Congenital Nephrotic Syndrome: Case Report and Review of Literature

Year 2012, Volume: 37 Issue: 2, 112 - 115, 01.06.2012

Murat Konak Ali Annagür Hüseyin Altunhan Bülen Ataş Rahmi Örs

Abstract

Congenital nephrotic syndrome (CNS) is a rare kidney disease which reveals itself after birth and characterized with severe proteinuria, hypoalbuminemia and edema. It is a genetic disorder that occurs with deterioration of glomerular filtration barrier especially as a result of mutation that develops in genes called nephrin and podocin. CNS could be as a result of perinatal infection as well as a part of a genetic syndrome. Immune suppressive treatment is ineffective in genetically originated CNS, however renal transplantation yields curative treatment. In many cases to prevent from life threatening edema, daily albumin infusion is needed. Additionally, high caloric diet, thyroxin and mineral supply are applied. Also prophylaxis of thrombolytic complications and opportunistic infection that could develop due to immune deficiency is needed. In this report we discussed a case with the review of literature by reporting a newborn which had CNS diagnosis as a result of persistent hypoalbuminemia and proteinuria without edema.

Keywords

Congenital nephrotic syndrome, hypoalbuminemia, proteinuria, neonatal

Konjenital Nefrotik Sendrom: Olgu Sunumu ve Literatürün Gözden Geçirilmesi

Abstract

Konjenital nefrotik sendrom (KNS), doğumdan sonra kendini belli eden ciddi proteinüri, hipoalbüminemi ve ödemle karakterize nadir bir böbrek hastalığıdır. Özellikle nefrin ve podocin adlı genlerde oluşan mutasyon sonucu glomerular filtrasyon bariyerinin bozulmasıyla ortaya çıkan genetik bir bozukluktur. KNS perinatal enfeksiyonların sonucunda olabileceği gibi, genetik bir sendromunda parçası da olabilir. İmmün süpresif tedavi genetik kaynaklı KNS"de etkisizdir ancak böbrek transplantasyonu küratif tedavi sağlamaktadır. Birçok vakada hayatı tehdit eden ödemden korumak için günlük albümin infüzyonu gerekmektedir. Ek olarak yüksek kalorili diyet, tiroksin ve mineral desteği uygulanır. Tromboembolik komplikasyonların ve immünite yetersizliğinden dolayı gelişebilecek firsatçı infeksiyonların proflaksisi gerekmektedir. Yazımızda ödemi olmayan ancak sebat eden hipoalbüminemi ve proteinüri nedeniyle KNS tanısı alan bir yenidoğan olgusunu sunarak hastalığı literatür eşliğinde tartıştık.

Keywords

Konjenital nefrotik sendrom, hipoalbuminemi, proteinüri, yenidoğan

References

• Habib R. Nephrotic syndrome in the 1st year of life. Pediatr Nephrol. 1993; 7:347-53
• Bakkaloğlu A. Nefrotik Sendrom. Güncel Pediatri. 2006; 4:36-40.
• Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvson K, Scambler P. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional interrelationship in glomerular filtration. Hum Mol Genet. 2002; 11:379-88.
• Patrakka J, Kestilä M, Wartiovaara J, Ruotsalainen V, Tissari P, Lenkkeri U, Männikkö M, Vispää I, Holmberg C, Rapola J, Tryggvason K, Jalanko H. Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients. Kidney Int. 2000; 58:972-80.
• Heptinstall RH. Pathology of The Kidney. 11th ed. Boston/Toronto, Little Brown and Company. 1983;696-99.
• Jalanko H. Congenital nephrotic syndrome. Pediatr Nephrol. 2009; 24: 2121-8.
• Patrakka J, Martin P, Salonen R, Kestilä M, Ruotsalaiunen V, Männikkö M, Ryynänen M, Rapola J, Holmberg C, Tryggvason K, Jalanko H. Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations. Lancet. 2002; 359:1575-7.
• Licht C, Eifinger F, Gharib M, Offner G, Michalk D, Querfeld U. A stepwise approach to treatment of early onset nephrotic syndrome. Pediatr Nephrol. 2000; 14:1077-82.
• Holmberg C, Tryggvason K, Kestila M, Jalanko H. Congenital nephrotic syndrome In: Avner E, Harmon WE, Niaudet P (eds) Pediatric Nephrology, 5th ed. Lippincott Williams & Wilkins, Baltimore. 2004; 503-16.
• Kovacevic L, Reid C, Ridgen S. Management of congenital nephrotic syndrome. Pediatr Nephrol. 2003;18: 426-30.