Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The prevalence of asymptomatic hyperuricaemia among Polynesian women (Maoris, Cook Islanders, Samoans, Tongans) was high--44%. This hyperuricaemia resulted from a reduced fractional uric acid clearance (FEur: uric acid clearance factored by creatinine clearance x 100--6.7 +/- 1.5%) compared with the FEur in healthy UK women (12.8 +/- 2.9%). This reduction in FEur was not as great as that in young UK women with familial juvenile hyperuricaemic nephropathy (FJHN: 5.1 +/- 1.5%) and was not associated with impaired renal function. The FEur in the normouricaemic Polynesians (9.7 +/- 1.9%) was also lower than that in healthy UK women (12.8 +/- 2.9%). The reduced FEur in these Polynesian women supports the hypothesis that indigenous Pacific races share a similar genetic defect in renal urate handling to that reported as the basis for the susceptibility to hyperuricaemia in Maori men. Neither alcohol nor hypertension contributed to this. This study also confirmed that, compared with their European counterparts, Polynesian women have a high purine intake and a strong tendency to obesity which increases with age. These factors, together with the reduced FEur, put them at added risk for gout. However, the reduction in FEur was not as great as that reported for the normouricaemic or asymptomatic hyperuricaemic Maori male (4.9 +/- 1.5% and 3.9 +/- 1.4%, respectively), confirming the same sex difference in renal urate handling in adult Polynesians as in caucasians.
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PMID:Polynesian women are also at risk for hyperuricaemia and gout because of a genetic defect in renal urate handling. 792 53

Renal disease is rare today in classic adult gout, and gout is rare in renal disease--especially in the young. Here we summarise studies in 158 patients from 31 kindreds diagnosed with familial juvenile hyperuricaemic nephropathy FJHN from a total of 230 kindred members studied in Great Britain. Some patients have been followed for up to 30 years, and allopurinol has ameliorated the progression of the renal disease in all 113 surviving members provided: They have been diagnosed and treated sufficiently early. Compliance with allopurinol treatment and diet has been as important as early recognition. Hypertension has been rigorously controlled. The use of oral contraceptives has been avoided, as has pregnancy in any female with a Glomelar Filtration Rate GFR <70 ml/min. The question arising is: Why is FJHN the most prevalent genetic purine disorder diagnosed in Britain? Is it a lack of awareness which needs to be improved Europe-wide?
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PMID:Familial juvenile hyperuricaemic nephropathy is not such a rare genetic metabolic purine disease in Britain. 1706 66

Since 1993 we have studied 5 Spanish families with familial nephropathy associated with hyperuricemia (FJHN). Among these families, 24 patients have been identified. All patients had some combination of hyperuricemia, gout, renal insufficiency, arterial hypertension, and reduced kidney size. The clinical presentation in the different families and in the members of the same family was heterogeneous. Allopurinol treatment did not appear to influence renal disease. From a clinical perspective, this syndrome is a distinctive interstitial nephropathy, inherited as an autosomal dominant trait, that progresses to renal failure and is not halted nor prevented by allopurinol therapy. In 2003, genetic linkage analysis in 3 of the 5 families showed linkage of FJHN to 16p 11.2. One family was not analyzed and one family did not show linkage to this region confirming the genetic heterogeneity of this syndrome. A mutation in UMOD gene was found in these 3 families as the cause of the FJHN. The mutations cluster in exon 4 and exon 5 and were point mutation that results in an amino acid change in the uromodulin or Tamm Horsfall protein. This fact allowed in 2004, the presymptomatic genetic diagnosis of an 8-years-old boy belonging to one of these 3 Spanish families. We conclude that in families with a history of renal failure and/or gout in which FJHN is suspected, UMOD mutation screening may enable a definite diagnosis. When a mutation is found, family members can be tested for a UMOD mutation and pre-symptomatic diagnosis may allow counseling to prevent or halt the progression to renal insufficiency.
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PMID:Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation. 1706 10