{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T17:23:51Z","timestamp":1787765031010,"version":"build-2784847793"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023]]},"abstract":"\n Information on the genetic profile of congenital nephrotic syndrome (CNS) from India is scarce. The management of CNS is largely supportive of the setting of developing countries, mainly via the administration of intravenous albumin infusions, angiotensin-converting enzyme inhibitors, and levothyroxine. Inadequate infrastructure and management facilities, including genetic analyses, further hamper the outcome. These infants may progress to end-stage renal disease, and mortality is high in infancy. Here, we report a case series of four infants (aged 14\u201360 days) with CNS from our center with genetic mutations (including mutations in the\n NPHS1<\/jats:italic>\n and\n LAMB2<\/jats:italic>\n genes) that were not described in previous reports from India. Although responsiveness to enalapril has been documented in anecdotal reports of\n NPHS1<\/jats:italic>\n mutations, our case series of four infants did not exhibit any response to enalapril. Our case series adds to the existing literature regarding the genetic profile of CNS in India.\n <\/jats:p>","DOI":"10.4103\/1319-2442.391899","type":"journal-article","created":{"date-parts":[[2023,12,23]],"date-time":"2023-12-23T06:08:07Z","timestamp":1703311687000},"page":"191-195","source":"Crossref","is-referenced-by-count":1,"title":["Genetic Studies in Infants with Congenital Nephrotic Syndrome: A Case Series"],"prefix":"10.4103","volume":"34","author":[{"given":"Pediredla","family":"Karunakar","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aakash Chandran","family":"Chidambaram","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sriram","family":"Krishnamurthy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Palanisamy","family":"Sivamurukan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bobbity","family":"Deepthi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamatha","family":"Gowda","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,12,25]]},"reference":[{"key":"R1-20231226","doi-asserted-by":"crossref","first-page":"2121","DOI":"10.1007\/s00467-007-0633-9","article-title":"Congenital nephrotic syndrome","volume":"24","author":"Jalanko","year":"2009","journal-title":"Pediatr Nephrol"},{"key":"R2-20231226","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s00467-008-1051-3","article-title":"Familial forms of nephrotic syndrome","volume":"25","author":"Caridi","year":"2010","journal-title":"Pediatr Nephrol"},{"key":"R3-20231226","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1159\/000503303","article-title":"Congenital nephrotic syndrome in India in the current era: A multicenter case series","volume":"144","author":"Sinha","year":"2020","journal-title":"Nephron"},{"key":"R4-20231226","first-page":"415","article-title":"Congenital nephrotic syndrome of Finnish type with glomerular crescents","volume":"42","author":"Ghosh","year":"1994","journal-title":"J Assoc Physicians India"},{"key":"R5-20231226","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1007\/s12098-014-1507-3","article-title":"Pierson syndrome \u2013 A rare cause of congenital nephrotic syndrome","volume":"81","author":"Lionel","year":"2014","journal-title":"Indian J Pediatr"},{"key":"R6-20231226","doi-asserted-by":"crossref","first-page":"245","DOI":"10.2215\/CJN.07370715","article-title":"Rapid response to cyclosporin A and favorable renal outcome in nongenetic versus genetic steroid- resistant nephrotic syndrome","volume":"11","author":"B\u00fcscher","year":"2016","journal-title":"Clin J Am Soc Nephrol"},{"key":"R7-20231226","doi-asserted-by":"crossref","first-page":"3055","DOI":"10.1681\/ASN.2016101121","article-title":"Long-term outcome of steroid- resistant nephrotic syndrome in children","volume":"28","author":"Trautmann","year":"2017","journal-title":"J Am Soc Nephrol"},{"key":"R8-20231226","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/ki.1987.174","article-title":"Reduction of proteinuria by angiotensin converting enzyme inhibition","volume":"32","author":"Heeg","year":"1987","journal-title":"Kidney Int"},{"key":"R9-20231226","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1177\/1470320314543910","article-title":"ACE- inhibition increases podocyte number in experimental glomerular disease independent of proliferation","volume":"16","author":"Zhang","year":"2015","journal-title":"J Renin Angiotensin Aldosterone Syst"},{"key":"R10-20231226","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1046\/j.1523-1755.2000.00254.x","article-title":"Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients","volume":"58","author":"Patrakka","year":"2000","journal-title":"Kidney Int"}],"container-title":["Saudi Journal of Kidney Diseases and Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/1319-2442.391899","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T16:57:29Z","timestamp":1787763449000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/1319-2442.391899"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.4103\/1319-2442.391899","relation":{},"ISSN":["1319-2442","2320-3838"],"issn-type":[{"value":"1319-2442","type":"print"},{"value":"2320-3838","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023]]}}}