Familial type of nephrogenic diabetes insipidus with partially preserved renal concentration function, which is caused by homozygous D150E mutation in the aquaporin-2 (AQP-2) gene
https://doi.org/10.14341/probl200753513-18
Abstract
Nephrogenic diabetes Insipidus (NDI) is a heterogeneous disease in the etiopathogenesis of which acquired and congenital factors may be of importance. The authors describe a case of the familial type of NDI caused by aquaporin-2 deficiency. A 9-year-old boy and a 2-year-old girl, bom to closely related parents, were observed to have polydipsia and polyuria in the first months of life. A water deprivation test carried out in both children indicated the capacity of partially concentrate urine (urinary osmolality being increased from 160 to 614 m Osmol/kg in the boy and from 247 to 487 m Osmol/kg in the girl). At the same time, plasma osmolality changed from 229 to 252 m Osmol/kg in the boy and from 270 to 283 mOsmol/kg In the girl. Urinary osmolality remained unchanged after oral administration of minirin, 10: The dDAVP test using intranasalminirin, 20showed the elevated plasma concentrations of clotting factors (factor VIII and von Willebrand factor). Molecular genetic analysis of the AQP2 gene in both children revealed homozygous missense mutation in exon 2, leading to the substitution of aspartic acid for glutamic acid in position 150 (D150E). Their mother without clinical signs of NDI was found to be this mutation heterozygous. Therefore, D150E mutation in the AQP2 gene was detected in 2 siblings with NDI and partially preserved renal concentration function.
About the Authors
A. N. TyulpakovEndocrinology Research Centre
Russian Federation
P. M. Rubtsov
Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences
Russian Federation
A. N. Shandin
Endocrinology Research Centre
Russian Federation
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Review
For citations:
Tyulpakov A.N., Rubtsov P.M., Shandin A.N. Familial type of nephrogenic diabetes insipidus with partially preserved renal concentration function, which is caused by homozygous D150E mutation in the aquaporin-2 (AQP-2) gene. Problems of Endocrinology. 2007;53(5):13-18. (In Russ.) https://doi.org/10.14341/probl200753513-18
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