Article
Cystinosis induced by CTNS gene mutation: a rare disease study.
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Dec 2021
Wang Xin, Zhang Bi-Li, Chen Xiao-Ying, Guo Zhen
Abstract excerpt
A boy, aged 1 year and 6 months, was found to have persistent positive urine glucose at the age of 4 months, with polydipsia, polyuria, and growth retardation. Laboratory examinations suggested that the boy had low specific weight urine, anemia, hypokalemia, hyponatremia, hypomagnesemia, metabolic acidosis, glycosuria, acidaminuria, increased fractional excretion of potassium, and decreased tubular reabsorption...
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