Cystinosis induced by / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 1276-1281, 2021.
Article
in English
| WPRIM
| ID: wpr-922247
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
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Cornea
/
Cystinosis
/
Amino Acid Transport Systems, Neutral
/
Rare Diseases
/
Hypokalemia
/
Mutation
Limits:
Humans
/
Infant
/
Male
Language:
English
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2021
Type:
Article
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