Document Detail

Familial hypouricaemia due to an isolated tubular defect of urate reabsorption.
MedLine Citation:
PMID:  8439489     Owner:  NLM     Status:  MEDLINE    
Hypouricaemia due to an isolated renal tubular defect is a rare condition. Several members from an affected family are described. The propositus is a 12-year-old girl with hypouricaemia (0.7-1.1 mg/dl) and increased fractional excretion of uric acid (50%). Pyrazinamide and sulphinpyrazone tests revealed an attenuated response in this subject to both drugs. The mother and one of the propositus' two brothers have the same defect. The other brother has uric acid levels at the lower limit of normal and increased fractional excretion of uric acid. These results suggest familial hypouricaemia due to a pre-secretory reabsorptive tubular defect, transmitted by autosomal dominant inheritance.
D Barajas de Frutos; B Bravo Mancheño; N Palomino Urda; J Pedrero Vera
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  7     ISSN:  0931-041X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  1993 Feb 
Date Detail:
Created Date:  1993-03-29     Completed Date:  1993-03-29     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  83-5     Citation Subset:  IM    
Paediatric Nephrology Section, Hospital Maternoinfantil, Granada, Spain.
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MeSH Terms
Kidney Tubules / metabolism*
Metabolism, Inborn Errors / blood*,  complications*,  genetics
Uric Acid / blood*,  metabolism,  urine
Reg. No./Substance:
69-93-2/Uric Acid

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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