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

• Published in: Nephrology, dialysis, transplantation Vol. 30; no. 4; pp. 636 - 644
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: England 01.04.2015
• Subjects: Adolescent; Adult; Child; Child, Preschool; Claudins - genetics; Female; Heterozygote; Homozygote; Humans; Hypercalciuria - epidemiology; Hypercalciuria - genetics; Infant; Male; Mutation - genetics; Nephrocalcinosis - epidemiology; Nephrocalcinosis - genetics; Poland - epidemiology; Prevalence; Renal Tubular Transport, Inborn Errors - epidemiology; Renal Tubular Transport, Inborn Errors - genetics; Retrospective Studies; Young Adult; Poland; hypomagnesaemia; hypercalciuria; CLDN16; nephrocalcinosis; FHHNC

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder exhibiting a high risk for progressive chronic kidney disease (CKD). This is a retrospective multicentre study of 25 paediatric cases with FHHNC in Poland. Median age at diagnosis...