title: Two novel mutations of the CLDN16 gene cause familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
abstract: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is an autosomal-recessive disease caused by mutations in the CLDN16 or CLDN19 genes, which encode tight junction-associated proteins, claudin-16 and -19. The resultant tubulopathy leads to urinary loss of Mg(2+) and Ca(2+), with subsequent nephrocalcinosis and end-stage renal disease (ESRD). An 18-year-old boy presented with chronic kidney disease and proteinuria, as well as hypomagnesaemia, hypercalciuria and nephrocalcinosis. A kidney biopsy revealed tubular atrophy, interstitial fibrosis and segmental sclerosis of some glomeruli. Two novel mutations in the CLDN16 gene were identified: c.340C>T (nonsense) and c.427+5G>A (splice site). The patient reached ESRD at 23 and benefited from kidney transplantation.
authors: Division of Nephrology , University of Liege Hospital (ULg CHU) , Liege , Belgium.
authors: Oriane
authors: O
authors: Hanssen
authors: Division of Genetics , University of Liege Hospital (ULg CHU) , Liege , Belgium.
authors: Emilie
authors: E
authors: Castermans
authors: Division of Nephrology , University of Liege Hospital (ULg CHU) , Liege , Belgium.
authors: Christophe
authors: C
authors: Bovy
authors: Division of Nephrology , University of Liege Hospital (ULg CHU) , Liege , Belgium.
authors: Laurent
authors: L
authors: Weekers
authors: Division of Nephrology , University of Liege Hospital (ULg CHU) , Liege , Belgium.
authors: Pauline
authors: P
authors: Erpicum
authors: Division of Nephrology , University of Liege Hospital (ULg CHU) , Liege , Belgium.
authors: Bernard
authors: B
authors: Dubois
authors: Division of Genetics , University of Liege Hospital (ULg CHU) , Liege , Belgium.
authors: Vincent
authors: V
authors: Bours
authors: Division of Nephrology , University of Liege Hospital (ULg CHU) , Liege , Belgium.
authors: Jean-Marie
authors: JM
authors: Krzesinski
authors: Division of Nephrology , University of Liege Hospital (ULg CHU) , Liege , Belgium.
authors: François
authors: F
authors: Jouret
keywords: claudin-16; nephrocalcinosis; proteinuria