Document Detail


2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report.
MedLine Citation:
PMID:  1609669     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Inherited metabolic diseases resulting in urolithiasis secondary to urinary excretion of insoluble substances are rare but often present as urinary obstruction of renal insufficiency. We herein report a case of partial adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis. In family members the propositus and his younger brother are homozygotes for defective APRT genes, and who exhibits the type II phenotype designated APRT*J (Japanese type).
Authors:
Y Katsuoka; H Miyakita; M Shiramizu; H Iwagaki; T Ikeda
Related Documents :
23279769 - Acute ischaemic colitis; a case report.
7083669 - Familial arthrogryposis with distal involvement of the limbs.
2254729 - Hyperthyroidism and periodic paralysis.
10348469 - Validity of family history data on essential tremor.
6451669 - Early detection of huntington's disease. blink reflex and levodopa load in presymptomat...
16765829 - Chiari in the family: inheritance of the chiari i malformation.
6630579 - The pathology of meconium ileus equivalent.
1449149 - Antibiotic-associated fulminant pseudomembranous colitis without toxic megacolon.
11216389 - Intrauterine intussusception--a cause for ileal atresia.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Hinyokika kiyo. Acta urologica Japonica     Volume:  38     ISSN:  0018-1994     ISO Abbreviation:  Hinyokika Kiyo     Publication Date:  1992 May 
Date Detail:
Created Date:  1992-07-17     Completed Date:  1992-07-17     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0421145     Medline TA:  Hinyokika Kiyo     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  573-7     Citation Subset:  IM    
Affiliation:
Department of Urology, Tokai University School of Medicine, Isehara City.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adenine / analogs & derivatives*,  analysis
Adenine Phosphoribosyltransferase / deficiency*,  genetics
Child
Family Health
Genotype
Humans
Male
Urinary Calculi / chemistry,  enzymology,  etiology*
Chemical
Reg. No./Substance:
30377-37-8/2,8-dihydroxyadenine; 73-24-5/Adenine; EC 2.4.2.7/Adenine Phosphoribosyltransferase

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


Previous Document:  Bilateral ureteral obstruction secondary to aneurysm of abdominal aorta: a case report
Next Document:  Renal pelvic extravasation of urine associated with ureteral stones: report of two cases