Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Efficacy and safety of endoscopic contact electroimpulse lithotripsy (EILT) were studied in 146 patients with urolithiasis (mean age 48+/-16 years). Of them, 10 (7%) had ureteropelvic (UP) concrements, 124 (85%) had ureteroliths and 12 (8%) had bladder stones. The impulses were generated by the electroimpulse lithotripter Urolit-105M (Lithotech Medical, Israel; MedLine, Russia). EILT produced a complete destruction of UP concrements, ureteroliths and bladder stones in 96% cases. Complications occurred in 8.2% cases. The risk of intraoperative EILT complications was higher in destruction of stones more than 8 mm in the largest parameter of size, long-standing ureteral concrements complicated by ureteritis. EILT of UP concrements must be conducted by means of single impulses (impulse energy 0.45 J), of ureteroliths--by single or paired impulses (impulse energy 0.45-0.6 J), of bladder stones--by paired or serial impulses (impulse energy 0.6-0.7 J).
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PMID:[Contact electroimpulse lithotripsy]. 1953 Mar 26

Gout recently passed rheumatoid arthritis to become the most common inflammatory arthritis in the United States (US). However, epidemiologic studies indicate that the quality of gout management is suboptimal owing to both patient and physician issues. Only three options for urate-lowering therapy are currently available in the US: allopurinol, probenecid, and recently, febuxostat. Probenecid is generally safe except for the occurrence of urolithiasis, but is only effective for the subset of patients with better kidney function. Allopurinol use is limited due to its side effects, potential toxicity of uncertain magnitude in patients with renal disease, and failure to achieve targeted serum urate levels. In part this failure may be due to the necessity for it to be titrated for optimal therapeutic effect. Febuxostat is a new medication that may offer several advantages and can be given as an alternative to allopurinol. We review the basic biology and clinical performance of febuxostat, and consider the potential utility of this agent in comparison to the older, better-established gout therapeutics.
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PMID:Advances in the management of gout: critical appraisal of febuxostat in the control of hyperuricemia. 2169 22

Gout is a chronic inflammatory condition that is increasing in prevalence and commonly associated with other chronic diseases such as obesity, diabetes mellitus, hypertension, hypercholesterolemia, chronic kidney disease, cardiovascular disease, and thromboembolic disorders. These associations make the management of patients with gout more complex. Although identification of MSU crystals in synovial fluid is diagnostic, a presumptive diagnosis of gout can be made clinically based on the presence of hyperuricemia, rapid development of pain, tenderness, and swelling in a single toe (male) or elbow or finger joint (female), and family history. Gout is increasingly recognized as a heterogeneous disease requiring individualized treatment. A healthy lifestyle is always recommended and patient education is critical to support self-management and long-term adherence. Antiinflammatory therapy, typically colchicine or an NSAID, is recommended for management of an acute gout flare, while ULT may be used in patients with frequent or severe acute gout, tophi, urolithiasis, renal function impairment, or other complications of gout. Allopurinol is first-line ULT for most patients, although febuxostat and probenecid are effective options and pegloticase is useful in selected patients. New medications, such as lesinurad, are on the horizon.
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PMID:Hot Topics in Primary Care: Update on the Recognition and Management of Gout: More Than the Great Toe. 2684 10

Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder of uric acid metabolism that leads to formation and excretion of 2,8-dihydroxyadenine into urine. The low solubility of 2,8-dihydroxyadenine results in precipitation and formation of urinary crystals and renal stones. Patients with this disorder usually have recurrent nephrolithiasis and can develop nephropathy secondary to crystal precipitation in the renal parenchyma. The disease is most often underdiagnosed and can recur in renal transplant, causing graft failure. Lack of specific clinical manifestations, chemical and radiologic features identical to those shown with uric acid stones, and lack of awareness among clinicians are among the causes for the underdiagnoses of this treatable disease. Allopurinol, a xanthine dehydrogenase inhibitor, is the mainstay of treatment, supported by high fluid intake and dietary modifications. The possibility of adenine phosphoribosyl transferase deficiency should be considered in all cases of urolithiasis in children, patients with recurrent urolithiasis, and patients with urolithiasis associated with renal failure of unknown cause, including patients with end-stage renal disease and renal transplant recipients. Here, we report a case of a 41-year-old female patient who had a late diagnosis of 2,8-dihydroxyadenine nephropathy-induced end-stage renal disease, made on the native nephrectomy that accompanied the renal transplant, and who had a timely intervention that prevented recurrence in the graft.
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PMID:2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant. 2744 13

Gout is caused by monosodium urate crystal deposition in joints and tissues. Risk factors include male sex; obesity; hypertension; alcohol intake; diuretic use; a diet rich in meat and seafood; chronic kidney disease; a diet heavy in fructose-rich food and beverages; being a member of certain ethnic groups, including Taiwanese, Pacific Islander, and New Zealand Maori; and living in high-income countries. Gout is characterized by swelling, pain, or tenderness in a peripheral joint or bursa, including the development of a tophus. Diagnosis of gout can be made using several validated clinical prediction rules. Arthrocentesis should be performed when suspicion for an underlying septic joint is present; synovial fluid or tophus analysis should be performed if the diagnosis is uncertain. Colchicine, nonsteroidal anti-inflammatory drugs, and corticosteroids relieve pain in adults with acute gout episodes. Indications for long-term urate-lowering therapy include chronic kidney disease, two or more flare-ups per year, urolithiasis, the presence of tophus, chronic gouty arthritis, and joint damage. Allopurinol and febuxostat are used to prevent flare-ups, although febuxostat is associated with an increase in all-cause and cardiovascular mortality and is therefore not routinely recommended.
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PMID:Gout: Rapid Evidence Review. 3311 89


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