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Genetic Studies in Infants with Congenital Nephrotic Syndrome: A Case Series
Pediredla Karunakar1, Aakash Chandran Chidambaram1, Sriram Krishnamurthy1
1Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India.
Insights
This study identifies novel genetic mutations in congenital nephrotic syndrome (CNS) in Indian infants. The findings highlight the need for improved genetic diagnostics and underscore the limited response to enalapril in these cases.
Area of Science:
- Pediatric Nephrology
- Clinical Genetics
- Molecular Biology
Background:
- Congenital nephrotic syndrome (CNS) presents a significant challenge in developing countries due to limited diagnostic infrastructure.
- Current management is primarily supportive, with high infant mortality and progression to end-stage renal disease.
- Genetic data on CNS in India remains scarce, hindering targeted diagnosis and treatment.
Purpose of the Study:
- To investigate the genetic profile of congenital nephrotic syndrome (CNS) in infants from India.
- To identify novel genetic mutations associated with CNS in this population.
- To evaluate the clinical response to enalapril in infants with identified genetic mutations.
Main Methods:
- Case series of four infants diagnosed with CNS (aged 14-60 days).
- Genetic analysis to identify mutations in genes associated with nephrotic syndrome, including NPHS1 and LAMB2.
- Clinical observation of treatment response, specifically to enalapril.
Main Results:
- Identified genetic mutations in NPHS1 and LAMB2 genes in four infants with CNS.
- These specific mutations have not been previously reported in Indian cohorts.
- None of the infants showed a clinical response to enalapril, contrary to some anecdotal reports.
Conclusions:
- This case series expands the understanding of the genetic landscape of CNS in India.
- The findings suggest that enalapril may not be effective in all cases of NPHS1-related CNS.
- Emphasizes the critical need for advanced genetic testing facilities for improved CNS management in India.
Abstract:
Information on the genetic profile of congenital nephrotic syndrome (CNS) from India is scarce. The management of CNS is largely supportive of the setting of developing countries, mainly via the administration of intravenous albumin infusions, angiotensin-converting enzyme inhibitors, and levothyroxine. Inadequate infrastructure and management facilities, including genetic analyses, further hamper the outcome. These infants may progress to end-stage renal disease, and mortality is high in infancy. Here, we report a case series of four infants (aged 14-60 days) with CNS from our center with genetic mutations (including mutations in the NPHS1 and LAMB2 genes) that were not described in previous reports from India. Although responsiveness to enalapril has been documented in anecdotal reports of NPHS1 mutations, our case series of four infants did not exhibit any response to enalapril. Our case series adds to the existing literature regarding the genetic profile of CNS in India.
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