Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=29594119
&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests
in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215
Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\29594119
.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Front+Med+(Lausanne)
2018 ; 5
(ä): 55
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
Monogenic Causes of Proteinuria in Children
#MMPMID29594119
Cil O
; Perwad F
Front Med (Lausanne)
2018[]; 5
(ä): 55
PMID29594119
show ga
Glomerular disease is a common cause for proteinuria and chronic kidney disease
leading to end-stage renal disease requiring dialysis or kidney transplantation
in children. Nephrotic syndrome in children is diagnosed by the presence of a
triad of proteinuria, hypoalbuminemia, and edema. Minimal change disease is the
most common histopathological finding in children and adolescents with nephrotic
syndrome. Focal segmental sclerosis is also found in children and is the most
common pathological finding in patients with monogenic causes of nephrotic
syndrome. Current classification system for nephrotic syndrome is based on
response to steroid therapy as a majority of patients develop steroid sensitive
nephrotic syndrome regardless of histopathological diagnosis or the presence of
genetic mutations. Recent studies investigating the genetics of nephrotic
syndrome have shed light on the pathophysiology and mechanisms of proteinuria in
nephrotic syndrome. Gene mutations have been identified in several subcellular
compartments of the glomerular podocyte and play a critical role in mitochondrial
function, actin cytoskeleton dynamics, cell-matrix interactions, slit diaphragm,
and podocyte integrity. A subset of genetic mutations are known to cause
nephrotic syndrome that is responsive to immunosuppressive therapy but clinical
data are limited with respect to renal prognosis and disease progression in a
majority of patients. To date, more than 50 genes have been identified as
causative factors in nephrotic syndrome in children and adults. As genetic
testing becomes more prevalent and affordable, we expect rapid advances in our
understanding of mechanisms of proteinuria and genetic diagnosis will help direct
future therapy for individual patients.
free
free
free
