A novel mutation c.2010delG of CLCN5 gene associated with Dent disease-1 in an 11-year-old male with nephrolithiasis and nephrocalcinosis

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dc.contributor.authorKulu, B.
dc.contributor.authorSancakli, O.
dc.contributor.authorSakallioglu, O.
dc.date.accessioned2019-06-30T17:15:46Z
dc.date.available2019-06-30T17:15:46Z
dc.date.issued2018
dc.description.abstractDent's disease-1 (CLCN5 gene) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. We present an 11-year-old child with nephrocalcinosis and nephrolithiasis with c.2010delG (or p.Asp671fs) mutation in CLCN5 gene which had not previously been reported in the Dent's disease-1. © 2018 National Academy of Pediatric Science and Innovation. All rights reserved.en_US
dc.identifier.endpage72en_US
dc.identifier.issn10274065
dc.identifier.issue2en_US
dc.identifier.scopus2-s2.0-85046723926en_US
dc.identifier.startpage70en_US
dc.identifier.urihttps://www.ped-perinatology.ru/jour/article/view/648/622
dc.identifier.urihttp://hdl.handle.net/11727/3751
dc.identifier.volume63en_US
dc.language.isoengen_US
dc.relation.isversionof10.21508/1027-4065-2018-63-2-70-72en_US
dc.relation.journalRossiyskiy Vestnik Perinatologii i Pediatriien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergien_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectChilden_US
dc.subjectCLCN5en_US
dc.subjectDent's diseaseen_US
dc.subjectNephrocalcinosisen_US
dc.subjectNephrolithiasisen_US
dc.subjectTubulopathyen_US
dc.titleA novel mutation c.2010delG of CLCN5 gene associated with Dent disease-1 in an 11-year-old male with nephrolithiasis and nephrocalcinosisen_US
dc.typeArticleen_US

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