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Bartter syndrome associated with nephropathic cystinosis
Nader M Osman1, Ali Al Sanosi2
1Omdurman Islamic University , Sudan.
Sudanese Journal of Paediatrics
|January 19, 2017
Summary
This study reports a rare case of a child with Bartter syndrome and nephropathic cystinosis, highlighting the co-occurrence of these genetic kidney disorders. The findings emphasize the complexity of diagnosing and managing such complex pediatric renal conditions.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Rare Diseases
Background:
- Bartter syndrome is a rare inherited renal tubulopathy affecting the thick ascending limb of the loop of Henle.
- Nephropathic cystinosis is a lysosomal storage disorder leading to progressive kidney failure and multi-organ damage.
- Co-occurrence of these distinct genetic disorders is exceptionally rare.
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