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Query: UMLS:C0018099 (gout)
 5,192 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This review explores the relationship between uric acid or urate and the pathogenesis of renal impairment. The following points and conclusions are emphasized: (1) uric acid is an end product of purine degradation in humans and normally depends upon renal excretion for the majority of its elimination from the body; (2) massive urate overproduction - usually occurring acutely because of tumor lysis, rhabdomyolysis, or some other cause of rapid nucleic acid turnover or tissue destruction - tends to cause acute renal failure because of an increase of intratubular uric acid precipitation and obstruction; (3) chronic urate overproduction (with increased urate excretion) is more likely to be associated with stones or gout than with acute renal failure; (4) chronic asymptomatic hyperuricemia is unlikely to cause renal disease, gout, or stones, but is associated with cardiovascular impairment over the long term, and (5) asymptomatic hyperuricemia may serve as an indicator of renal vascular disease, or, to the extent that it may reflect insulin-induced acceleration of renal tubule urate reabsorption, hyperuricemia may serve as an indicator of insulin resistance. Therefore chronic asymptomatic hyperuricemia may predict the adverse cardiovascular consequences of insulin resistance.
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PMID:Hyperuricemic nephropathies. 987 14

We describe an HPRT deficiency in a 2-month-old child who presented acute renal failure and gout with normal mental and motor development for age. The patient was diagnosed with Lesch-Nyhan disease and showed a new mutation, a deletion of two bases in exon 3 of the HPRT gene (c.269-270delAT).
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PMID:HPRT deficiency in a two-month-old child presenting acute renal failure and gout with a new deletion of two bases in exon 3 of the HPRT gene. 1741 96

The overall incidence of nephrolithiasis-related acute and chronic renal failure is poorly known and surely underestimated. However, obstructive nephropathy represents a potentially curable form of kidney disease that often requires for managing an instrumentation of urinary tract. Rasburicase is an enzyme that transforms uric acid to allantoin, a compound more water soluble that will be excreted by the kidney more easily. Rasburicase has been proven to be an effective therapy for prevention of tumour lysis syndrome. But it also represents an interesting new option in managing hyperuricemia in patients with severe tophaceous gout. We administered rasburicase intravenously (0.20 mg/kg/day, for 2 days) in 2 adults with acute obstructive nephropathy from renal calculi, which was receiving temporary haemodialysis. Rasburicase produced a sharp polyuria 12-18 hours after its administration accompanied with a fast reduction of serum creatinine levels, that returned to normal range without further dialysis. If we suppose that rasburicase can pass through glomerular filter by its relatively low molecular weight, it could dissolve tubular uric acid crystals in acute renal failure associated to tumour lysis syndrome, providing the restoration of renal function. But we also could postulate that rasburicase can act in urinary tract, fragmentating renal calculi, promoting relief of obstructive uropathy and the resolution of renal failure. We suggest rasburicase should be tried in this new indication to prove its potential efficacy.
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PMID:[Efficacy of rasburicase therapy in obstructive renal failure secondary to urolithiasis: a novel therapeutic option]. 1833 40

Renal hypouricemia is an inherited disorder characterized by impaired renal urate (uric acid) reabsorption and subsequent low serum urate levels, with severe complications such as exercise-induced acute renal failure and nephrolithiasis. We previously identified SLC22A12, also known as URAT1, as a causative gene of renal hypouricemia. However, hypouricemic patients without URAT1 mutations, as well as genome-wide association studies between urate and SLC2A9 (also called GLUT9), imply that GLUT9 could be another causative gene of renal hypouricemia. With a large human database, we identified two loss-of-function heterozygous mutations in GLUT9, which occur in the highly conserved "sugar transport proteins signatures 1/2." Both mutations result in loss of positive charges, one of which is reported to be an important membrane topology determinant. The oocyte expression study revealed that both GLUT9 isoforms showed high urate transport activities, whereas the mutated GLUT9 isoforms markedly reduced them. Our findings, together with previous reports on GLUT9 localization, suggest that these GLUT9 mutations cause renal hypouricemia by their decreased urate reabsorption on both sides of the renal proximal tubules. These findings also enable us to propose a physiological model of the renal urate reabsorption in which GLUT9 regulates serum urate levels in humans and can be a promising therapeutic target for gout and related cardiovascular diseases.
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PMID:Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. 1902 95

