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

This report describes a Polynesian family that had the rare combination of hyperuricemia, precocious gout, hypertension, and renal failure at an early age, with an autosomal dominant inheritance. One family member had renal biopsy evidence of interstitial urate crystal deposition, a surprisingly uncommon observation in such families, and most had decreased fractional excretion of urate, reflecting either decreased secretion or enhanced postsecretory renal reabsorption of uric acid. One patient has had a successful renal transplant. On the basis of these observations, family members of any such index case should be screened for this disorder. Treatment of affected members might include a uricosuric agent and/or allopurinol early in the course of the disorder.
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PMID:Familial hyperuricemic nephropathy. 784 50

Disorders in purine and pyrimidine metabolism may be difficult to recognize because their recent description means many are little known. They cover a broad spectrum of illnesses, can present from birth to the 80s, have multiple symptoms and lead to early death. Recognition of new disorders requires skill and serendipity. Often parents of affected children provide valuable clues. These disorders should be suspected, particularly where the history involves siblings, in anaemia, susceptibility to infection, or neurological deficits including autism, delayed development, epilepsy, self-mutilation, muscle weakness and - unusual in children and adolescents - gout. Some patients present with kidney stones, renal failure, alone or with the above, or as an intolerance/sensitivity to therapy (fluorouracil or azathioprine immunosuppression). These disorders can be detected from the abnormal metabolites in body fluids and/or altered enzyme activity. Abnormal cellular nucleotides or renal clearance may sometimes provide the only clue. Diagnosis can be difficult because of genetic heterogeneity and interference by blood transfusion, diet or drugs. Tests incorporating enzyme peak shifts and online diode-array detection are essential. Collaborative research is needed to improve the diagnosis and understanding of the metabolic basis for these sometimes devastating disorders and to apply this knowledge to the more common killers of mankind.
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PMID:When and how does one search for inborn errors of purine and pyrimidine metabolism? 803 39

Changes of the locomotor apparatus in prolonged uraemia with regular dialyzation treatment determine the quality of life with all its consequences for the patient. The greatest impact on osteodystrophic disease (the most typical finding on the skeleton) is exerted by the length of dialyzation treatment. Of 216 patients having regular dialyzation treatment in 1979 to 1992 the authors observed osteodystrophic disease in 25, i.e. 11.6%. As to other most frequently observed changes they recorded osteoporosis in 12.9%, only very rarely osteomalacia and even osteopetrosis (1.8%). Carpal tunnel syndrome was recorded in 17.4% as a symptom of so-called dialyzation amyloidosis and in one man they observed the development of typical rheumatoid arthritis shortly after the onset of haemodialyzation. This is a rare observation not described in the literature so far. Crystalline arthropathy, incl. typical attacks of gout, were recorded only in 11 patients (5%). Changes on the locomotor apparatus in conjunction with irreversible renal failure with regular dialyzation treatment were recorded in 45%. It is important to differentiate findings which are not associated with uraemia and haemodialysis. This applies in particular to osteoarthritis deformans of the joints and spine. In major uraemic changes participates in particular secondary hyperparathyroidism. These changes comprise in particular osteolysis or even spontaneous absorption, erosive changes and destructive spondylopathy. Contemporary findings on the locomotor apparatus are so varied that they must be classified.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[The locomotor system in irreversible renal failure treated with regular dialysis]. 835 76

To clearly determine whether hyperuricemia participates directly in atherosclerotic disease or not, the prognosis and associated factors were studied, based on data from 104 patients whose serum uric acid had been completely maintained at normal levels with prolonged medication. The mean age at death was 65.8 +/- 10.5 years. The causes of death were as follows: cardiovascular disease (26.9%), cerebral disease (26.2%), malignant neoplasms (26.0%), uremia (7.6%), and miscellaneous disease (18.3%). Serum lipids especially triglycerides, body weight and influenced on the prognosis of the patients FBS. Most common complications were in the cardiovascular disease group; hypertension and hyperlipidemia. These data suggested that the apparent increased incidence of cardiovascular disease in gout rather than renal failure bore a relationship to such complications as hypertension or hypertriglycemia. Hyperuricemia alone may not be an atherosclerotic risk factors. There was no correlation between treatment with allopurinol and probenecid and cardiovascular complications.
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PMID:[Hyperuricemia and atherosclerosis]. 841 89

