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http://scihub22266oqcxt.onion/ C5839637!5839637!25818963     free     free     free Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Turk+J+Pediatr 2014 ; 56 (4): 423-6 Nephropedia Template TP {{tp|p=25818963|t=2014. Diverse Phenotypic Expression of NPHP4 Mutations in Four Siblings |pdf=|usr=}}{{25818963}} gab.com Text Diverse Phenotypic Expression of NPHP4 Mutations in Four Siblings JO: Turk J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=25818963 #FOAvip Nephronophthisis (NPHP) is an autosomal recessive disease characterized by renal tubular basement membrane disruption, interstitial fibrosis, and tubular cysts that progresses to end-stage kidney disease (ESKD). There are characteristic extrarenal manifestations. Mutations of more than thirteen genes have been identified that can cause NPHP. We herein report four siblings from a consanguineous family, who carried the same NPHP4 mutations but presented with different disease phenotypes ranging from enuresis nocturna to ESKD. Diluted urine and echogenic kidneys in ultrasound examination were consistent, which is typical for 100 % of the NPHP cases that have been described. Chronic kidney disease developed in the older two brothers. The observed phenotypic differences are likely to be related to environmental and epigenetic factors, oligogenic inheritance and modifier genes affecting their ages at presentation. NPHP should be considered as an important cause of ESKD in children, which insidiously progresses to ESKD and no specific therapy is available. Twit Text FOAVip Diverse Phenotypic Expression of NPHP4 Mutations in Four Siblings ????Turk J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=25818963 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25818963 #FOAvip English Wikipedia <ref>{{Cite pmid|25818963}}</ref> Diverse Phenotypic Expression of NPHP4 Mutations in Four Siblings #MMPMID25818963 Bakkalo?lu SA; Kandur Y; Demirda? TB; Gönül ?I; Hildebrandt F Turk J Pediatr 2014[Jul]; 56 (4): 423-6 PMID25818963show ga Nephronophthisis (NPHP) is an autosomal recessive disease characterized by renal tubular basement membrane disruption, interstitial fibrosis, and tubular cysts that progresses to end-stage kidney disease (ESKD). There are characteristic extrarenal manifestations. Mutations of more than thirteen genes have been identified that can cause NPHP. We herein report four siblings from a consanguineous family, who carried the same NPHP4 mutations but presented with different disease phenotypes ranging from enuresis nocturna to ESKD. Diluted urine and echogenic kidneys in ultrasound examination were consistent, which is typical for 100 % of the NPHP cases that have been described. Chronic kidney disease developed in the older two brothers. The observed phenotypic differences are likely to be related to environmental and epigenetic factors, oligogenic inheritance and modifier genes affecting their ages at presentation. NPHP should be considered as an important cause of ESKD in children, which insidiously progresses to ESKD and no specific therapy is available. äDiverse Phenotypic Expression of NPHP4 Mutations in Four Siblings (epmc).pdf DeepDyve Pubget Overpricing