Document Detail


Lesch-Nyhan syndrome.
MedLine Citation:
PMID:  7147530     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Three cases of severe involvement of the kidney with calculi in patients with the Lesch-Nyhan syndrome are presented. Two patients have radiolucent uric acid calculi. The biochemistry and pathology of the Lesch-Nyhan syndrome is discussed. Mechanisms in one family is traced over five generations. Although this syndrome is rare, the possibility of its existence must be entertained in patients with retardation and arthritis.
Authors:
W J Morton
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Urology     Volume:  20     ISSN:  0090-4295     ISO Abbreviation:  Urology     Publication Date:  1982 Nov 
Date Detail:
Created Date:  1983-01-19     Completed Date:  1983-01-19     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0366151     Medline TA:  Urology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  506-9     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Child
Genetic Counseling
Georgia
Humans
Kidney Calculi / radiography*,  surgery
Kidney Pelvis / radiography
Lesch-Nyhan Syndrome / epidemiology,  genetics,  radiography*
Male
Nephrectomy
Pedigree
Urinary Diversion
Urography

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


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