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)

To the most important prophylactic measures for the prevention of a disturbance of the purine metabolism belong the normalisation of the body-weight, a mixed diet without protein carriers containing much purine, a regular physical activity, a life without hectic conditions as well as without an excess of conflict situations and a moderate taking of alcohol. These recommendations are of particular importance for patients endangered by gout. In patients with hyperuricaemia they form the basic treatment for the prevention of a uric arthritis, a urate nephrolithiasis and a gouty nephropathy. The clinical and paraclinical results of the directives must be continuously tested with regard to the effectiveness. To the comprehensive prophylaxis also belong the preventive measures against an associated disturbance of an associated disturbance of metabolism or concomitant disease. An additional medicamentous therapy is necessary, when the success of the basic therapy is insufficient and there are already organ manifestations of a disturbance of the purine metabolism. The application of antihyperuraemic drugs corresponding to types should be performed by uricostatic drugs, uricosuric drugs and citric acid-citrate mixtures. The approach according to a 3-step-programme is most useful. In the treatment of the concomitant diseases certain preventive measures are to be taken into consideration. The therapy of an acute attack of gout is at present without any essential problems. Patients with disturbances of the purine metabolism need a permanent care by the physician.
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PMID:[Prevention and therapy of disorders of purine metabolism]. 713 86

According to the literature gout is more frequent in Dalmatia than in continental part of Croatia. Higher average values of uric acid in serum, prevalence of hyperuicaemia as well as uric nephrolithiasis are also seen more frequently in Dalmatia comparing to the continental Croatia. This is probably genetically determined and is connected with metabolic changes of uric acid. Relative isolation of population in Dalmatian where the part of immigrants from other regions since the war started was very small favoured these changes. In addition some exogenous factors contribute in clinical manifestation of uric acid metabolic disturbances. The most important among them are consumption of food rich in nucleoproteins and dehydration in summer period.
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PMID:[The frequency of gout and other disorders of uric acid metabolism in Dalmatia in comparison with these disorders in Croatia]. 776 4

Although gout and hyperuricaemia are usually thought of as conditions of indulgent male middle age, in addition to the well-known uricosuria of the newborn, there is much of importance for the paediatric nephrologist in this field. Children and infants may present chronically with stones or acutely with renal failure from crystal nephropathy, as a result of inherited deficiencies of the purine salvage enzymes hypoxanthine-guanine phosphoribosyltransferase (HPRT) and adenine phosphoribosyltransferase (APRT) or of the catabolic enzyme xanthine dehydrogenase (XDH). Genetic purine overproduction in phosphoribosylpyrophosphate synthetase superactivity, or secondary to glycogen storage disease, can also present in infancy with renal complications. Children with APRT deficiency may be difficult to distinguish from those with HPRT deficiency because the insoluble product excreted, 2,8-dihydroxyadenine (2,8-DHA), is chemically very similar to uric acid. Moreover, because of the high uric acid clearance prior to puberty, hyperuricosuria rather than hyperuricaemia may provide the only clue to purine overproduction in childhood. Hyperuricaemic renal failure may be seen also in treated childhood leukaemia and lymphoma, and iatrogenic xanthine nephropathy is a potential complication of allopurinol therapy in these conditions. The latter is also an under-recognised complication of treatment in the Lesch-Nyhan syndrome or partial HPRT deficiency. The possibility of renal complications in these three situations is enhanced by infection, the use of uricosuric antibiotics and dehydration consequent upon fever, vomiting or diarrhoea. Disorders of urate transport in the renal tubule may also present in childhood. A kindred with X-linked hereditary nephrolithiasis, renal urate wasting and renal failure has been identified, but in general, the various rare types of net tubular wasting of urate into the urine are recessive and relatively benign, being found incidentally or presenting as colic from crystalluria. However, the opposite condition of a dominantly inherited increase in net urate reabsorption is far from benign, presenting as familial renal failure, with hyperuricaemia either preceding renal dysfunction or disproportionate to it. Paediatricians need to be aware of the lower plasma urate concentrations in children compared with adults when assessing plasma urate concentrations in childhood and infancy, so that early hyperuricosuria is not missed. This is of importance because most of the conditions mentioned above can be treated successfully using carefully controlled doses of allopurinol or means to render urate more soluble in the urine. Xanthine and 2,8-DHA are extremely insoluble at any pH. Whilst 2,8-DHA formation can also be controlled by allopurinol, alkali is contraindicated. A high fluid, low purine intake is the only possible therapy for XDH deficiency.
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PMID:Gout, uric acid and purine metabolism in paediatric nephrology. 843 71

