[A newly discovered kinship with hereditary amyloidneuropathy. Demonstration of increased enteral deconjugation of bile acids].
In a hitherto undescribed German kinship, 6 cases of slowly progessing peripheral polyneuropathy have been observed. The polyneuropathy affected all peripheral sensory qualities to a similar degree; the mode of inheritance seemed to be autosomal dominant. Four of the six cases had diarrhea, while two had steatorrhea and increased enteral deconjugation of bile acids. Amyloid was found in biopsies of peripheral nerves, arteries and gastric mucosa. This amyloidosis resembles the so-called Portuguese form of the hereditary amyloid polyneuropathies, except that the sensory loses were not dissociated. Increased enteral deconjugation of bile acids as demonstrated by an abnormal 14C-glycocholate breath test appears to contribute to the chronic diarrhea characteristic of this disease.
D000686:Amyloidosis / Q000235:genetics*; D001158:Arteries / Q000473:pathology; D001647:Bile Acids and Salts / Q000378:metabolism*; D002446:Celiac Disease / Q000209:etiology; D003967:Diarrhea / Q000209:etiology; D005260:Female; D005753:Gastric Mucosa / Q000473:pathology; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology
D001647:Bile Acids and Salts
Eine neuentdeckte Sippe mit hereditärer Amyloidneuropathie. Nachweis vermehrter enteraler Dekonjugation von Gallensäuren.