Publication: ARID1A-Associated Coffin-Siris Syndrome: A Rare Case Report with Steroid-Resistant Nephrotic Syndrome and Single Kidney
Files
Date
2024
Authors
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 41 - 43
Publisher
Perinatal Society of Nepal (PESON)
Abstract
Abstract:
Coffin-Siris syndrome (CSS), a rare BAFopathy, is characterized by developmental delay, dysmorphic features, and variable anomalies. We report a 12-year-old boy with a novel ARID1A truncating mutation presenting with global developmental delay, facial dysmorphism, single kidney, and steroid-resistant nephrotic syndrome (SRNS). Genetic analysis confirmed a heterozygous p.Glu1017Ter mutation in ARID1A. This report expands the phenotypic spectrum of CSS by highlighting its association with glomerular disease, a previously unreported feature.
Description
Md Habibullah Sk
Neonatologist, DM Neonatology, Senior Resident, Department of Neonatology, Institute of Post Graduate Medical Education & Research and SSKM Hospital, 244, A J C Bose Road, Kolkata-700020, India
Mohsina Naj
Paediatrician, Post Doctoral Trainee, Department of Nephrology, Institute of Post Graduate Medical Education & Research and SSKM Hospital, 244, A J C Bose Road, Kolkata-700020, India
Keywords
Coffin-Siris syndrome, ARID1A, Steroid-resistant nephrotic syndrome, Single kidney, Developmental delay
Identifier
https://doi.org/10.60086/jnps1270