[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
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