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

Kelley-Seegmiller syndrome (KSS) is a disorder that occurs when there is a partial deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase. It is involved in the metabolism of purines, clinically manifesting as hyperuricemia, hyperuricosuria, gout arthritis, and urolithiasis. The aim of this article is to present the case of a 33-year-old male with KSS, with left ureteral colic, and a 5-mm, 323-HU ureteral calculi, successfully managed with conservative management. It is critical to recognize that most urologists are not familiar with this inborn metabolic error and 75% of these patients will be affected by urolithiasis, thus making it a very critical and significant disease in our practice.
 ...
PMID:Kelley-Seegmiller Syndrome: Urolithiasis, Renal Uric Acid Deposits, and Gout: What is the Role of the Urologist? 3038 79

Hyperuricemia, i.e. increased serum uric acid (UA) concentration, is a common problem in clinical practice. While there are clear guidelines concerning management of symptomatic hyperuricemia in acute conditions such as gout, urolithiasis or acute urate nephropathy, less is known about their secondary prevention. Moreover, despite the ongoing debate on the role of UA in the pathogenesis of chronic kidney disease, hypertension, cardiovascular disease and heart failure, the management of asymptomatic hyperuricemia in patients with these chronic conditions is still mainly up to physicians' judgement. Individual considerations should always be taken into account when prescribing urate-lowering therapy. In this narrative review study, we attempt to present current trends concerning treatment of patients with either symptomatic or asymptomatic hyperuricemia in the light of the available knowledge on the role of hyperuricemia in the development of gout, renal, cardiovascular and other diseases.
 ...
PMID:Pathophysiology of hyperuricemia and its clinical significance - a narrative review. 3322 90


<< Previous 1 2 3 4 5 6 7