بررسی یک مورد بیماری Niemann Pick تیپ A
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چکیده مقاله:
Niemann Pick type A is a very rare hereditary disease with an incidence 1 in 20000-40000 live birth, which is calassified as a shingolipidoses. The disease is marked by the abnormal accumulation of sphingomyelin in most tissues, secondary to sphingomylinase deficiency. The most clinical manifestations are: Splenohepatomegaly–cherry red maculae-neuropathologic findings . This is a case report of an infant with clinical manifestation of Niemann Pick disease type A.
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بررسی یک مورد بیماری niemann pick تیپ a
بیماریniemann pick a یکی ازبیماری های متابولیک از دسته sphingolipidoses می باشد که درآن کمبود آنزیم sphingomyelinase سبب تجمع غیر طبیعی اسفنگو میلین در نسوج مختلف بدن شده و در نتیجه علائم بالینی مختلف را به وجود می آورد که مهمترین آنها عبارتند از : بزرگی کبد و طحال- وجود لکه cherry red در ماکولای چشم- اختلالات عصبی- وجود سلول های foam در مغز استخوان و کبد و طحال. شیوع بیماری 1 به 20 هزار تا 1به...
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متن کاملNiemann-Pick disease.
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متن کاملNiemann-Pick diseases.
The Niemann-Pick disease group is now divided into two distinct entities: (1) acid sphingomyelinase-deficient Niemann-Pick disease (ASM-deficient NPD) resulting from mutations in the SMPD1 gene and encompassing type A and type B as well as intermediate forms; (2) Niemann-Pick disease type C (NP-C) including also type D, resulting from mutations in either the NPC1 or the NPC2 gene. Both Niemann-...
متن کاملNiemann-Pick Disease
In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice [5], nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of...
متن کاملInfant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow.
Bone marrow aspiration is the preliminary investigation in Niemann Pick disease type A when enzyme assays and mutation studies are unavailable. We report an infant with typical phenotype and enzyme deficiency, but undetectable Niemann Pick cells in the bone marrow. A new mutation R542X in SMPD gene was also detected.
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عنوان ژورنال
دوره 16 شماره 53
صفحات 112- 118
تاریخ انتشار 2006-08
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