Cystinosis induced by / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 1276-1281, 2021.
Artigo
em Inglês
| 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
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Córnea
/
Cistinose
/
Sistemas de Transporte de Aminoácidos Neutros
/
Doenças Raras
/
Hipopotassemia
/
Mutação
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2021
Tipo de documento:
Artigo
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