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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Clin+Kidney+J
2014 ; 7
(3
): 282-5
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gab.com Text
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English Wikipedia
Two novel mutations of the CLDN16 gene cause familial hypomagnesaemia with
hypercalciuria and nephrocalcinosis
#MMPMID25852890
Hanssen O
; Castermans E
; Bovy C
; Weekers L
; Erpicum P
; Dubois B
; Bours V
; Krzesinski JM
; Jouret F
Clin Kidney J
2014[Jun]; 7
(3
): 282-5
PMID25852890
show ga
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.