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

García Nieto, V.M.; Gil Campos, M.; Hidalgo Barquero, E.; Pérez de Nanclares, G.; Printza, N.; Camacho, J.A.; Aguirre, M.; Castaño, L.; RenalTube Group; Madariaga, L.; Gomez Vida, J.M.; Ruiz Cano, R.; Rodríguez, L.M.; Chocron, S.; Lafita Tejedor, F.J.; Espino, M.; Ariceta, G.; Madrid, A.; Loza, R.; Sánchez del Pozo, J.; Santos, F.; García Castaño, A.

dc.contributor.author	García Castaño, A.
dc.contributor.author	Pérez de Nanclares, G.
dc.contributor.author	Madariaga, L.
dc.contributor.author	Aguirre, M.
dc.contributor.author	Chocron, S.
dc.contributor.author	Madrid, A.
dc.contributor.author	Lafita Tejedor, F.J.
dc.contributor.author	Gil Campos, M.
dc.contributor.author	Sánchez del Pozo, J.
dc.contributor.author	Ruiz Cano, R.
dc.contributor.author	Espino, M.
dc.contributor.author	Gomez Vida, J.M.
dc.contributor.author	Santos, F.
dc.contributor.author	García Nieto, V.M.
dc.contributor.author	Loza, R.
dc.contributor.author	Rodríguez, L.M.
dc.contributor.author	Hidalgo Barquero, E.
dc.contributor.author	Printza, N.
dc.contributor.author	Camacho, J.A.
dc.contributor.author	Castaño, L.
dc.contributor.author	Ariceta, G.
dc.contributor.author	RenalTube Group
dc.date.accessioned	2019-04-24T18:23:52Z
dc.date.available	2019-04-24T18:23:52Z
dc.date.issued	2015
dc.identifier.uri	https://hdl.handle.net/20.500.12866/6466
dc.description.abstract	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 Z-weight −2.4 ± 1.7), severe hypernatremia (mean ± SD; Na 150 ± 10 mEq/L), increased plasma osmolality (mean ± SD; 311 ± 18 mOsm/Kg), but normal glomerular filtration rate. Genetic diagnosis revealed that 24 male patients were hemizygous for 17 different putative disease-causing mutations in the AVPR2 gene (each one in a different family). Of those, nine had not been previously reported, and eight were recurrent. Moreover, we found those same AVPR2 changes in 12 relatives who were heterozygous carriers. Further, in one female patient, AVPR2 gene study turned out to be negative and she was found to be homozygous for the novel AQP2 p.Ala86Val alteration. Conclusion: Genetic analysis presumably confirmed the diagnosis of nephrogenic diabetes insipidus in every patient of the studied cohort. We emphasize that we detected a high presence (50 %) of heterozygous females with clinical NDI symptoms.	en_US
dc.language.iso	eng
dc.publisher	Springer
dc.relation.ispartofseries	European Journal of Pediatrics
dc.rights	info:eu-repo/semantics/restrictedAccess
dc.rights.uri	https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject	aquaporin 2	en_US
dc.subject	argipressin receptor	en_US
dc.subject	argipressin receptor 2	en_US
dc.subject	cyclic AMP	en_US
dc.subject	cyclic AMP dependent protein kinase	en_US
dc.subject	desmopressin	en_US
dc.subject	sodium	en_US
dc.subject	unclassified drug	en_US
dc.subject	AQP2 protein, human	en_US
dc.subject	aquaporin 2	en_US
dc.subject	DNA	en_US
dc.subject	Article	en_US
dc.subject	child	en_US
dc.subject	clinical article	en_US
dc.subject	dehydration	en_US
dc.subject	DNA flanking region	en_US
dc.subject	failure to thrive	en_US
dc.subject	female	en_US
dc.subject	frameshift mutation	en_US
dc.subject	gene mutation	en_US
dc.subject	genetic analysis	en_US
dc.subject	genetic association	en_US
dc.subject	glomerulus filtration rate	en_US
dc.subject	heterozygote	en_US
dc.subject	homozygosity	en_US
dc.subject	human	en_US
dc.subject	hypernatremia	en_US
dc.subject	infant	en_US
dc.subject	male	en_US
dc.subject	missense mutation	en_US
dc.subject	nephrogenic diabetes insipidus	en_US
dc.subject	nonsense mutation	en_US
dc.subject	plasma osmolality	en_US
dc.subject	polydipsia	en_US
dc.subject	polyuria	en_US
dc.subject	preschool child	en_US
dc.subject	priority journal	en_US
dc.subject	school child	en_US
dc.subject	vomiting	en_US
dc.subject	clinical trial	en_US
dc.subject	Diabetes Insipidus, Nephrogenic	en_US
dc.subject	dna mutational analysis	en_US
dc.subject	genetic predisposition	en_US
dc.subject	genetic screening	en_US
dc.subject	genetics	en_US
dc.subject	metabolism	en_US
dc.subject	multicenter study	en_US
dc.subject	mutation	en_US
dc.subject	newborn	en_US
dc.subject	pedigree	en_US
dc.subject	Aquaporin 2	en_US
dc.subject	Child	en_US
dc.subject	Child, Preschool	en_US
dc.subject	Diabetes Insipidus, Nephrogenic	en_US
dc.subject	DNA	en_US
dc.subject	DNA Mutational Analysis	en_US
dc.subject	Female	en_US
dc.subject	Genetic Predisposition to Disease	en_US
dc.subject	Genetic Testing	en_US
dc.subject	Humans	en_US
dc.subject	Infant	en_US
dc.subject	Infant, Newborn	en_US
dc.subject	Male	en_US
dc.subject	Mutation	en_US
dc.subject	Pedigree	en_US
dc.title	Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study	en_US
dc.type	info:eu-repo/semantics/article
dc.identifier.doi	https://doi.org/10.1007/s00431-015-2534-4
dc.subject.ocde	https://purl.org/pe-repo/ocde/ford#3.02.03
dc.relation.issn	1432-1076

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

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