Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.

doi:10.1093/ndt/gfu374

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Article

Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Apr 2015

Sikora Przemysław, Zaniew Marcin, Haisch Lea, Pulcer Barbara, Szczepańska Maria, Moczulska Anna, Rogowska-Kalisz Anna, Bieniaś Beata, Tkaczyk Marcin, Ostalska-Nowicka Danuta, Zachwieja Katarzyna, Hyla-Klekot Lidia, Schlingmann Karl Peter, Konrad Martin

Abstract excerpt

BACKGROUND: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder exhibiting a high risk for progressive chronic kidney disease (CKD). METHODS: This is a retrospective multicentre study of 25 paediatric cases with FHHNC in Poland. Median age at diagnosis was 4 years and median follow-up time was 4.8 years. RESULTS: All cases of FHHNC carried...

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PMID: 25477417
DOI: 10.1093/ndt/gfu374

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CLDN16

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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