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Congenital nephrotic syndrome

Journal of Perinatology volume 41, pages 2704–2712 (2021)Cite this article

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Abstract

Congenital nephrotic syndrome (CNS), a challenging form of nephrotic syndrome, is characterized by massive proteinuria, hypoalbuminemia, and edema. Extensive leakage of plasma proteins is the main feature of CNS. Patients can be diagnosed in utero or during the first few weeks of life, usually before three months. The etiology of CNS can be related to either genetic or nongenetic etiologies. Pathogenic variants in NPHS1, NPHS2, LAMB2, WT1, and PLCE1 genes have been implicated in this disease. The clinical course is complicated by significant edema, infections, thrombosis, hypothyroidism, failure to thrive, and others. Obtaining vascular access, frequent intravenous albumin infusions, diuretic use, infection prevention, and nutritional support are the mainstay management during their first month of life. The best therapy for these patients is kidney transplantation. CNS diagnosis and treatment continue to be a challenge for clinicians. This review increases the awareness about the pathogenesis, diagnosis, and management of CNS patients.

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Fig. 1: Electron microscopy shows podocytes in normal and CNS (human).
Fig. 2: Overview of glomerular filtration barrier and some important proteins involved in congenital nephrotic syndrome.
Fig. 3: Podocytes in normal and abnormal conditions in Puromycin aminonucleoside (PAN) nephrosis murine model (not human podocytes) showing the concept of dysfunctional effaced podocyte foot processes.

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Acknowledgements

We thank Dr. William Day of the University of Arizona Microscopy Core for assistance with electron microscopy, Dr. Johnathan Zuckerman at the University of California Los Angles for providing NPHS1 pathogenic variant micrograph, and Dr. Koichiro Ichimura at Juntendo University, Japan for providing colored podocytes micrograph (Fig. 3).

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  1. Department of Pediatrics, Division of Nephrology, University of Arizona, Tucson, AZ, USA

    Asmaa S. AbuMaziad, Rami Abusaleh & Shanti Bhati

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ASA, RA, SB wrote the manuscript. ASA provided the figures, wrote, and revised the manuscript.

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AbuMaziad, A.S., Abusaleh, R. & Bhati, S. Congenital nephrotic syndrome. J Perinatol 41, 2704–2712 (2021). https://doi.org/10.1038/s41372-021-01279-0

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