Alport's syndrome associated with macrothrombopathic thrombocytopenia.
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.
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*