Cystinosis induced by
10.7499/j.issn.1008-8830.2109042
- Author:
Xin WANG
1
;
Bi-Li ZHANG
1
;
Xiao-Ying CHEN
1
;
Zhen GUO
1
Author Information
1. Special Ward of Tianjin Children's Hospital, Tianjin 300134, China.
- Publication Type:Journal Article
- Keywords:
CTNS gene;
Child;
Cystinosis
- MeSH:
Amino Acid Transport Systems, Neutral/genetics*;
Cornea;
Cystinosis/genetics*;
Humans;
Hypokalemia;
Infant;
Male;
Mutation;
Rare Diseases
- From:
Chinese Journal of Contemporary Pediatrics
2021;23(12):1276-1281
- CountryChina
- Language:English
-
Abstract:
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 of phosphate. X-ray examinations of the head, thorax, and right hand showed changes of renal rickets. The slit-lamp examination showed a large number of cystine crystals in the cornea. The genetic testing showed a suspected pathogenic homozygous mutation of the
