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dc.contributor.authorMadariaga Domínguez, Leire
dc.contributor.authorGarcía Castaño, Alejandro
dc.contributor.authorAriceta, Gema
dc.contributor.authorMartínez Salazar, Rosa
dc.contributor.authorAguayo Calcena, Aníbal
dc.contributor.authorCastaño González, Luis Antonio
dc.date.accessioned2019-06-19T11:46:58Z
dc.date.available2019-06-19T11:46:58Z
dc.date.issued2019
dc.identifier.citationClinical Kidney Journal 12(3) : 373-379 (2019)es_ES
dc.identifier.issn2048-8505
dc.identifier.urihttp://hdl.handle.net/10810/34337
dc.description.abstractBackground: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described. Variable penetrance and intrafamilial variability have been demonstrated including severe prenatal phenotypes. Thus, it is important to differentiate this entity from others with similar clinical features and perform confirmatory molecular diagnosis. Methods: This study reports the results of HNF1B screening in a cohort of 60 patients from 58 unrelated families presenting with renal structural anomalies and/or non-immune glucose metabolism alterations, and other minor features suggesting HNF1B mutations. Results: This study identified a pathogenic variant in 23 patients from 21 families. The most frequent finding was bilateral cystic dysplasia or hyperechogenic kidneys (87% of patients). Sixty percent of them also fulfilled the criteria for impaired glucose metabolism, and these were significantly older than those patients with an HNF1B mutation but without diabetes or prediabetes (14.4 versus 3.3years, P<0.05). Furthermore, patients with HNF1B mutations had higher frequency of pancreatic structural anomalies and hypomagnesaemia than patients without mutations (P<0.001 and P = 0.003, respectively). Hyperuricaemia and increased liver enzymes were detected in some patients as well. Conclusions: Renal anomalies found in patients with HNF1B mutations are frequently unspecific and may resemble those found in other renal pathologies (CAKUT, ciliopathies). Active searching for extrarenal minor features, especially pancreatic structural anomalies or hypomagnesaemia, could support the indication for molecular diagnosis to identify HNF1B mutations.es_ES
dc.language.isoenges_ES
dc.publisherOxford Academices_ES
dc.rightsinfo:eu-repo/semantics/openAccesses_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0/es/*
dc.subjectCAKUTes_ES
dc.subjectHNF1Bes_ES
dc.subjectMODYes_ES
dc.subjecthypomagnesaemiaes_ES
dc.subjectpancreatic structural anomaliees_ES
dc.titleVariable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tractes_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.holderThe Author(s) 2018. Published by Oxford University Press on behalf of ERA-EDTA.This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properlycited.For commercial re-use, please contact journals.permissions@oup.comes_ES
dc.rights.holderAtribución-NoComercial 3.0 España*
dc.relation.publisherversionhttps://academic.oup.com/ckj/article/12/3/373/5181379es_ES
dc.identifier.doi10.1093/ckj/sfy102
dc.departamentoesPediatríaes_ES
dc.departamentoeuPediatriaes_ES


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The Author(s) 2018. Published by Oxford University Press on behalf of ERA-EDTA.This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properlycited.For commercial re-use, please contact journals.permissions@oup.com
Except where otherwise noted, this item's license is described as The Author(s) 2018. Published by Oxford University Press on behalf of ERA-EDTA.This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properlycited.For commercial re-use, please contact journals.permissions@oup.com