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

Six generations of a Japanese family had gouty arthritis and progressive nephropathy. Data on nine of 51 women (18%) and 15 of 66 men (23%) with either asymptomatic hyperuricaemia, gouty arthritis, or renal insufficiency were obtained. Renal function in four men and one woman with hyperuricaemia or gouty arthritis was also examined. Urinary excretion of uric acid was decreased in all subjects examined, including the young. Erythrocyte phosphoribosylpyrophosphate synthetase and hypoxanthine-guanine phosphoribosyltransferase activities determined in 10 patients were normal. Some patients had been treated with allopurinol to reduce serum uric acid concentrations, but the treatment did not prevent progression of renal impairment. Transmission of the disease in this large family is considered to be autosomal dominant. The data suggest that the disease in this family is the same entity as that described by other workers--that is, familial urate nephropathy. As far as is known this is the largest family with this disease so far reported.
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PMID:Autosomal dominant transmission of gouty arthritis with renal disease in a large Japanese family. 184 94

Hyperuricemic nephropathy can progress to the permanent renal damage even in infancy in partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. We have encountered two unrelated patients with partial HPRT deficiency, and found that early detection of the disease and long-term management for hyperuricemia were necessary to prevent renal impairment. The HPRT gene is situated in the q26-27 region of the long arm of the X-chromosome, and females with mutant HPRT alleles are heterozygous for the disease, and they develop gout after menopause. We undertook the investigation of carriers in the two patients' families, using BamHI restriction fragment length polymorphisms and oligonucleotide probes that recognized the specific mutations within the HPRT gene. We also demonstrated that the allele frequencies of BamHI restriction fragment length polymorphisms in 62 Japanese females were 0.36 for the 22-kb/25-kb allele, 0.41 for the 12-kb/25-kb allele, and 0.23 for the 22-kb/18-kb allele, resulting in a heterozygous state in 66% of females.
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PMID:Carrier detection of partial hypoxanthine-guanine phosphoribosyltransferase deficiency by analysis with BamHI restriction fragment length polymorphisms and oligonucleotide probes. 197 37

Urinary catecholamines (Norepinephrine : NE, Epinephrine : E) methoxylated amines (Metanephrine : MN, Normetanephrine : NMN) and 3-methoxy-4-hydroxyphenylglycol (MHPG) have been studied in the Lyon hypertensive strain of rats (LHS) and their normotensive controls (LNS) at three ages (5, 9 and 21 weeks) characteristic of the development of hypertension. In 5-week-old rats, increased excretion of E, MN, NMN and early elevation of the ratio E/E+NE were observed, thus suggesting a sympatho-adrenal hyperactivity, with accelerated maturation of E secretion. At adult age, the excretion of most adrenergic metabolites was similar in the two strains of rats. However, the data from adult LHS are difficult to interpret because of a potential renal impairment at this age. Furthermore, there was a positive correlation between systolic blood pressure and urinary catecholamines at 5 weeks and 9 weeks of age but not at 21 weeks. It is suggested that the early sympathoadrenal hyperactivity, which disappears with age, may be related to the onset of hypertension in the Lyon strain of hypertensive rats.
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PMID:Urinary excretion of catecholamines and metabolites in the Lyon strain of genetic hypertensive rats. 741 44

Hypoxanthine phosphoribosyltransferase (HPRT) deficiency is an inherited disorder. Complete deficiency of HPRT activity is phenotypically expressed as the devastating Lesch-Nyhan syndrome. Partial HPRT deficiency usually causes hyperuricemia, precocious gout, and uric acid nephrolithiasis. We describe an 18-year follow-up of a 5-year old boy with partial HPRT deficiency and report a novel mutation in his HPRT gene. He presented with overproduction of uric acid and passage of uric acid renal stones, and without gout or neurological and behavioral abnormalities. Treatment with allopurinol, adequate hydration, urinary alkalization, and a low-purine diet was started. No subsequent nephrolithiasis has occurred. After 18-year of this therapy his physical and neuropsychological status were normal, merely his glomerular filtration rate (GFR, normal 97-137 mL min(-1)/1.73 m(2)) fell from normal to 65.1 mL min(-1). The most likely cause of initial renal impairment in our patient is uric and/or xanthine crystalluria. A missense and transition mutation 169A>G (57ATG>GTG, 57met>val) in exon 3 of the patient's HPRT gene was identified and the mother was the carrier of the mutation. As far as we are aware, the identified mutation has not previously been reported. We named the mutant HPRT Maribor.
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PMID:Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation. 1596 71