Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation.

ABSTRACT: 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.

SUBMITTER: Anastasiya KA 

PROVIDER: S-EPMC6132087 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature