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)

We undertook a prospective study of 23 male patients with Ankylosing Spondylitis (AS) (New York Criteria), 18 HLA-B27 positive and 5 HLA-B27 negative, five of them had hyperuricemia. The following data of evolution were taken into consideration: age at onset of disease, time course of the disease, presence of urolithiasis, heart disease, flares of uveitis. Clinical activity and degree of disability were evaluated every one to 3 months; on each visit, every patient had determinations of serum and urinary uric acid levels, serum and phosphorus, erythrocyte sedimentation rate (ESR), serum protein electrophoresis, as well as X-ray films of the vertebral spine and pelvis. Three groups of patients were detected, all of them with equal age at onset, duration of disease, frequency of B27, peripheral arthritis, and leukocytosis. One group had hyperuricemia (5 of 23 patients, 80% of them HLA-B27 positive) and a lesser degree of clinical activity of the disease (p less than .001, a higher frequency of uveitis (40%, lower levels of serum gammaglobulins (p less than 0.05) and ESR (p less than 0.05), a lesser degree of ankylosis of the spine, and a better functional prognosis than the other groups. Another group (8 of 23 patients, 75% of them were HLA-B27 positive) had normouricemia and hyperuricosuria, and showed a higher frequency of fever (50%), an abnormal urinalysis, and urolithiasis (25%).
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PMID:[Purine metabolism in ankylosing spondylitis: clinical study]. 260 1

Phosphorus metabolic disturbances play a great role in the occurrence of urolithiasis. This study covered 150 patients with urolithiasis to establish correlations between the frequency of histocompatibility antigens and the increase in blood and urinary phosphorus levels. The HLA antigens were identified by the routine microlymphocytotoxic method involving a histotyping serum panel. The ABO antigens and rhesus were determined by the agglutination method by using reference sera. The study revealed specific distribution of histocompatibility antigens in urolithiasis patients with disturbed phosphorus metabolism. Hyperphosphatemia correlated with the higher frequency of HLA-B35 (chi 2 = 9.89) and E/E system rhesus (chi 2 = 8.63); hyperphosphaturia showed a negative association with the HLA-A28 antigens (chi 2 = 9.7), as well as with E/e (chi 2 = 14.69) and e/e (chi 2 = 39.36) and a positive association with HLA-B13 (chi 2 = 5.98) and B35 (chi 2 = 36.58). The highest relative risk for hyperphosphatemia associated with the B27 and B35 antigens was observed with genetic predisposition, being 3.63 and 7.13, respectively. B12- and B35-positive individuals were at higher risk for hyperphosphaturia up to 11.25. There were significant differences in antigen frequency, and sex, genetic predisposition to urolithiasis, association of phosphorus metabolic disturbances with other metabolic disorders, and their effects of parathyroid lesions, etc. The findings reveal the immunogenetically induced risk for the occurrence and development of urolithiasis with disturbed phosphorus metabolism to make goal-oriented prophylactic measures.
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PMID:[The characteristics of histocompatibility antigen distribution in urolithiasis patients with a phosphorus metabolic disorder]. 794 Nov 39