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Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus

J. M. Langley

Division of Nephrology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

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Dr. J. W. Balfe,

Corresponding Author

Dr. J. W. Balfe

Division of Nephrology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

Division of Nephrology, Department of Pediatrics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8Search for more papers by this author

T. Selander,

T. Selander

Division of Clinical Genetics, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

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P. N. Ray,

P. N. Ray

Division of Clinical Genetics, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

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J. T. R. Clarke,

J. T. R. Clarke

Division of Clinical Genetics, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

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J. M. Langley,

J. M. Langley

Division of Nephrology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

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Dr. J. W. Balfe,

Corresponding Author

Dr. J. W. Balfe

Division of Nephrology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

Division of Nephrology, Department of Pediatrics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8Search for more papers by this author

T. Selander,

T. Selander

Division of Clinical Genetics, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

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P. N. Ray,

P. N. Ray

Division of Clinical Genetics, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

Search for more papers by this author

J. T. R. Clarke,

J. T. R. Clarke

Division of Clinical Genetics, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

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First published: 1 January 1991

https://doi.org/10.1002/ajmg.1320380120

Citations: 50

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Abstract

We report on 2 intellectually normal sisters with vasopressin-resistant (nephrogenic) diabetes insipidus (NDI). The sex of the patients, the history of parental consanguinity, and the fact that both parents formed normally concentrated urine suggested that the NDI in the 2 sisters was the result of inheritance of an autosomal recessive mutation affecting renal tubular water reabsorption. The results of DNA analysis of the DXS52 locus with the use of St14 as probe, shown by Knoers et al. [1988] to be tightly linked to the NDI locus on the X-chromosome, showed that each girl inherited different Xq28 regions of the maternal X chromosomes, ruling out a diagnosis of classical X-linked NDI.

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Volume38, Issue1

1 January 1991

Pages 90-94

Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus

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Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus

Abstract

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