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Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation. 2018
Kozina A Anastasiya, and
Okuneva G Elena, and
Baryshnikova V Natalia, and
Krasnenko Yu Anna, and
Tsukanov Yu Kirill, and
Klimchuk I Olesya, and
Nikishina A Tatiana, and
Fedoniuk D Inessa, and
Surkova I Ekaterina, and
Shatalov A Peter, and
Ilinsky V Valery
Institute of Biomedical Chemistry Moscow Russia.
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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