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Two patients with typical Gitelman syndrome were diagnosed by gene and their clinical data and endocrine and metabolic status were evaluated.The etiology,clinical manifestation,laboratory findings,genetic diagnosis,and treatment for Gitelman syndrome were reviewed.
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Objective To investigate the distribution of alpha2-HS glycoprotein (AHSG) gene polymorphisms and the relationships of AHSG gene polymorphisms with atherosclerosis as well as serum bone related biochemical mark-era. Methods Blood samples of 344 hospitalized female patients, aged 20 ～ 80 years, were sampled for serum bone alkaline phosphatase, cross-linked N-telopeptide of collagen type Ⅰ, cross-linked C-telopeptide of collagen type Ⅰ , osteoprotegrin and leptin were determined by ELISA. Serum TC,TG and calcium content were detected. Poly-morphism of AHSG gene was detected by polymerase chain reaction fragment length polymorphisms (PCR-RFLP) of restriction enzyme Sac Ⅰ. BMD (Norland XR-36) of the anteroposterior spine (AP), supine lateral spine (Lat) and femoral neck (FN) were measured. Morphological changes in the aorta and bone of type GG patient were detected by pathological microscopy. IMT were measured by color doppler ultrasound equipment(SEQUOIAS12). Results (1) The genotype frequency of CC, CG, and GG were 59.7%, 25.1% and 15.2% respectively in all elderly female patients. There were significant difference in blood lipids, Ca~(2+) and serum bone relative biochemical markers to different AHSG genotypes. (2)There were significant differences in the BMD of the AP, Lat, FN and IMT and the serum biochemical markers among the CC, CG and GG genotypes. (3)GG-female patients bone tissue pathology section verify the AHSG polymorphism genetic mutation and atherosclerosis, osteoporosis development of the relationship. Conclusion There was close relationship among AHSG polymorphism variation and the incidence of arteriosclerosis and osteoporosis in elderly female.
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Objective To investigate the distribution of alpha2-HS glycoprotein(AHSG) gene polymorphisms and the relationships of AHSG gene polymorphisms with atherosclerosis as well as serum bone related biochemical markers.Methods Blood samples of 344 hospitalized female patients,aged 20～80 years,were sampled for serum bone alkaline phosphatase,cross-linked N-telopeptide of collagen typeⅠ,cross-linked C-telopeptide of collagen type Ⅰ,osteoprotegrin and leptin were determined by ELISA.Serum TC,TG and calcium content were detected.Polymorphism of AHSG gene was detected by polymerase chain reaction fragment length polymorphisms(PCR-RFLP) of restriction enzyme Sac Ⅰ.BMD(Norland XR-36) of the anteroposterior spine(AP),supine lateral spine(Lat) and femoral neck(FN) were measured.Morphological changes in the aorta and bone of type GG patient were detected by pathological microscopy.IMT were measured by color doppler ultrasound equipment(SEQUOIA512).Results(1) The genotype frequency of CC,CG,and GG were 59.7%,25.1% and 15.2% respectively in all elderly female patients.There were significant difference in blood lipids,Ca2+ and serum bone relative biochemical markers to different AHSG genotypes.(2)There were significant differences in the BMD of the AP,Lat,FN and IMT and the serum biochemical markers among the CC,CG and GG genotypes.(3)GG-female patients bone tissue pathology section verify the AHSG polymorphism genetic mutation and atherosclerosis,osteoporosis development of the relationship.Conclusion There was close relationship among AHSG polymorphism variation and the incidence of arteriosclerosis and osteoporosis in elderly female.
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Objective To investigate the changes between type 2 diabetes mellitus(T2DM) with peripheral vessel disease and osteoporosis. Methods A total of 100 cases T2DM patients were divided into non-peripheral vessel disease (A group) and peripheral vessel disease (B group). B-mode ultrasonography to measure the intima-media thickness(IMT) of carotid artery,dual energy X-ray absorptiometry (DEXA) to measured bone mineral density(BMD) and VS-1000 arteriosclerosis diagnometer to measure brachi-ankle pulse wave velocity (baPWV) were used in 100 T2DM patients. The clinical data and BMD were compared between two groups. Results Compared with normal group,the BMD in T2DM patients significantly decreased.Compared with T2DM patients without peripheral vessel disease,the BMD decreased in T2DM patients with peripheral vessel disease. Conclusions Atherosclerosis in T2DM with peripheral vessel disease is probably related to osteoporosis, and the relationship between them is worth further investigation.
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Objective To evaluate the prevalence and risk factors of peripheral arterial obstructive disease(PAD) in type 2 diabetes mellitus(T2DM) patients. Methods A total of 401 patients with T2DM(201 men and 200 women),mean aged was(63.4?8.8)years.PAD was diagnosed by an ankle-brachial index(ABI)≤0.9 on either leg.Results Overall prevalence of PAD was 19.4%,without significant sexual difference.Univariate analyses disclosed age,hypertension,systolic blood pressure(SBP),low dense lipoprotein cholesterol(LDL-C) and T2DM duration as significant risk factors.In multiple Logistic regression,age,SBP,LDL-C and T2DM duration were independent risk factors with respective odds ratios(95% confidence intervals,CI) of 1.94(1.20-2.60),1.12(0.88-1.43),1.32(0.97-1.63) and 1.27(0.96-1.73) respectively.Conclusions Prevalence of PAD in T2DM patients is(19.4)% and the major risk factors were older age,higher SBP,higher LDL-C and T2DM duration.This implies that it is very important to prevent the incidence of PAD for better glucose,lipid and blood pressure control early.