Familial amyloidosis of Ostertag.
A 23 year old Englishman presented with keratoconjunctivitis sicca and was found to have systemic amyloidosis. Five members of his family in two generations also had non-neuropathic amyloid particularly affecting the kidneys. This conforms to the Ostertag type of hereditary amyloidosis. Amyloid deposits in the proband showed permanganate-sensitive Congophilia and positive immunofluorescence staining for P component, but were negative for amyloid A and prealbumin. These observations suggested that the fibril protein in this patient was immunochemically distinct from the amyloid fibrils characterized hitherto.
D000328:Adult; D000682:Amyloid / Q000032:analysis; D000686:Amyloidosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007637:Keratoconjunctivitis / Q000209:etiology; D007674:Kidney Diseases / Q000209:etiology / Q000235:genetics / Q000473:pathology; D007678:Kidney Glomerulus / Q000473:pathology; D008297:Male; D010375:Pedigree; D012007:Rectum / Q000473:pathology; D012470:Salivary Glands, Minor / Q000473:pathology; D000683:Serum Amyloid P-Component
D000682:Amyloid; D000683:Serum Amyloid P-Component