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

High blood pressure (BP) in the elderly must not be ignored as a normal consequence of aging. The criteria for the diagnosis of hypertension and the necessity to treat it are the same in elderly and younger patients. The aim of treatment of elderly hypertensive patients is to decrease BP safely and to reduce risk factors associated with cerebrovascular, cardiovascular and renal morbidity and mortality. The treatment of elderly hypertensive patients should be adjusted according to the needs of the individual, based upon age, race, severity of hypertension, co-existing medical problems, other cardiovascular risk factors, target-organ damage, risk-benefit considerations and costs. In addition to the elevated BP, other cardiovascular risk factors include smoking, glucose intolerance, hyperinsulinaemia, dyslipidaemia, hypercreatininaemia, peripheral vascular disease, left ventricular hypertrophy, and microalbuminuria (or albuminuria). Thus, the choice of initial antihypertensive therapy in elderly hypertensive patients should be based not only on the expected response, but also on the effects of therapy on lipid, potassium, glucose and uric acid levels, and left ventricular anatomy and function. Co-existing medical conditions (such as asthma, diabetes mellitus, heart failure, renal failure, gout, coronary artery disease, hyperlipidaemia and peripheral vascular disease) are major determinants for the selection of antihypertensive medications. With previous therapies (diuretics, beta-blockers, etc.), good BP control in the elderly was associated with clear and statistically significant reductions in stroke-related morbidity and mortality, but the overall effects on cardiovascular and renal complications of hypertension was either more variable or less obvious. Angiotensin converting enzyme (ACE) inhibitors are not only efficacious antihypertensive agents in the elderly, but also appear promising in counteracting some of the cardiovascular and renal consequences of hypertension. They are well tolerated and have a relatively low incidence of adverse effects. ACE inhibitors possess ancillary characteristics that are potentially beneficial for many elderly patients, including reduction of left ventricular mass, lack of metabolic and lipid disturbances, no adverse CNS effects, no risk of induction of heart failure, and a low risk of orthostatic hypotension. Since ACE inhibitors may improve perfusion to the heart, kidney and brain, they are well worth considering for the treatment of elderly patients with hypertensive target organ damage, especially in patients with heart failure, and diabetic patients with early nephropathy.
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PMID:ACE inhibitors. Differential use in elderly patients with hypertension. 857 91

A case is described in which, after administration of diclofenac for 13 days for arthritis attributed to gout, the patient experienced erythema multiforme followed by muscle weakness, elevation of serum creatine phosphokinase (CPK) level from 101 to 83,770 U/L, 100% muscle isoenzyme, blood urea nitrogen (BUN) level from 15 to 87 mg/dL, creatinine level from 1.0 to 2.1 mg/dL and urine myoglobin level to 1,190 micrograms/dL (N < 1.2). The diagnosis was rhabdomyolysis due to diclofenac, with myoglobinuria resulting in mild renal failure. Treatment consisted of discontinuing diclofenac and administering sufficient fluids to prevent progression of myoglobinuric renal failure. Serum CPK level gradually returned to normal by day 50, BUN and creatinine levels by day 28, and muscle strength between day 90 and 180. Rhabdomyolysis due to diclofenac or to other nonsteroidal antiinflammatory drugs has not been reported.
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PMID:Case report: diclofenac-induced rhabdomyolysis. 870 74

There are relatively few reports concerning management of the musculoskeletal problems of children with renal failure. From a population group of 124 children with renal failure treated at The Children's Hospital, Camperdown, 16 were referred for management of skeletal problems. These problems included genu valgum, slipped capital femoral epiphysis, ankle valgus, procurvatum of the tibia, osteonecrosis, osteochondritis dissecans, "brown tumors," gout, and pathological fracture. The methods of management of these problems are discussed.
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PMID:Skeletal disorders in children with renal failure. 874 98

Diabetic nephropathy can be regarded mainly as a type of microangiopathy, but is a disease that may also include aspects of macroangiopathy. This is especially true of renal disease in non-insulin dependent diabetes mellitus (NIDDM), which is characterized not only by diabetic glomerulosclerosis, but also by atherosclerosis. We performed morphological studies on the kidney, using computed tomography (CT), focusing on such points as: (1) abdominal aortic calcifications at the level of kidney, (2) calcifications in the renal artery, and (3) wedge-shaped defects on the renal surface. We noted that these findings became more prominent in NIDDM patients during end-stage renal failure than during normal renal function, and were significantly more common in those two NIDDM groups than in age-matched nondiabetic patients without hypertension, hyperlipidemia or gout. NIDDM patients exhibited these features more frequently than IDDM patients.
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PMID:[Computed tomographical evaluation of diabetic nephropathy]. 875 67

Important observations have continued to expand our understanding of gout. The increased risk of gout in black Americans has been linked more closely with the development of hypertension, and an increasing prevalence in African blacks and in England may have a similar association, possibly through the use of diuretics. The association of gout and insulin resistance appears to be related to fat distribution, and the link with hyperlipidemia may be related to genetic factors. The relationship between gout and renal disease and the frequency of gout in patients with renal failure continue to be areas of controversy. The mechanism and a possible therapeutic approach to the hyperuricemia associated with cyclosporine therapy are better understood. The potential for antibodies against urate crystals to potentiate further crystallization may explain some of the uncertainties about gouty attacks. Unusual manifestations of gout, including more cases of spinal involvement, were reported. The role of formalin in dissolving urate crystals in pathologic specimens was further clarified, and the use of atomic force microscopy to detect crystals was reported. Corticosteroids are increasingly accepted in treating acute gout, and the role of colchicine in acute and intercritical gout has come under increasing scrutiny. Urate-lowering drugs appear to be cost effective in patients with more than one or two attacks per year.
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PMID:Gouty arthritis and uric acid metabolism. 879 84


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