Abstract: FR-PO664
A Novel Pattern of Mutations in Northern Indian Children with Steroid-Resistant Nephrotic Syndrome
Session Information
- Genetic Kidney Diseases: Cohort Studies - Genetic Associations and Diagnoses
October 25, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Prasad, Narayan, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
- Yadav, Brijesh, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
- Meyyappan, Jeyakumar, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
Background
Steroid Resistant Nephrotic Syndrome(SRNS) in children poses treatment challenges, and many had genetic mutations. Data on genetics is scarce.
Methods
A prospective study(Oct2018–April2023) enrolled children with SRNS who consented to DNA isolation and next-generation sequencing to explore genetic variants and their clinical outcomes. Clinical, histological and genetic data were recorded.
Results
Out of 680 NS patients,121(17.8%) had SRNS and 96consented to genetic analysis. Of them 69(71.9%) were early SRNS and 27(28.1%) late nonreponder. 63(65.7%) had reportable genetic variants and genetic variant Pathogenic or likely Pathogeneic is shown in Image1, and genetic variant Variant of Unknown Significance or likely benign in Image 2. COL4A genes mutation was seen in 20(31.7%)patients. Renal biopsy showed FSGS in 31/42(74%) with variants. Complete(11%)and Partial remission(23.9%) with CNI was observed.
Conclusion
65.7% SRNS patients had genetic variants,and COL4A variants were responsible for 31.7 %. CNI reponse was also observed.
Genetic profile of patients with genetic variant classified as Pathogenic(P) or likely Pathogeneic (LP)
Genetic profile of patients with genetic variant classified as Variant of Unknown Significance (VUS) or likely benign (LB)
Funding
- Government Support – Non-U.S.