Dataset Information

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

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Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare <i>CTNS</i> mutation.

Anastasiya Kozina A KA Elena Okuneva G OG Natalia Baryshnikova V BV Anna Krasnenko Yu KY Kirill Tsukanov Yu TY Olesya Klimchuk I KI Tatiana Nikishina A NA Inessa Fedoniuk D FD Ekaterina Surkova I SI Peter Shatalov A SA Valery Ilinsky V IV

Clinical case reports 20180811 9

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. ...[more]

PMID: 30214781

Dataset Information

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

Publications

Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare <i>CTNS</i> mutation.

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