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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
): 303-5
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Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report
from a three-generation family
#MMPMID25852895
Jain V
; Feehally J
; Jones G
; Robertson L
; Nair D
; Vasudevan P
Clin Kidney J
2014[Jun]; 7
(3
): 303-5
PMID25852895
show ga
Genetic causes of steroid-resistant nephrotic syndrome are being increasingly
recognized. Mutations in NPHS2, which encodes the glomerular protein podocin,
account for up to 17% of sporadic and 40% of familial cases, where they display
an autosomal-recessive pattern of inheritance. This report describes a
non-consanguineous family with three generations of individuals who are either
compound heterozygotes for mutations in NPHS2 or who have inherited a mutation
and a non-neutral polymorphism (R229Q). As well as providing an aetiological
explanation, identifying pathogenic mutations and considering genotype-phenotype
correlations can provide prognostic information and lead to changes in genetic
counselling and management.