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)

25 patients with hypothyroidism and 100 patients with hyperthyroidism were anamnestically, clinically, serologically and radiologically examined for the presence of a para- or pseudorheumatic symptomatology. The evaluation was carried out in comparison to the control groups of the same sex and age distribution. In nearly half the cases in hypothyroidism a symptomatology with polyarthralgias, myalgias, weakness of the muscles, acroparaesthesias, rigidity, swelling of the fingers and thickenings of the synovial membrane which are to be classified as "myxoedematous pseudorheumatism" stood in the foreground, which for the largest part were concomitant with a polyarthrosis. Furthermore a syntropy with the cervicobrachial syndrome, the humeroscapular periarthritis, calcifications of bursa and insertions of the sinews, the gout and the carpal tunnel syndrome were found. In the not infrequently prevailing pararheumatic symptomatology differential-diagnostic difficulties may develop within the total clinical picture. The patients with hyperthyroidism showed a symptomatology of the joints and tissues of the upper extremities which above all had the character of trifles.
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PMID:[The pararheumatic syndrome in thyroid diseases]. 30 81

We report a case of myopathy induced by daily administration of colchicine. A 65-year-old man with gout and renal dysfunction had taken 1 mg of colchicine daily for 3 years. The dose was raised to 2 mg per day and two months later, he developed progressive weakness of the proximal limbs and had difficulty in rising from squatting and climbing stairs. Five months after the development of weakness, neurological examination showed proximal muscle weakness without wasting, generalized hyporeflexia and mild sensory loss and dysesthesia of the toes. Serum creatine kinase level was elevated to 788 IU/L and creatinine level was 2.1 mg/dl. Electromyography demonstrated myogenic changes with spontaneous activity. HE preparations of biceps muscle biopsy showed mild increase of variation in fiber size, small vacuoles with and without basophilic rims in some fibers and a few fibers with unevenly stained sarcoplasm. NADH-TR preparations showed numerous moth-eaten and targetoid fibers. The small rimmed vacuoles stained positively for acid phosphatase. Electron microscopy showed accumulation of lysosomes and autophagic vacuoles, and architectural changes and disruptions of myofibrils. After the discontinuation of colchicine, his strength and serum CK level normalized within two masquerading as polymyositis, may occur when customary doses of colchicine are given daily to patients with renal dysfunction.
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PMID:[Chronic human colchicine myopathy]. 226 97

Although colchicine has been used for centuries, its neuromuscular toxicity in humans is largely unrecognized. In this report we describe a characteristic syndrome of myopathy and neuropathy and present 12 new cases of the condition. Colchicine myopathy may occur in patients with gout who take customary doses of the drug but who have elevated plasma drug levels because of altered renal function. It usually presents with proximal weakness and always presents with elevation of serum creatine kinase; both features remit within three to four weeks after the drug is discontinued. The accompanying axonal polyneuropathy is mild and resolves slowly. Electromyography of proximal muscles shows a myopathy that is marked by abnormal spontaneous activity. Because of these features, colchicine myoneuropathy is usually misdiagnosed initially, either as probable polymyositis or as uremic neuropathy. The myopathy is vacuolar, marked by accumulation of lysosomes and autophagic vacuoles unrelated to necrosis or to the mild denervation in distal muscles. The morphologic changes in muscle suggest that the pathogenesis involves disruption of a microtubule-dependent cytoskeletal network that interacts with lysosomes. Correct diagnosis may save patients with this disorder from inappropriate therapy.
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PMID:Colchicine myopathy and neuropathy. 303 72

The clinical features and biochemical profile of 10 patients with Renal Tubular Acidosis (RTA) were described. The commonest mode of presentation was muscular weakness due to severe hypokalaemia in 5 patients while the other 5 presented with renal colic, haematuria or passage of gravel. Nine patients had nephrocalcinosis on X-rays and one had rickets. All the patients had Type I RTA, 2 of whom presenting initially with Incomplete Type I RTA which progressed to Complete Type I RTA. Two other patients had associated features of proximal tubular involvement evidenced by hypophosphatemia, hypouricemia, hyperphosphaturia, aminoaciduria and glycosuria. Six of the 10 patients had secondary RTA: 2 associated with medullary sponge kidneys, 2 with gout, 1 with idiopathic hypercalciuria and hyperuricosuria and the remaining patient with systemic lupus erythematosus.
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PMID:Renal tubular acidosis. 370 33

