ABSTRACT
The 11 beta-hydroxysteroid dehydrogenase type II enzyme (11 beta HSD2) inactivates glucocorticoids in the kidney and thus prevents glucocorticoids from occupying the non-selective mineralocorticoid receptor in epithelial tissues. Mutations in the HSD11B2 gene have been found to cause the syndrome of apparent mineralocorticoid excess, a rare autosomal recessive disease characterized by severe hypertension. Thus, this locus could also be an ideal candidate involved in the etiology of primary hypertension. We identified a polymorphism in exon 3 characterized by a GAG to GAA transition at codon 178, with the loss of an Alu I restriction site and analysed it in an association study using end-stage renal disease patients, diabetic or essential hypertensive patients and control subjects. Two-hundred and eighty nine subjects and patients were analysed; the genotype was determined by amplification of genomic DNA and subsequent digestion with Alu I restriction enzyme. The prevalence of the Alu I allele was 8.6% in healthy control subjects (n = 116). This prevalence was lower (chi 2 P = 0.035 vs. controls) than the 18.0% in a group of renal transplant patients (n = 61). The corresponding values for patients with diabetes mellitus (n = 25), hypertension (n = 41) and patients on dialysis (n = 46) were 4.0%, 4.8% and 4.3%, respectively. There was no correlation between blood pressure and the marker in non-ESRD subjects. These data indicate the presence of a polymorphic marker in exon 3 of the HSD11B2 gene; this marker is associated with end-stage renal disease but not with essential hypertension in humans.
Subject(s)
Deoxyribonucleases, Type II Site-Specific/metabolism , Hydroxysteroid Dehydrogenases/genetics , Isoenzymes/genetics , Polymorphism, Restriction Fragment Length , 11-beta-Hydroxysteroid Dehydrogenases , Adult , Aged , Base Sequence , Codon , Diabetes Mellitus/enzymology , Exons , Female , Humans , Hypertension/enzymology , Kidney Failure, Chronic/enzymology , Kidney Transplantation , Male , Middle Aged , Polymerase Chain ReactionABSTRACT
In a randomized series of patients who underwent gynaecological operations, the prophylactic effect on thrombophlebitis of low dose Heparin was compared to that of oral anti-coagulants. One group (n = 221) received Heparin (Liquemin Roche) subcutaneously in a dosage of 5000 units 2 hours pre-operatively and every 12 hours until the eighth post-operative day. The control group (n = 237) continued to receive the conventional prophylactic medication with Sintrom by mouth from the second post-operative day to complete ambulation keeping the quick test between 20 and 30%. The two groups were more or less identical regarding several risk factors and the following results were obtained: 1. The number of cases of deep thrombophlebitis diagnosed by the I-125-Fibrinogen test was significantly less in the group receiving Heparin than in the group receiving Sintrom. Clinical examination showed the same correlation but only detected 30% of all cases of deep thrombophlebitis. 2. The clinical suspicion of pulmonary embolism was more frequent in the group of patients receiving low dosage Heparin. Most of the symptoms were mild and none of the patients died. 3. During the anti-coagulant treatment the incidence of secondary bleeding was the same in both groups. The prevention of deep thrombophlebitis by low dosage Heparin is a very effective and simple method with few side effects and is superior to the post-operative prophylaxis with oral anti-coagulants.
