Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018099 (gout)
 5,192 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seven young adults with uric acid overproduction due to sickle cell anemia were normouricemic with a mean serum uric acid level of 4.9 mg/100 ml. Urate clearance was greater in these patients than in normal subjects or in patients with primary hyperuricemia due to uric acid overproduction. The increase in urate clearance was entirely accounted for by increased pyrazinamide suppressible urate clearance. Pyrazinamide administration abolished the uricosuric response to ribonucleic acid (RNA) feeding in these patients with sickle cell anemia, and maximal uricosuric response to the administration of probenecid was similar in the patients with sickle cell anemia and in normal subjects suggesting that reabsorption of both filtered and secreted urate was not impaired in sickle cell disease. Pyrazinamide suppressible urate clearance at maximal uricosuric response to probenecid was increased in patients with sickle cell disease suggesting increased tubular secretion of urate. This increase in urate secretion permits most young adults with urate overproduction due to sickle cell anemia to remain normouricemic and may account for the low frequency of secondary gout in this disease.
Am J Med 1975 Dec
PMID:Hyperuricosuria and increased tubular secretion of urate in sickle cell anemia. 110 19

Serum uric acid, triglycerides, cholesterol, and lipoprotein levels were determined in 35 patients with primary avascular necrosis of the femoral head. The results were compared with a control group and a group of gouty patients. Frequency distribution of the data in the three groups was found to be of the log normal type, and the statistical calculations were performed after log transformation of the serum values. Compared to the control group, a significant increase in the levels of triglycerides, cholesterol, pre-beta-lipoprotein, and uric acid were found in the patients with avascular necrosis. No significant difference was observed between lipid and lipoprotein levels in gout and avascular necrosis, although the serum uric acid was higher in the gouty patients. In contrast to the findings in gout, the uric acid levels did not correlate with the lipid or lipoprotein fractions in patients with avascular necrosis. There were no statistical differences between lipid, lipoprotein and uric acid levels in patients with avascular necrosis receiving corticosteroids or using alcohol, as compared with those not taking these drugs. It is concluded that avascular necrosis of bone complicating longterm use of steroids or alcohol is not induced directly by the two drugs, but that the initiating event may lie in lipid disturbances.
J Rheumatol 1975 Dec
PMID:Avascular necrosis and its relation to lipid and purine metabolism. 120 74

Ten patients with inflammatory disease (rheumatoid arthritis, ankylosing spondylitis, Reiter's disease) or metabolic disease (gout, pseudogout, tendinous xanthomatosis) affecting the Achilles tendons are presented and discussed. Radiological lateral views of heel were obtained with xeroradiographic techniques, which permitted the recording on the same image of details of both bone and soft tissue and the evaluation and quantification of the changes in the Achilles tendons. Xeroradiography seems to be a very suitable radiological technique for routine use in the evaluation and follow up of rheumatic diseases of the foot.
Ann Rheum Dis 1975 Dec
PMID:Xeroradiographic techniques applied to assessment of Achilles tendon in inflammatory or metabolic diseases. 122 36

The effects of low-mineral content water (Adelholzener Primus-Quelle) in 62 patients were studied of which 14 were hypertonic. Changes of blood sodium, potassium, chloride and bicarbonate were not observed in either group. In the hypertonic patients, blood pressure decreased from a mean systolic value of 168 to 140 mmHg and mean distolic pressure from 105 to 88 mmHg. Observations to date suggest the following indications for a low-mineral content water diet: 1. hypertension, 2. renal insufficiency in stages of compensated and decompensated retention, especially in cases with high serum potassium levels, 3. in the initial therapy of diabetes, gout and obesity; patients with a high water demand should be treated with low-mineral content water until the optimal intake of electrolytes is established.
Fortschr Med 1975 Dec 18
PMID:[Effects of water with a low mineral content on serum electrolytes and blood pressure]. 122 36

The elderly constitute a high-risk group in which the benefit of treatment of hypertension is now obvious. The initial drug should be a low-dose diuretic, followed by a beta-blocker. At present there are no data favoring the use of an ultra low-dose diuretic, such as 12.5 mg hydrochlorothiazide, unless there is coexisting prediabetes or gout.
Cardiovasc Drugs Ther 1992 Dec
PMID:Treatment of hypertension in the elderly--the end of the story? 129 73

Molecular characterization of in vivo mutation at the human hypoxanthine phosphoribosyltransferase (hprt) locus has revealed a broad spectrum of mutation, both with regard to germ-line mutation in Lesch-Nyhan and gout patients, and somatic mutation in 6-thioguanine resistant T-lymphocytes from healthy individuals. The pattern of missense mutation shows a non-random distribution with a preferential location to codons for amino acids which are identical in human and the two parasites Schistosoma mansoni and Plasmodium falciparum. Although these 'evolutionary conserved' amino acids account for only 32% of the amino acids in the human hprt protein, they are involved in 76% of the missense mutations at the hprt locus in human T-lymphocytes, 67% in Lesch-Nyhan patients (with severe hprt-deficiency), but only 43% in gout patients (with partial hprt deficiency). This observation supports the notion that evolutionary conserved amino acids constitute functionally important sites in the hprt enzyme, and missense mutations affecting these amino acids will often lead to complete loss of enzyme activity. Substitutions of 'non-conserved' amino acids cause less severe hprt-deficiency (as seen in the gout patients), or may even escape clinical diagnosis. These considerations are important for the understanding of structure-activity relationships in the hprt protein, possible differences between hprt mutational spectra in germ-line and somatic cells, and the mutational spectra induced by specific exogeneous mutagens.
Pharmacogenetics 1992 Dec
PMID:Missense mutations and evolutionary conserved amino acids at the human hypoxanthine phosphoribosyl-transferase locus. 130 34

