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Journals / Çocuk Dergisi / 2026 / Cilt: 23 Sayı: 1

A Case Series of 4 Patients with Congenital Nephrotic Syndrome

Konjenital Nefrotik Sendrom: 4 Vaka Sunumu

Zehra Aydın(University of Health Sciences, Ankara City Hospital, Department of Pediatric Nephrology, Ankara, Turkiye)0000-0002-9605-725X
Mihriban İnözü(University of Health Sciences, Ankara City Hospital, Department of Pediatric Nephrology, Ankara, Turkiye)0000-0003-1574-1971
İbrahim Şahin(Dıskapı Yıldırım Beyazit Training and Research Hospital, Diagnostic Center for Genetic Disease, Department of Medical Genetics, Ankara, Turkiye)0000-0002-6050-816X
Umut Selda Bayrakçı(Ankara Yildirim Beyazit University Faculty of Medicine, Department of Pediatric Nephrology, Ankara, Turkiye)0000-0002-5301-2617
Pages
101–104
Publication Date
2023-03-27
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this study, we wanted to draw attention to the different clinical courses of patients with nephrin mutations.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Congenital nephrotic syndrome (CNS) is a rare hereditary kidney disease that begins at birth or within the first three months of life.
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Key Findings & Data:CNS is characterized by severe proteinuria, hypoalbuminemia, edema, and hyperlipidemia.
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Conclusion & Impact:In this study, we wanted to draw attention to the different clinical courses of patients with nephrin mutations.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Çocuk · Konjenital Nefrotik Sendrom · Nefrin

Abstract

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.

Özet

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.

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Cite This Article

Aydın, Z., İnözü, M., Şahin, İ., Bayrakçı, U. S. (2023). A Case Series of 4 Patients with Congenital Nephrotic Syndrome. Çocuk Dergisi, Cilt: 23 Sayı: 1, 101–104. https://doi.org/10.26650/jchild.2023.1000965

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