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)

Evidence favoring genetic predisposition to each of the major classes of rheumatic diseases is reviewed, including juvenile-onset rheumatoid arthritis, rheumatic fever, ankylosing spondylitis and other syndromes associated with spondylitis, adult-onset rheumatoid arthritis, gout and pseudogout, and systemic lupus erythematosus. In addition, simply inherited genetic diseases that may present with arthritis are noted for purposes of differential diagnosis. The importance of heterogeneous causes and mechanisms within each major class of disease is emphasized, both for patient care and for clinical investigation.
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PMID:Genetics of rheumatic diseases. 40 Aug 31

Several points may be stressed. (1)When in doubt, perform joint aspiration and look for crystals of micro-organisms. A joint tap is nearly always indicated. (2)Do not rely on a coincidental elevated serum uric acid level. Question the patient regarding drug therapy and other causes of secondary hyperuricemia. (3)Examine all of the patient, looking for tophi (gout), skin lesions (gonococcal infection, psoriasis), erythema nodosum (allergic reactions, fungal infections), and other clues. (4)Monoarticular rheumatoid arthritis is a rare cause of a single hot joint, but it is much more common that the real rarities (e.g., pigmented willondular synovitis). (5)Anky-losing spondylitis and Reiter's syndrome are common, yet frequently overlooked. (6)Radiologic examination is usually not helpful. (7)Having ruled out infection, crystal synovitis, and hemorrhage, it is sufficient to introduce symptomatic treatment and await the natural development of the joint disease. Follow-up in four to six weeks and simple blood studies often reveal the definitive diagnosis. Most of the time, natural healing processes are effective , and reward the patience of the conservative physician. Blind management must always be avoided.
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PMID:The single hot joint. 97 58

We report on a 43-year-old patient with short stature (hyposomia), allegedly the result of vitamin-D-resistant rickets, previously treated for ankylosing spondylitis. In addition, a uricostatic drug therapy was also necessary because of hyperuricemia with gout attacks. Further examinations revealed the accurate diagnosis: Rathbun's disease. Hypophosphatasia is a hereditary disorder characterized by a deficiency of liver/bone/kidney alkaline phosphatase activity in serum and tissues with defective bone mineralization, bone deformities, short stature, early loss of teeth, and craniosynostosis. In our patient radiographic features were spinal hyperostosis, but with syndesmophytes, chondrocalcinosis of peripheral joints and intervertebral discs, calcific periarthritis and premature closure of skull sutures. Curved ribs and short stature were suggestive of rickets. The aim of this case report is to demonstrate the close relations between hypophosphatasia and spondylitis ankylosans in respect to radiology and clinical symptoms.
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PMID:[Rathbun syndrome (hypophosphatasia). Clinical aspects: dwarfism and Bechterew symptoms]. 179 58

First degree relatives and spouses of 36 patients with systemic lupus erythematosus (SLE) and 37 with discoid lupus erythematosus (LE) were assessed using the ARA criteria. They were compared with relatives and spouses of patients with other rheumatic and related complaints. Definite SLE was present in 3.9% of relatives of SLE probands, 2.6% of discoid relatives and 0.3% of controls. Discoid LE was diagnosed in 0.6% of SLE and 3.5% of discoid families compared with 0.5% of controls. None of the spouses of LE probands had SLE or discoid LE. The data gave the best fit for a polygenic inheritance with a heritability of 66 +/- 11% for SLE and 44 +/- 10% for discoid LE. Genetic factors are thus less important in SLE and discoid LE than in generalized osteoarthritis, spondylitis or gout with heritabilities of 90, 72 and 90%, respectively.
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PMID:A family survey of lupus erythematosus. 1. Heritability. 343 May 20

A review of 290 patients with Paget's disease of bone revealed 83% had one or more rheumatic syndromes. The most common finding was back pain (37%), most often related to an independent osteoarthritic process or Paget's disease precipitating or complicating spinal osteoarthritis. Paget's disease as a sole source of back pain was distinctly uncommon (2%). Osteoarthritis related to Paget's disease was present in the hip (30%) and knee (11%). Paget's disease in spondylitis was present in 4 patients and in ankylosing hyperostosis in 4 patients. The latter group had very active Paget's disease. Rheumatoid arthritis (1%), hyperuricemia (20%), and gout (4%) did not appear increased in this group.
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PMID:Musculoskeletal manifestations of Paget's disease of bone. 644 3

During a 6-month period in 1994-1995, 0.7% of patient visits (51 visits of 47 patients) at the emergency unit of the Department of Medicine, Helsinki University Central Hospital, were due to joint symptoms. Infection seemed to play an important role as the etiologic factor for the joint complaints. Acute joint exacerbation in pre-existing arthritis was the reason for 11.7%, and suspected Baker's cyst for 3.9% of the visits. Confirmed (12.8%) or suspected reactive arthritis (10.6%), septic arthritis/spondylitis (6.4%), arthritis with inflammatory bowel disease (6.4%), and gout (14.9%) were the most common final diagnoses for the patients. In a quarter of the patients, the etiology for joint symptoms could not be confirmed. In conclusion, joint symptoms very seldom lead to visits to an emergency unit. In such cases, infection seems to be an important contributing factor. Patients with chronic rheumatic diseases only occasionally have to seek help at an emergency unit.
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PMID:Arthritis patient as an emergency case at a university hospital. 905 99

