Congenital nephrotic syndrome
Asmaa S AbuMaziad1, Rami Abusaleh2, Shanti Bhati2
1Department of Pediatrics, Division of Nephrology, University of Arizona, Tucson, AZ, USA. asmaa@peds.arizona.edu.
Summary
Congenital nephrotic syndrome (CNS) causes severe kidney issues in newborns, leading to protein loss and swelling. Early diagnosis and supportive care are crucial, with kidney transplantation offering the best long-term outcome.
Area of Science:
- Nephrology
- Pediatric Nephrology
- Genetics
Background:
- Congenital nephrotic syndrome (CNS) is a severe kidney disorder characterized by massive proteinuria, hypoalbuminemia, and edema.
- It presents in utero or within the first three months of life, posing significant clinical challenges.
Purpose of the Study:
- To increase awareness regarding the pathogenesis, diagnosis, and management of congenital nephrotic syndrome.
- To provide a comprehensive overview for clinicians dealing with CNS patients.
Main Methods:
- This review synthesizes current knowledge on CNS, covering genetic and non-genetic etiologies.
- It discusses the clinical presentation, diagnostic approaches, and therapeutic strategies.
Main Results:
- Genetic factors, including variants in NPHS1, NPHS2, LAMB2, WT1, and PLCE1, are implicated in CNS pathogenesis.
- Clinical course is complicated by edema, infections, thrombosis, hypothyroidism, and failure to thrive.
- Management focuses on supportive care, including albumin infusions, diuretics, infection prevention, and nutritional support.
Conclusions:
- Diagnosis and management of CNS remain challenging for healthcare providers.
- Kidney transplantation is the definitive treatment for affected individuals.
- Enhanced understanding of CNS pathogenesis and management is vital for improving patient outcomes.
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