FHL ((PRF1 (FHL2), UNC13D (FHL3), STX11 (FHL4), and STXBP2 (FHL5)) revealed no mutation, while sequencing of the LIPA gene confirmed the diagnosis of Wolman disease. Peculiar characteristics of these patients included absence of prominent fever, huge hepatomegaly and a severe failure to thrive.ConclusionWolman disease should be excluded in patients with clinical and laboratory characteristics of FHL and negative molecular testing especially if the fever is not prominent and is associated with relatively huge hepatomegaly and/or severe failure to thrive.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Egyptian Journal of Medical Human Genetics - Volume 17, Issue 3, July 2016, Pages 277–280
نویسندگان
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