Cistinosis nefropática: caso clínico que ilustra diagnóstico molecular
Rev. méd. Chile; 146 (1), 2018
Nephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, with a common variant that consists of a 57kb-deletion involving CTNS. Patients with NC that are treated with cysteamine improve their life quality and expectancy. We report a 12-month-old girl with a poor...