Konjenital Nefrotik Sendrom: 4 Vaka Sunumu

Öz

Konjenital nefrotik sendrom (CNS), doğumda veya yaşamın ilk üç ayında başlayan, nadir görülen kalıtsal bir böbrek hastalığıdır. CNS, şiddetli proteinüri, hipoalbüminemi, ödem ve hiperlipidemi ile karakterizedir. CNS’ye esas olarak glomerüler filtrasyon bariyerinde hasarla sonuçlanan gen mutasyonları neden olur. Biri spontan remisyonda olan dört hastamızın klinik seyrini sunmak istedik. Bu çalışmada nefrin mutasyonları olan hastaların farklı klinik seyirlerine dikkat çekmek istedik.

Anahtar Kelimeler

• Çocuk
• Konjenital Nefrotik Sendrom
• Nefrin

A Case Series of 4 Patients with Congenital Nephrotic Syndrome

Öz

Congenital nephrotic syndrome (CNS) is a rare hereditary kidney disease that begins at birth or within the first three months of life. CNS is characterized by severe proteinuria, hypoalbuminemia, edema, and hyperlipidemia. It is primarily caused by gene mutations that result in damage to the glomerular filtration barrier. We wanted to present the clinical course of our four patients, one of whom was in spontaneous remission. In this study, we wanted to draw attention to the different clinical courses of patients with nephrin mutations.

Anahtar Kelimeler

• Children
• Congenital Nephrotic Syndrome
• Nephrin

Kaynakça

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