The etiology of congenital nephrotic syndrome: current status and challenges
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The etiology of congenital nephrotic syndrome: current status and challenges Jing-Jing Wang, Jian-Hua Mao Hangzhou, China
Data sources: We searched databases such as PubMed, Elsevier and Wanfang with the following key words: congenital nephrotic syndrome, proteinuria, infants, neonate, congenital infection, mechanism and treatment; and we selected those publications written in English that we judged to be relevant to the topic of this review. Results: Based on the data present in the literature, we reviewed the following topics: 1) Infection associated CNS including congenital syphilis, congenital toxoplasmosis, and congenital cytomegalovirus infection; 2) genetic CNS including mutation of NPHS1 (Nephrin), NPHS2 (Podocin), WT1, LAMB2 (Laminin-β2), PLCE1 (NPHS3); 3) Other forms of CNS including maternal systemic lupus erythematosus, mercury poisoning, renal vein thrombosis, neonatal alloimmunization against neutral endopeptidase. Conclusions: At present, the main challenge in CNS is to identify the cause of disease for individual patients. To make a definitive diagnosis, with the exclusion of infection-related CNS and maternal-associated disorders, pathology, family history, inheritance mode, and other
Author Affiliations: Department of Nephrology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China (Wang JJ, Mao JH) Corresponding Author: Jian-Hua Mao, Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China (Tel: 0086-571-87061007; Fax: 0086-571-87033296; Email: [email protected]) doi: 10.1007/s12519-016-0009-y ©Children's Hospital, Zhejiang University School of Medicine, China and Springer-Verlag Berlin Heidelberg 2016. All rights reserved.
World J Pediatr, Vol 12 No 2 . May 15, 2016 . www.wjpch.com
accompanying congenital malformations are sometimes, but not always, useful indicators for diagnosing genetic CNS. Next-generation sequencing would be a more effective method for diagnosing genetic CNS in some patients, however, there are still some challenges with next-generation sequencing that need to be resolved in the future. World J Pediatr 2016;12(2):149-158 Key words: congenital infection; congenital nephrotic syndrome; mono-genetic mutation; next-generation sequencing
Introduction
P
rimary nephrotic syndrome, described as the tetralogy of massive proteinuria, hypoalbuminemia, hyperlipidemia and edema, is the most common glomerular disorder in children, with an incidence of approximately 1-3 per 100 000 children T, R1109X) in the NPHS1 gene were the first mutations to be discovered and the most prevalent mutations of CNF in the Finnish population (98% of cases).[31] However, these mutations are also found in other ethnic groups.[28] Screening for NPHS1 mutations in patients of non-Finnish origin has shown that the frequency of NPHS1 mutations is lower than that in Finnish patients, accounting for 39%-50% of non-Finnish cases with CNS.[37] On the other hand, rare cases with a manifestation beyond the age of 90 days have also bee
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