Fechtner Syndrome-A Variant of Alport’s Syndrome With Leukocyte Inclusions and Macrothrombocytopenia By LoAnn
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منابع مشابه
Fechtner 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 کاملگزارش 1 مورد نفریت ارثی نادر(سندرم Fechtner)
Fechtner syndrome is an autosomal dominant syndrome which is defined by cataract, sensory neural hearing loss, kidney involvement, macrothrombocytopenia and neutrophilic inclusion bodies. We report a 21-year-old man with a history of idiopathic thrombocytopenic purpura, cataract and hearing loss who was admitted for work up renal failure. His blood smear showed macrothrombocytopenia...
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 ...
متن کاملHEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Autosomal-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 ...
متن کاملDouble nucleotidic mutation of the MYH9 gene in a young patient with end-stage renal disease.
Alport’s syndrome, a renal disorder with inherited transmission, is characterized by ultrastructural changes of glomerular basement membrane and basement membranes elsewhere. A progressive haematuric nephritis, sensorineural hearing loss and familial occurrence in successive generations are typical of this disorder. X-linked dominant inheritance is quite frequent (85–90% of the families) [1]. A...
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تاریخ انتشار 2005