Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P00492 (hypoxanthine-guanine phosphoribosyltransferase)
 2,385 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A family is reported where four males have developed hyperuricemia, renal damage and, except for the youngest person affected, gout at an early age. The disease appears to be inherited as an X-linked recessive metabolic error. Clinically the patients have developed classical, tophaceous gout before the age of 25 and have suffered repeated attacks of renal colic. Renal tubular damage with decreased ability to concentrate and acidify urine was seen in a family member of only 16 years of age. Progressive renal failure seems to develop slowly. None in the family has shown neurologic symptoms, and two of the four affected men are apparently of at least average intelligence, two slightly below average. One female carrier has repeatedly passed uric acid stones. Studies of the red blood cell lysate have shown a normal activity of enzyme hypoxanthine phosphoribosyltransferase, and an increased level of adenine phosphoribosyltransferase. Skin fibroblasts from affected family members grew normally in the presence of 8-azaguanine. Administration of azathioprine to the patients did not decrease their serum uric acid levels. This is the first family described with this type of disorder of the purine metabolism.
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PMID:Recessive X-linked hyperuricemia with gout and renal damage, normal activity of hypoxanthine phosphoribosyltransferase and resistance to azaguanine. 42 44

The objective of this study was to review sequential renal sonograms of patients with Lesch-Nyhan syndrome obtained over several years to determine different sonographic patterns, the alterations in the patterns occurring over time and the relationship to management. Additional objectives were to evaluate the size of the kidneys, and to correlate the metabolic constituents of calculi with the therapeutic regimens and with the renal sonographic patterns. Serial sonograms of six patients with Lesch-Nyhan syndrome were reviewed for periods varying between 2 and 7 years with a mean of 4 years. The ages of the patients at the conclusion of the study were between 10 and 22 years. Three patterns of abnormal echogenicity were found; a punctate increase in echogenicity in the renal medullary pyramids, a diffuse increase in medullary pyramid echogenicity, and a pattern of increased echogenicity in the collecting system. These patterns were progressive but did not alternate on sequential scans, regardless of increasing or constant therapy. Analysis of calculi suggested patients were precipitating various metabolites concurrently; the incidence of metabolites appeared to be unrelated to therapy. Those patients with shadowing opacities, whether in the renal medulla or collecting system, were more likely to develop renal colic. Renal dimensions were small with renal function remaining normal.
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PMID:Serial renal sonographic evaluation of patients with Lesch-Nyhan syndrome. 788 88