A case of idiopathic renal hypouricemia / 소아과
Korean Journal of Pediatrics
; : 489-492, 2007.
Article
in En
| WPRIM
| ID: wpr-216253
Responsible library:
WPRO
ABSTRACT
Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. This disease usually produces no symptoms, but hematuria, uric acid nephrolithiasis or acute renal failure may develop. A defect in the SLC22A12 gene, which encodes the human urate transporter, is the known major cause of this disorder. We describe a 10-month-old boy with idiopathic renal hypouricemia. He was diagnosed with transient pseudohypoaldosteronism at admission, but hypouricemia was accidentally found through follow-up study. By gene analysis, his diagnosis was confirmed to idiopathic renal hypouricemia. In addition, we report a mutation in the human urate transporter 1 (hURAT1) gene identified in his family.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Uric Acid
/
Pseudohypoaldosteronism
/
Follow-Up Studies
/
Diagnosis
/
Nephrolithiasis
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Acute Kidney Injury
/
Hematuria
Type of study:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
Limits:
Humans
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Infant
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Male
Language:
En
Journal:
Korean Journal of Pediatrics
Year:
2007
Type:
Article