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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2016  |  Volume : 27  |  Issue : 3  |  Page : 598-601
Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis


Division of Pediatric Nephrology, Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai, Maharashtra, India

Correspondence Address:
Preeti Shanbag
Division of Pediatric Nephrology, Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai - 400 022, Maharashtra
India
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DOI: 10.4103/1319-2442.182438

PMID: 27215258

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Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder. We describe the clinical features in a four and a half-year-old Indian boy with infantile nephropathic cystinosis that presented with the incomplete Fanconi syndrome, hydro-uretero-nephrosis with megacystis, and hypothyroidism.


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