Open AccessAtypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation
Author(s) -
Anastasiya Kozina A.,
Elena Okuneva G.,
Natalia Baryshnikova V.,
Anna Krasnenko Yu.,
Kirill Tsukanov Yu.,
Olesya Klimchuk I.,
Tatiaikishina A.,
Inessa Fedoniuk D.,
Ekaterina Surkova I.,
Peter Shatalov A.,
Valery Ilinsky V.
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1678
Subject(s) - cystinosis , medicine , pediatrics , rare disease , exome sequencing , lysosomal storage disease , disease , vomiting , mutation , surgery , cystine , genetics , biochemistry , chemistry , cysteine , biology , enzyme , gene
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.