An extensive range of molecular defects have been identified in the human mitochondrial genome (mtDNA), many associated with well-characterised, progressive neurological syndromes. We describe a patient who presented to a mitochondrial clinic with progressive bilateral ptosis, external opthalmoplegia and increasing difficulty with walking. He had previously been diagnosed with a dominant, demyelinating polyneuropathy due to PMP22 gene duplication and had also developed gout, presenting in acute renal failure, due to an X-linked recessive HPRT gene mutation. Muscle biopsy revealed many COX-deficient fibres which we show contain high levels of a third genetic defect--a novel, mitochondrial tRNA(Leu(CUN)) (MTTL2) gene mutation.
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PMID:Neuromuscular disease presentation with three genetic defects involving two genomes. 1985 45

We report a case of patient suffering from chronic tophaceous gout of multiple, large joints. The patient was diagnosed with acute renal failure by immobilization hypercalcemia and successfully treated with fluid and diuretics, rehabilitative exercises, and bisphosphonate, without further recurrence during six months follow-up. Acute renal failure can occur in the patient with gout as an acute uric acid nephropathy due to the deposition of uric acid within the renal tubules. Immobilization hypercalcemia is a rare cause of acute renal failure in patients with immobilization due to the limitation of motion. We suggest that immobilization can be a possible cause of hypercalcemia-induced acute renal failure in patients with chronic tophaceous gout involving multiple large joints, and clinical alertness is needed to avoid unnecessary evaluations and life-threatening complications.
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PMID:Immobilization hypercalcemia-associated acute renal failure in a patient with chronic tophaceous gout. 1992 96

Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied two families who had severe hereditary hypouricemia and did not have a URAT1 defect. We performed a genome-wide homozygosity screen and linkage analysis and identified the candidate gene SLC2A9, which encodes the glucose transporter 9 (GLUT9). Both families had homozygous SLC2A9 mutations: A missense mutation (L75R) in six affected members of one family and a 36-kb deletion, resulting in a truncated protein, in the other. In vitro, the L75R mutation dramatically impaired transport of uric acid. The mean concentration of serum uric acid of seven homozygous individuals was 0.17 +/- 0.2 mg/dl, and all had a fractional excretion of uric acid >150%. Three individuals had nephrolithiasis, and three had a history of exercise-induced acute renal failure. In conclusion, homozygous loss-of-function mutations of GLUT9 cause a total defect of uric acid absorption, leading to severe renal hypouricemia complicated by nephrolithiasis and exercise-induced acute renal failure. In addition to clarifying renal handling of uric acid, our findings may provide a better understanding of the pathophysiology of acute renal failure, nephrolithiasis, hyperuricemia, and gout.
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PMID:Homozygous SLC2A9 mutations cause severe renal hypouricemia. 1992 91

Hyperuricemia may result from under-excretion or over-production of uric acid. Both may be congenital or acquired. Hyperuricemia may harm the kidney in three ways: by forming renal stones, by blocking tubules and causing acute renal failure, and in those with gout it may contribute to chronic interstitial nephritis. Asymptomatic hyperuricemia of modest degree does not harm the kidneys. Whether or not levels persistently over 10 mg% can do so is open to question, but many physicians consider treatment wise at this point.
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PMID:Hyperuricemia. 2046 37

Treatment of asymptomatic hyperuricemia to prevent gout, renal failure, or kidney stones is not justified. Similarly, the risks of developing either renal failure or kidney stones as a consequence of asymptomatic hyperuricemia are extremely low and do not justify intervention. Only in tumor lysis syndromes is therapy to prevent acute renal failure logical. Serum urate measurement should be requested in only very limited clinical circumstances.
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PMID:Treatment of Asymptomatic Hyperuricemia: When do you have a good reason to provide therapy? 2122 96

A 67-year old man was hospitalized due to an aorto-coronary bypass and cecal perforation. After administration of atorvastatin, amiodarone, and fluconazole, rhabdomyolysis developed with electrolyte disturbances (hyperphosphatemia, hyopcalcemia) and a massive increase in creatine kinase and myoglobin. In the clinical course, other complications manifested such as acute renal failure, critical illness myopathy, acute gout on the knee, and sternal infection with coagulase-negative staphylococci. After stopping the assumed causal agents and treating the complications, the patient could be transferred for rehabilitation after a more than two months hospital stay. We discuss the causes and symptoms of muscle diseases as well as the epidemiology, mechanisms, treatment, and prevention of drug-induced myopathies with a focus on statins.
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PMID:[Rhabdomyolysis associated with atorvastatin combined with amiodarone and fluconazole]. 2136 57


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