Rare Case-Nephropathic Cystinosis
DOI:
https://doi.org/10.65129/medical.v1i2.41Keywords:
Fanconi Syndrome, Lysosomal Storage Disorder, Nephropathic Cystinosis, Polyuria, RicketsAbstract
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder characterised by defective cystine transport across lysosomal membranes, leading to multiorgan involvement. We report a case of a 5-year-old male child presenting with growth failure, polyuria, rickets, and dyselectrolytemia. Diagnostic evaluation revealed Fanconi-like features and bilateral hydronephrosis. Genetic analysis was suggestive of nephropathic cystinosis. Early initiation of cysteamine therapy is crucial to delay progression to end-stage renal disease.
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