Hereditary nephritis with macrothrombocytopenia: no longer an Alport syndrome variant
نویسندگان
چکیده
منابع مشابه
Wiskott-Aldrich syndrome with macrothrombocytopenia.
BACKGROUND Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder with a variable phenotype. CASE CHARACTERISTICS 3.5-year-old boy diagnosed with Wiskott-Aldrich syndrome. OBSERVATION Unusual and persistent thrombocytopenia with increased platelet volume (>10fL). He did not exhibit characteristic clinical and laboratory finding for the syndrome. OUTCOME Maternally inherited...
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Alport syndrome refers to a hereditary disorder characterized by progressive renal disease and a multilaminar appearance to the glomerular basement membrane (GBM). In a small group of patients with Alport syndrome, cyclosporine A was reported to decrease proteinuria and maintain stable renal function over 7 to 10 yr of follow-up. The present study examined the effect of cyclosporine A on GBM st...
متن کاملFechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia.
This study reports a family comprising four generations in whom nephritis, deafness, congenital cataracts, macrothrombocytopenia, and leukocyte inclusions were observed in varying combinations in eight of 17 members. The family differs from others reported in that their hematologic abnormalities include not only macrothrombocytopenia, but also small, pale blue cytoplasmic inclusions in the neut...
متن کاملFechtner Syndrome-A Variant of Alport’s Syndrome With Leukocyte Inclusions and Macrothrombocytopenia By LoAnn
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متن کاملAutosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13.
Families with 3 different syndromes characterized by autosomal dominant inheritance of low platelet count and giant platelets were studied. Fechtner syndrome is an autosomal-dominant variant of Alport syndrome manifested by nephritis, sensorineural hearing loss, and cataract formation in addition to macrothrombocytopenia and polymorphonuclear inclusion bodies. Sebastian platelet syndrome is an ...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2001
ISSN: 1460-2385,0931-0509
DOI: 10.1093/ndt/16.6.1101