[Syndrome of optic nerve atrophy, diabetes mellitus and diabetes insipidus].
The paper is concerned with a case of a familial variant of the hereditary De Lawter syndrome, optic nerve atrophy coupled with diabetes mellitus and insipidus. Double diabetes was detected in two brothers. Their uncle suffered from deaf-mutism. Diabetes mellitus was insulin-dependent, diabetes insipidus responded well to adiurekrin, pituitrin, chloropropamide; optic nerve atrophy was characterized by white discs with clearly defined borders. Apparently, the syndrome is based on several mutant genes the action of which manifests as isolated and in different combinations as well.
Kolomoĭskaia
M B
MB
D002648:Child; D003919:Diabetes Insipidus / Q000188:drug therapy / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
O sindrome atrofii zritel'nykh nervov, sakharnogo i nesakharnogo diabeta.