A 77-year-old woman complained of numbness in her hands and feet, progressive unsteadiness, weakness, and loss of proprioception of six months' duration. A myelogram revealed stenosis of the spinal canal at the levels of C2-3, T6-7, L2-3, and L3-4. On computerized tomography scan, a large dorsal, epidural, soft tissue mass and focal calcification of the ligamentum flavum were seen at C3. Laboratory studies ruled out gout, collagen disease, vitamin B12 deficiency, syphilis, parathyroid, and thyroid disease. At decompressive laminectomy, a nodular mass in the ligamentum flavum (C2-4) was found and removed. Three months after operation, the neurologic symptoms had improved. Histologic examination of the elastic ligament revealed deposits of birefringent crystals, which were identified by X-ray diffraction as calcium pyrophosphate dihydrate (CCPD). Only about six cases of myelopathy attributable to deposits of CPPD appear to have been previously reported.
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PMID:Cervical myelopathy attributable to pseudogout. Case report with radiologic, histologic, and crystallographic observations. 379 45

Salt poisoning developed in captive sandhill cranes (Grus canadensis) when sea salt was added to normal drinking water to produce a sodium chloride concentration of 1%. Two of 18 cranes died and 2 were euthanatized when moribund. Muscle weakness, paresis, dyspnea, and depression were observed. Brain and serum sodium, serum uric acid, and plasma osmolality values were abnormally high. Lesions were those of visceral gout, renal tubular necrosis, nephrosis, and skeletal muscle necrosis.
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PMID:Iatrogenic salt poisoning in captive sandhill cranes. 732 5

The presented case concerns a 77-year old man who had been chronically taking colchicine for treatment of gout. He was admitted because of a transient ischemic cerebrovascular attack with motor aphasia and complained of preexisting paraesthesias in the lower extremities. Neurological examination revealed a global muscular weakness, absent myotatic reflexes and a diminished sensation. Serum creatine kinase (CK) levels were increased and electromyography showed spontaneous fibrillations in deltoid muscles, positive spikewaves in deltoids and anterior tibial muscles. Motor and sensory conduction velocities were mildly reduced. Nerve biopsy findings were compatible with a chronic axonal neuropathy having produced a significant loss of myelinated axons and also denervation features of unmyelinated axons. In muscle, combined neurogenic and myogenic features were found. The former result from the axonal neuropathy. The latter were mainly characterized by focal myofibrillar disorganisation and accumulation of autophagic vacuoles in muscle fibres. The presented neuromuscular symptoms and signs, the increased CK values, the electromyographic and nerve conduction velocity findings as well as nerve and muscle biopsy observations, are consistent with the diagnosis of colchicine-induced myopathy and neuropathy. Furthermore, the disappearance of paraesthesias, normalisation of CK values, and disappearance of fibrillations and positive spike waves in deltoid and anterior tibial muscles on electromyography, after stopping of the colchicine therapy, supported the diagnosis.
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PMID:Chronic colchicine-induced myopathy and neuropathy. 772 94

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

The elevation of serum urate levels in patients with Down syndrome has been reported by several investigators, but gout or renal dysfunction due to hyperuricemia has rarely been encountered. We described a case of Down syndrome showing chronic renal failure caused by long-term asymptomatic hyperuricemia. A 30-year-old man, who had persistent subclinical hyperuricemia for nine years, was noted to have pale face, weakness and hypertension. Laboratory findings revealed acute renal dysfunction. He died from uremic lung 7 months later. Autopsy disclosed a finding suggesting chronic urate nephropathy; many gouty microtophi with foreign body reaction in the renal medulla. It is important to estimate serum urate and to control increased serum urate level in order to prevent from renal dysfunction in Down syndrome.
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PMID:[A case of Down syndrome with chronic renal failure caused by long-term asymptomatic hyperuricemia]. 833 99

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


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