Intermediate type cystinosis with a novel CTNS variant in a child: a case report
Mugahid Elamin,
Ghada Alzhrany,
Reem Mohamed
et al.
Abstract:Cystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues. It has been classified into three subtypes based on its clinical presentation: severe infantile nephropathic cystinosis, intermediate mild form, and ocular non-nephropathic adult form. We report a teenage girl who presented with end stage kidney disease as her first presentation and was found to have corneal cystine crystals upon ophthalmic evaluation. Genetic te… Show more
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