Disorders of joints are commonly associated with Paget's disease of bone but are often disregarded or attributed to the underlying Pagetic condition. The authors evaluated a 69-year-old man with extensive Paget's disease of bone, degenerative arthritis, calcific periarthritis, and gout. The degenerative arthritis and calcific periarthritis of the shoulders was originally mistaken for Paget's disease of the proximal humerus. The wrist arthritis was attributed to Paget's disease until evaluation of surgical pathology specimens showed intraarticular gouty granulomas. In evaluating and treating a patient with Paget's disease of bone, the orthopedic surgeon should be aware that the successful treatment of associated articular disorders may require therapeutic measures in addition to those used in treating the Paget's disease.
Clin Orthop Relat Res 1992 Dec
PMID:The articular manifestations of Paget's disease of bone. A case report. 144 46

Five independent mutations in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene were identified in a partially HPRT deficient patient with gout and in four Lesch-Nyhan patients. Using the polymerase chain reaction (PCR) technique coupled with direct sequencing, the nucleotide sequences of the entire HPRT coding region amplified from the cDNA and also of each exon amplified form the genomic DNA were analyzed. Three independent point mutations in the coding region were detected in the partially HPRT deficient patient (Case 1) and in two Lesch-Nyhan patients (Case 2 and 3), resulting in single amino acid substitutions. The family study of Case 3, utilizing a PvuII restriction site created in the mutant gene, indicated that the mother was a heterozygote, and a sister and a fetal brother had inherited the normal HPRT gene from the mother. In two other mutants causing Lesch-Nyhan syndrome, a portion of the HPRT gene was deleted, and RNA splicing was missing in both mutants. A 4-bp deletion at the 5' end of exon 4 resulted in formation of three different types of abnormal mRNA (Case 4). The other mutant (Case 5) produced abnormal mRNA including 26 bp of intron 8 instead of the deleted 58 bp at the 5' end of exon 9, because of a 74-bp deletion from intron 8 to exon 9.
Hum Genet 1992 Dec
PMID:Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency. 148 94

Thiazide diuretics are efficacious, either as monotherapy or in combination with other antihypertensive drugs. They reduce blood pressure in a high percentage of hypertensive patients with minimal subjective side effects. There is increasing evidence that the use of diuretics, singly or in combination, will reduce morbidity and mortality associated with essential hypertension in both young and elderly subjects. Although diuretics may induce some changes in the plasma lipid profile, serum uric acid concentration and glucose metabolism, there is little evidence that these changes are of clinical significance. The increase in serum cholesterol concentration has rarely persisted in any trial beyond the first year of treatment. The incidence of diabetes mellitus in diuretic treated subjects is only about 1%, even when large doses are used. Gout may be precipitated in susceptible subjects, but is uncommon. For these reasons, diuretics should remain a preferred first-step drug of choice in the management of hypertension.
Eur Heart J 1992 Dec
PMID:Diuretics and cardiovascular risk factors. 148 10

Diuretics can result in various undesired biochemical changes, such as impotence, skin rashes, nausea, dizziness and lethargy as well as subjective side effects. The side effects are mostly predictable, their effects depending on both the circulatory blood volume and on the transport of water and solute in the renal tubules. Two of the commonest side effects are mild hypovolaemia, when any diuretic is used, and mild hypokalaemia when the non-potassium-sparing diuretics, such as thiazides and frusemide are used. Its occurrence is dose dependent and can be corrected by potassium supplements, but potassium-retaining diuretics, which also correct the often associated fall in serum magnesium, are preferable. Many reports link hypokalaemia with cardiac arrhythmias, but some dispute this association in the absence of the concomitant use of digoxin. Hyponatraemia rarely occurs, but can be life threatening. Calcium excretion is markedly reduced, but unlike other electrolyte disturbances from diuretics, this may be valuable: some suggest diuretics have an anti-osteoporotic action. Diuretics increase glucose and insulin resistance and should be used sparingly in diabetics. They rarely cause a non-ketotic hyperosmolar coma. Urate is raised, but clinical gout is not common. Cholesterol elevation has been reported in some studies, but long-term studies indicate that lipid changes are minor. Other rare side effects are not predictable from their pharmacological actions and these include the occurrence of skin rashes, thrombocytopenia, pancreatitis and interstitial nephritis; and ototoxicity from frusemide.
Eur Heart J 1992 Dec
PMID:Adverse reactions to diuretics. 148 14


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