title: Alport's syndrome associated with macrothrombopathic thrombocytopenia.
abstract: The combined occurrence of hereditary nephritis with nerve deafness (Alport's syndrome) and macrothrombocytopathic thrombocytopenia is very rare. The authors have had the opportunity to study such a case in a 20-year-old man who had been followed since birth. The clinical history, renal biopsy, platelet studies, and autopsy findings are presented. The renal pathologic findings are well defined; however, the hemostatic abnormalities and the hearing loss are not well characterized. In this paper, an attept is made to clarify the diverse platelet functional and morphologic abnormalties.
mesh_terms: D000328:Adult; D001344:Autopsy; D001706:Biopsy; D001792:Blood Platelets / Q000502:physiology; D005260:Female; D005921:Glomerulonephritis / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D009394:Nephritis, Hereditary / Q000097:blood / Q000150:complications / Q000473:pathology*; D013921:Thrombocytopenia / Q000097:blood / Q000150:complications / Q000473:pathology*