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...

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Veröffentlicht in:	Human genetics 1975-01, Vol.26 (1), p.79-85
Hauptverfasser:	Schultz, P, Lines, D R
Format:	Artikel
Sprache:	eng
Schlagworte:	Australia Australian Aboriginal and Torres Strait Islander Peoples Diabetes Insipidus - genetics Diabetes Insipidus - physiopathology Diabetes Insipidus - urine Female Genes, Recessive Genetics, Population Humans Infant Kidney Concentrating Ability Kidney Tubules - abnormalities Male Mutation Pedigree Urinary Tract Infections
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Zusammenfassung:	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.
ISSN:	0018-7348 0340-6717 1432-1203
DOI:	10.1007/BF00280288