Congenital Nephrotic Syndrome in Oman: A 20-year single-centre experience.

Abstract

Objectives: Congenital nephrotic syndrome (CNS) is a rare, severe disease presenting within the first three months of life, with limited prevalence data from Oman and the Gulf region. This study aimed to report 20 years' experience of congenital nephrotic syndrome (CNS) in a single centre in Oman.

Methods: This retrospective study including children diagnosed with nephrotic syndrome in first 3 months of life, from January 2000 to December 2020 at Royal Hospital, Muscat, Oman.

Results: A total of 26 patients were included in the study, with no gender predominance. Consanguinity was noted in 61.5% of patients and a family history of renal disease was found in 46.2% of patients. The median age at presentation was 19.9 days (range: birth-2 months). Genetic workup was performed in 19 patients of which 73.6% were positive for NPHS1 gene. The median follow-up was 6.3 years (range: 1 month-13 years). Dialysis was initiated in 23.1% of patients, and 15.4% underwent transplantation. The median age at death was 1.5 years (range: 1 month-7 years).

Conclusion: Genetic factors remain the predominant cause of CNS in this study's cohort. Despite significant disease course, advances in supportive and specialised care continue to improve outcomes.