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

Autor:	Kozina A. Anastasiya, Ilinsky V. Valery, Baryshnikova V. Natalia, Krasnenko Yu. Anna, Tsukanov Yu. Kirill, Nikishina A. Tatiana, Shatalov A. Peter, Fedoniuk D. Inessa, Klimchuk I. Olesya, Okuneva G. Elena, Surkova I. Ekaterina
Jazyk:	angličtina
Rok vydání:	2018
Předmět:	0301 basic medicine Pediatrics medicine.medical_specialty education 030232 urology & nephrology Case Report Disease Case Reports 03 medical and health sciences 0302 clinical medicine Nephropathic Cystinosis Medicine Exome sequencing cystine business.industry Infantile nephropathic cystinosis Fanconi syndrome General Medicine medicine.disease CTNS gene 030104 developmental biology Mutation (genetic algorithm) Cystinosis Vomiting nephropathic cystinosis medicine.symptom business exome sequencing
Zdroj:	Clinical Case Reports
ISSN:	2050-0904
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c62ae81d52b237d30a14cc0f28a8cfad http://europepmc.org/articles/PMC6132087 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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