Many musculoskeletal complaints are accompanied by classic signs and symptoms that can be readily diagnosed by the primary care physician. Others are much less obvious and present a diagnostic challenge. In the office evaluation of patients with musculoskeletal complaints, the history is the most informative element. Least helpful are laboratory tests. Although erythrocyte sedimentation rate (ESR), rheumatoid factor, and other widely available tests are sensitive to the presence of rheumatic diseases, they are not specific for any of them. In the initial office evaluation, helpful points of differentiation include the number of joints involved, their location, and, when multiple joints are involved, whether they are symmetric or asymmetric. An acute monarthritis is associated mainly with trauma, infection, or a crystal-induced synovitis such as gout or pseudogout. Patients with polyarthritis may have symptoms that come and go very quickly, sometimes in < 24-36 hours. This migratory pattern characterizes diseases such as gonococcal arthritis, viral disease, and sarcoidosis. "Rheumatoid variants" such as Reiter's syndrome, psoriatic arthritis, and spondylitis may affect no more than a few joints and are accompanied by other signs, such as nail and skin lesions (psoriasis) or urogenital and enteric infections (Reiter's). Like erosive osteoarthritis, the rheumatoid variants may also cause swelling and inflammation of the distal interphalangeal joints. The classic example of symmetric joint disease is rheumatoid arthritis (RA). While RA often occurs in a progressive and additive pattern, its onset may be followed by a remission several months later. Patients who present with the "algias" may have no physical signs but manifest extensive musculoskeletal pain. Fibromyalgia occurs typically in younger women; polymyalgia rheumatica rarely occurs in patients < 50 years of age and is usually accompanied by a strikingly high ESR. Age and gender should be noted in the office evaluation because they can provide clues not only to these "algias," but other rheumatic diseases seen more frequently in one age or gender group than another.
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PMID:Office evaluation of the patient with musculoskeletal complaints. 921 53

The adrenal cortical hormone, cortisone, and the pituitary adrenocorticotropic hormone (ACTH) possess potent antirheumatic properties. Their administration produces strikingly beneficial effects on a number of rheumatic diseases including rheumatoid arthritis, rheumatoid (ankylosing) spondylitis, acute rheumatic fever, disseminated lupus erythematosus, periarteritis nodosa, psoriatic arthritis, dermatomyositis, and gout. In general the effects of these substances are temporary and they cause suppression rather than cure of the disease processes. Improvement is maintained usually only by continuing administration, and on hormonal withdrawal prompt or fairly prompt relapse of the disease manifestations ensues. In addition to their antirheumatic effects cortisone and ACTH influence a wide variety of physiologic functions. Administration of them therefore may produce a number of metabolic and clinical changes, some of which are not advantageous from a therapeutic standpoint. Adverse side-reactions are more liable to occur when large doses of the hormones are given for prolonged periods; such reactions appear to be reversible and disappear when administration of the hormones is stopped. With cortisone, comparatively few untoward signs develop when smaller amounts are administered continuously even for periods of months. Greater clinical experience is needed before optimal doses and schedules of administration are finally determined. It appears that some severe cases, many moderately severe cases, and most moderate and mild cases of rheumatoid arthritis may be adequately controlled with smaller "maintenance" doses of cortisone ranging from 32 to 65 mg. a day, providing larger doses to suppress the disease manifestations are employed initially. Neither cortisone nor ACTH should be considered as a therapeutic agent for general use until more information regarding their physiologic activities and the consequences of prolonged or repeated administration of them are available. Until the potential dangers of these hormones can be determined precisely, the use of them should be considered as an investigative procedure.
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PMID:The effects of cortisone and adrenocorticotropic hormone (ACTH) on certain rheumatic diseases. 1541 40

Discitis/ Osteomyelitis is an inflammatory process involving an intervertebral disc and the adjacent vertebral bodies. Infection is the most common cause of discitis, which is often spontaneous and hematogenous in origin. However, many noninfectious processes affecting the spine such as pseudarthrosis in ankylosing spondylitis, amyloidosis, destructive spondyloarthropathy of hemodialysis, Modic changes type 1, neuropathic arthropathy, calcium pyrophosphate dehydrate (CPPD) spondyloarthropathy and gout can mimic infectious discitis/ osteomyelitis. To determine whether a particular patient's spinal process is due to an infectious versus non-infectious cause can be challenging. Although clinical findings and laboratory studies including erythrocyte sedimentation rate (ESR) or C-reactive protein (CRP) can be helpful in the diagnosis of bacterial discitis/osteomyelitis due to their high sensitivity; however, their specificity is low. Moreover, both the infectious and non-infectious discitis can appear quite similar on the imaging studies. We present two cases of thoracic discitis with adjacent vertebral osteomyelitis of probable non-infectious etiology. Both were managed with instrumented fusion for stabilization. We also discuss a range of noninfectious causes of discitis/spondylitis and their radiological features which can help differentiate from infectious processes.
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PMID:Non-infectious thoracic discitis: A diagnostic and management dilemma. A report of two cases with review of the literature. 3193 36

This review is devoted to rheumatologic diseases mainly characterized by different types of arthritis. They may involve also different organs, including the kidney, but renal disease is more frequently caused by the nephrotoxicity of drugs to relieve pain or to interfere with the pathophysiology of the underlying disease. Rheumatoid arthritis is the prototype of arthropathies. This autoimmune disease mainly attacks joints, tendons and ligaments but can also involve internal organs including the kidney. Psoriatic arthritis is a complex disease in which psoriasis, a chronic inflammatory disease, is associated with the development of peripheral arthritis or spondylitis. The disease or its treatment may lead to kidney complications. Gout is a form of inflammatory arthritis which is characterized by an increase in the serum uric acid deposits in and around the joints of the extremities, the so called tophi. The disease is often associated with a metabolic syndrome with diabetes, obesity, hypertension, and cardiovascular disease. Kidney injury is frequent. It may be caused by kidney stones, urinary tract obstruction, tubulointerstitial and vascular lesions leading to CKD and renal failure.
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PMID:Renal disorders in rheumatologic diseases: the spectrum is changing (part 2. Arthridides). 3254 73


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