Murat KONAK, Ali ANNAGÜR, Hüseyin ALTUNHAN, Bülen ATAŞ, Rahmi ÖRS

Konjenital Nefrotik Sendrom: Olgu Sunumu ve Literatürün Gözden Geçirilmesi

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.

Anahtar Kelimeler:

Konjenital nefrotik sendrom, hipoalbuminemi, proteinüri, yenidoğan

Congenital Nephrotic Syndrome: Case Report and Review of Literature

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,

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