The purpose of this study was to determine the characteristics of gouty arthritis in an urban Guatemalan population. We reviewed the medical records of 148 (145 males and 3 females) patients with a diagnosis of acute gouty attack seen at an urban rheumatology clinic in Guatemala City between 1982 and 1993. Mean age at diagnosis was 49 years (range 21-87), mean age of onset was 42 years, mean duration of disease 7.4 years, family history of gout 42 (28%), peak prevalence 5th decade 39 (26%). Seventy-one (48%) had monarticular, 49 (33%) oligoarticular, and 22 (15%) polyarticular attacks, respectively. Podagra was seen in 34 (23%) patients; however, 108 (73%) developed it at any moment of their life. Tophaceous gout was seen in 33 (22%). Mean serum urate concentrations (enzymatic method) were higher than 7.0 mg % in 90 (60%) patients. At follow-up, 44 (30%) patients never returned to our clinic, and a large majority of them [66 (45%)] were seen only during acute attacks. Associated disorders included hypertension (43%), obesity (27%), nephrolithiasis (16%), ischaemic heart disease (7%), renal insufficiency (2%), stroke (0.6%), and diabetes mellitus (0.6%), and two died due to sepsis; high alcoholic intake was found in 58 (39%) patients. In conclusion, our findings indicate that gout is not an unusual disorder in the Guatemalan population. It presents with the same characteristics as those reported in Caucasians, with the possible exception of a lower frequency of diabetes mellitus as an associated disorder.
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PMID:Characteristics of gouty arthritis in the Guatemalan population. 913 25

Gout is a disease resulting from the deposition of urate crystals caused by the overproduction or underexcretion of uric acid. The disease is often, but not always, associated with elevated serum uric acid levels. Clinical manifestations include acute and chronic arthritis, tophi, interstitial renal disease and uric acid nephrolithiasis. The diagnosis is based on the identification of uric acid crystals in joints, tissues or body fluids. Treatment goals include termination of the acute attack, prevention of recurrent attacks and prevention of complications associated with the deposition of urate crystals in tissues. Pharmacologic management remains the mainstay of treatment. Acute attacks may be terminated with the use of nonsteroidal anti-inflammatory agents, colchicine or intra-articular injections of corticosteroids. Probenecid, sulfinpyrazone and allopurinol can be used to prevent recurrent attacks. Obesity, alcohol intake and certain foods and medications can contribute to hyperuricemia. These potentially exacerbating factors should be identified and modified.
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PMID:Diagnosis and management of gout. 1060 85

A major obstacle to the treatment of hyperuricemia in patients allergic to allopurinol is the limited availability of suitable, equally effective, alternative, urate-lowering drugs. Conventional uricosuric drugs, including probenecid and sulfinpyrazone, are recommended for allopurinol- intolerant patients with gout and "underexcretion" hyperuricemia who have normal renal function and no history of nephrolithiasis. Therapeutic options in those in whom traditional uricosuric drugs are contraindicated, ineffective, or poorly tolerated include slow oral desensitization to allopurinol and cautious administration of oxipurinol. Allopurinol desensitization is useful particularly in those who have failed other treatment modalities. If available (as in Europe, South Africa, and Japan), benzbromarone may be tried in patients with gout and mild-to-moderate renal insufficiency. Recombinant urate oxidase can be used in the short-term prophylaxis and treatment of chemotherapy- associated hyperuricemia in patients with lymphoproliferative and myeloproliferative disorders. Hyperuricemia and gout occur with increased frequency in cyclosporine-treated allograft transplant recipients. The management of gout in these patients is complicated by two main factors: cyclosporine-induced renal impairment, and interactions with medications used to preserve the allograft.
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PMID:Difficult gout and new approaches for control of hyperuricemia in the allopurinol-allergic patient. 1117 68

Different degrees of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency are associated with hyperuricemia, uric acid nephrolithiasis and severe gout. Up to 25-30% of HPRT deficient patients, indicated as neurological variants or HPRT-related hyperuricemia with neurological dysfunction (HRND), may develop neurological manifestation, from mild to severe; the most serious ones manifesting in the devastating Lesch-Nyhan syndrome, characterized by choreoathetosis or self-mutilation. Here we present a 30 years old male patient suffering from gout and mild psycho-motor impairment without Lesch Nyhan disease despite severe HPRT deficiency residual activity 0.02% with hypoxanthine, no activity at all with guanine as a substrate. The Curto's theory that neurologic impairment is dependent on VGPRT/VHPRT ratio is not confirmed by our observations. The finding of such a severe HPRT deficiency in a non-Lesch-Nyhan patient needs further investigation. G6PD deficiency was also referred together with beta-thalassemic trait. We have studied purine and pyridine nucleotide metabolism in the erythrocytes and discussed the literature. The bone marrow sample shows a megaloblastyc aspect.
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PMID:Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency. 1250 81

Gout is a group of diseases characterized by arthritis and results from a disturbance of urate metabolism with the deposition of monosodium urate crystals in the joints and soft tissues. Often, but not invariably, the serum urate levels are elevated as a result of overproduction or underexcretion of uric acid. Clinical manifestations include acute and chronic arthritis, tophaceous deposits, interstitial renal disease, and uric acid nephrolithiasis. The diagnosis is based on the identification of uric acid crystals in joints, tissues, or body fluids. Acute episodes are treated with colchicine, NSAIDs, or steroids. Long-term management includes treatment with uricosuric agents or xanthine oxidase inhibitors.
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PMID:Gout: a clinical and radiologic review. 1504 30

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

Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We report a case of partial HPRT deficiency presenting as chronic tophaceous gout, mental retardation, nephrolithiasis and family history suggestive of X-linked inheritance, for its rarity.
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PMID:Partial HPRT deficiency (Kelley-Seegmiller syndrome). 1664 40


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