Document Detail

Familial hypouricemia due to isolated renal tubular defect. Attenuated response of uric acid clearance to probenecid and pyrazinamide.
MedLine Citation:
PMID:  854144     Owner:  NLM     Status:  MEDLINE    
A 37-year-old female was found to have hypouricemia (1.1-1.9 mg%) with markedly increased uric acid clearance (24.7039.5 ml/min). Uric acid excretion was only slightly affected by pyrazinamide, a drug which suppresses renal tubular uric acid secretion, and by probenecid, a drug which inhibits tubular uric acid reabsorption. The attenuated response in this subject to both drugs suggest a renal tubular defect in the proximal high capacity-high affinity uric acid reabsorption mechanism. No other renal tubular or metabolic abnormalities were detected. A survey of the family-three sisters and two brothers, revealed two similarly affected sisters. The abnormality described in this family is defined as familial renal hypouricemia due to an isolated renal tubular defect with attenuated response of uric acid clearance to probenecid and pyrazinamide.
D Benjamin; O Sperling; A Weinberger; J Pinkhas; A de Vries
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Nephron     Volume:  18     ISSN:  0028-2766     ISO Abbreviation:  Nephron     Publication Date:  1977  
Date Detail:
Created Date:  1977-06-11     Completed Date:  1977-06-11     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0331777     Medline TA:  Nephron     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  220-5     Citation Subset:  IM    
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MeSH Terms
Kidney Diseases / diagnosis,  genetics*,  physiopathology,  urine
Kidney Function Tests
Kidney Tubules, Proximal / physiopathology*
Probenecid / diagnostic use*
Pyrazinamide / diagnostic use*
Uric Acid / blood*
Reg. No./Substance:
57-66-9/Probenecid; 69-93-2/Uric Acid; 98-96-4/Pyrazinamide

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

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