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

Autor:	Anastasiya, Kozina A., Elena, Okuneva G., Natalia, Baryshnikova V., Anna, Krasnenko Yu., Kirill, Tsukanov Yu., Olesya, Klimchuk I., Tatiana, Nikishina A., Inessa, Fedoniuk D., Ekaterina, Surkova I., Peter, Shatalov A., Valery, Ilinsky V.
Předmět:	CYSTINOSIS WEIGHT loss MOTOR ability EXOMES KIDNEY diseases
Zdroj:	Clinical Case Reports; Sep2018, Vol. 6 Issue 9, p1871-1876, 6p
Abstrakt:	Key Clinical Message: 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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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