Article (Scientific journals)
Two novel mutations of the CLDN16 gene cause familial hypomagnesaemia with hypercalciuria and nephrocalcinosis
Hanssen, Oriane; CASTERMANS, Emilie; BOVY, Christophe et al.
2014In NDT Plus, 7, p. 282-285
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Keywords :
claudin-16; nephrocalcinosis; proteinuria
Abstract :
[en] 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 Mg2+ and Ca2+, 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.
Disciplines :
Genetics & genetic processes
Urology & nephrology
Author, co-author :
Hanssen, Oriane ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
CASTERMANS, Emilie ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
BOVY, Christophe ;  Centre Hospitalier Universitaire de Liège - CHU > Néphrologie
WEEKERS, Laurent  ;  Centre Hospitalier Universitaire de Liège - CHU > Néphrologie
ERPICUM, Pauline ;  Centre Hospitalier Universitaire de Liège - CHU > Frais communs médecine
DUBOIS, Bernard ;  Centre Hospitalier Universitaire de Liège - CHU > Néphrologie
Bours, Vincent ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > GIGA-R : Génétique humaine
Krzesinski, Jean-Marie ;  Université de Liège - ULiège > Département des sciences cliniques > Néphrologie
Jouret, François  ;  Université de Liège - ULiège > Département des sciences cliniques > Néphrologie
Language :
English
Title :
Two novel mutations of the CLDN16 gene cause familial hypomagnesaemia with hypercalciuria and nephrocalcinosis
Publication date :
2014
Journal title :
NDT Plus
ISSN :
1753-0784
eISSN :
1753-0792
Publisher :
Oxford University Press, United Kingdom
Volume :
7
Pages :
282-285
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 18 June 2014

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