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10.5455/medarh.2016.70.232-234 http://scihub22266oqcxt.onion/10.5455/medarh.2016.70.232-234 C5010061!5010061!27594755     free     free     free       Med+Arch 2016 ; 70 (3): 232-4 Nephropedia Template TP {{tp|p=27594755|t=2016. Congenital Nephrotic Syndrome ? Finish Type |pdf=|usr=}}{{27594755}} gab.com Text Congenital Nephrotic Syndrome Finish Type JO: Med Arch http://www.kidney.de/pget.php?&tw=1&pmid=27594755 #FOAvip Introduction:: Identification of the NPHS1 gene, which encodes nephrin, was followed by many studies demonstrating its mutation as a frequent cause of congenital nephrotic syndrome (CNS). While this gene is found in 98% of Finnish children with this syndrome, non-Finnish cases have lower level of incidence ranging from 39 to 80%. Case report:: This report describes the clinical presentation of a two-week-old neonate who presented with periorbital and lower extremities edema, abdominal distention, heavy proteinuria, serum hypoproteinemia and failure to thrive. Genetic analysis revealed NHPS1 gene mutation leading to CNS-Finnish type diagnosis. Conclusion:: Through this case we want to create awareness about diagnosis and treatment challenges in developing countries for rare congenital diseases. Twit Text FOAVip Congenital Nephrotic Syndrome Finish Type ????Med Arch http://www.kidney.de/pget.php?&tw=1&pmid=27594755 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27594755 #FOAvip English Wikipedia <ref>{{Cite pmid|27594755}}</ref> Congenital Nephrotic Syndrome ? Finish Type #MMPMID27594755 Spahiu L; Merovci B; Jashari H; Kėpuska AB; Rugova BE Med Arch 2016[Jun]; 70 (3): 232-4 PMID27594755show ga Introduction:: Identification of the NPHS1 gene, which encodes nephrin, was followed by many studies demonstrating its mutation as a frequent cause of congenital nephrotic syndrome (CNS). While this gene is found in 98% of Finnish children with this syndrome, non-Finnish cases have lower level of incidence ranging from 39 to 80%. Case report:: This report describes the clinical presentation of a two-week-old neonate who presented with periorbital and lower extremities edema, abdominal distention, heavy proteinuria, serum hypoproteinemia and failure to thrive. Genetic analysis revealed NHPS1 gene mutation leading to CNS-Finnish type diagnosis. Conclusion:: Through this case we want to create awareness about diagnosis and treatment challenges in developing countries for rare congenital diseases. äCongenital Nephrotic Syndrome ? Finish Type (epmc).pdf DeepDyve Pubget Overpricing