Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.

doi:10.1007/s00431-015-2534-4

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Article

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.

European journal of pediatrics - 1 Oct 2015

García Castaño Alejandro, Pérez de Nanclares Gustavo, Madariaga Leire, Aguirre Mireia, Chocron Sara, Madrid Alvaro, Lafita Tejedor Francisco Javier, Gil Campos Mercedes, Sánchez Del Pozo Jaime, Ruiz Cano Rafael, Espino Mar, Gomez Vida Jose Maria, Santos Fernando, García Nieto Victor Manuel, Loza Reyner, Rodríguez Luis Miguel, Hidalgo Barquero Emilia, Printza Nikoleta, Camacho Juan Antonio, Castaño Luis, Ariceta Gema

Abstract excerpt

UNLABELLED: Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations in a cohort of 25 patients with clinical diagnosis of NDI. Patients presented with dehydration, polyuria-polydipsia, failure to thrive (mean ± SD; Z-height -1.9 ± 2.1 and...

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Identifiers

PMID: 25902753
DOI: 10.1007/s00431-015-2534-4

Genes

AVPR2
AQP2

Variants

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