DefinePK

Abstract

Background: Congenital Nephrotic Syndrome (CNS) is a paediatric kidney disease that is defined by massive protein loss in the urine, hypoalbuminemia, and hyperlipidemia. Mutations in PLCE1 are associated with autosomal recessive form of nephrotic syndrome associated with elevated T-cells.  Methods: A two-month-old female patient from a Pakistani family suffering from recurrent renal infections with fever and cough was investigated in this study. Laboratory tests including renal function test, lipid profile, lymphocyte subset analysis using flow cytometry, serum immunoglobulin level and blood complete picture were performed. After detailed clinical evaluation, whole blood samples were collected in EDTA tubes for genetic analysis. Results: Complete blood count (CBC) showed low haemoglobin levels and lymphocytosis. Flow cytometery revealed elevated CD4/CD8 T-cells. Low serum immunoglobulin levels were observed. Genetic analysis revealed a missense mutation [c.6790A>G; (p.Lys2264Glu)] in the gene PLCE1. Conclusion: The current study describes a novel homozygous genetic mutation in PLCE1 gene. Clinical investigations revealed disease features partially fulfilling the criteria of inherited nephrotic syndrome.
Pak J Physiol 2025;21(3):7-10, DOI: https://doi.org/10.69656/pjp.v21i3.1851