Saudi Journal of Kidney Diseases and Transplantation (Jan 2016)

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis

  • Vaishali More,
  • Preeti Shanbag

DOI
https://doi.org/10.4103/1319-2442.182438
Journal volume & issue
Vol. 27, no. 3
pp. 598 – 601

Abstract

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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.