Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation.
Kozina A AnastasiyaOkuneva G ElenaBaryshnikova V NataliaKrasnenko Yu AnnaTsukanov Yu KirillKlimchuk I OlesyaNikishina A TatianaFedoniuk D InessaEkaterina Ivanovna SurkovaShatalov A PeterIlinsky V ValeryPublished in: Clinical case reports (2018)
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.