Atypical Onset of Nephropathic Infantile Cystinosis in a Russian Patient with Rare CTNS Mutation

Kozina A. Anastasiya,Okuneva G. Elena,Baryshnikova V. Natalia,Krasnenko Yu. Anna,Tsukanov Yu. Kirill,Klimchuk I. Olesya, Nikishina A. Tatiana,Fedoniuk D. Inessa,Surkova I. Ekaterina,Shatalov A. Peter,Ilinsky V. Valery

Clinical Case Reports（2018）

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摘要

We report a Russian patient with atypical onset of infantile nephropathic cystinosis. The disease debuted with vomiting and loss of weight and motor skills. Nephropathic changes appeared 6 months after onset of disease. Exome sequencing can be useful for diagnosing cystinosis in patients with neurological abnormalities before onset of nephropathic symptoms.

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