Alport's syndrome associated with macrothrombopathic thrombocytopenia

Am J Clin Pathol. 1979 Jul;72(1):111-7. doi: 10.1093/ajcp/72.1.111.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Autopsy
  • Biopsy
  • Blood Platelets / physiology
  • Female
  • Glomerulonephritis / pathology
  • Humans
  • Kidney / pathology
  • Male
  • Nephritis, Hereditary / blood
  • Nephritis, Hereditary / complications
  • Nephritis, Hereditary / pathology*
  • Thrombocytopenia / blood
  • Thrombocytopenia / complications
  • Thrombocytopenia / pathology*