Nephrogenic diabetes insipidus in an Australian aboriginal kindred.
Four Australian aboriginal children were found to have nephrogenic diabetes insipidus. They are the sons of 3 sisters who were shown to have a urinary concentrating defect uncorrected by vasopressin. An extensive genealogy did not reveal any caucasian genetic influence suggesting that a new genetic mutation was responsible.
D001315:Australia; D003919:Diabetes Insipidus / Q000235:genetics* / Q000503:physiopathology / Q000652:urine; D005260:Female; D005808:Genes, Recessive; D005828:Genetics, Population; D006801:Humans; D007223:Infant; D007671:Kidney Concentrating Ability; D007684:Kidney Tubules / Q000002:abnormalities*; D008297:Male; D009154:Mutation; D010375:Pedigree; D014552:Urinary Tract Infections; D000095283:Australian Aboriginal and Torres Strait Islander Peoples