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Vitamin A responsive night blindness in Dent's disease
Sidharth Kumar Sethi1, Michael Ludwig, Madhulika Kabra
1Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Pediatric Nephrology (Berlin, Germany)
|May 16, 2009
Summary
Dent's disease, a kidney disorder caused by CLCN5 gene mutations, presents early in Indian boys with unique symptoms. Researchers identified novel mutations, advancing understanding of this X-linked condition.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Dent's disease is an X-linked renal tubular disorder.
- It is characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis or nephrolithiasis.
- Mutations in the CLCN5 gene cause Dent's disease.
Observation:
- Three boys of Indian origin presented with early-onset Dent's disease (1-4 years).
- Symptoms included polyuria, polydipsia, salt craving, vitamin A-responsive night blindness, hypophosphatemic rickets, hypercalciuria, and low molecular weight proteinuria.
- These clinical features suggest a specific phenotype in this population.
Findings:
- Novel mutations in the CLCN5 gene were identified in all three patients.
- This confirms the genetic basis of Dent's disease in these cases.
- The identified mutations contribute to the spectrum of CLCN5 pathogenic variants.
Implications:
- Early diagnosis and management of Dent's disease are crucial.
- Understanding genotype-phenotype correlations can improve patient care.
- Further research into CLCN5 mutations may reveal new therapeutic targets.
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