Association between ACE Gene Polymorphism and Nephropathy in NIDDM Patients / 대한신장학회잡지

It has been reported that the genetic susceptibility may be an important factor in the development of nephropathy in diabetic patients, and the genetic polymorphism of angiotensin-converting enzyme (ACE) has been extensively studied for its possible role. The ACE affects the cardiovascular system through angiotensin II formation and inactivation of bradykinin. The 21 kilobases-long ACE gene located on the long arm of chromosome 17 is composed of 26 exons and 25 introns. The presence/absence of a 287 base pairs fragment in the 16th intron of the ACE gene determines its genotype either as insertion(I) or deletion(D). These genotypes in turn are used to characterize the polymorphism as II, ID or DD type. Each of these genotypes has been reported to show different activity of serum ACE. Recent reports have suggested that genotype DD or D allele may be involved in the nephropathy in diabetics while genotype II may lower the chance for diabetic nephropathy. The present study investigates the effects of genetic polymorphism of ACE on the nephropathy in NIDDM by assessing ACE genotypes and activities on 148 NIDDM patients who have been diagnosed at least 10 years prior to the study, as well as 146 normal controls. The NIDDM group is composed of 70 patients with nephropathy and 78 without nephropathy. The results were as follows. 1) In the diabetic group, the absence/presence of nephropathy showed no significant difference in terms of age, gender, body mass index, HbA1C, cholesterol, triglyceride and HDL cholesterol(p>0.05). No significant differences on the clinical parameters were noted according to the ACE genotypes either(p>0.05). 2) The ratio of ACE genotypes(II:ID:DD) was 0.36:0.48:0.16 for the normal control group, 0.28:0.56: 0.16 for the NIDDM without nephropathy group, and 0.26:0.51:0.23 for the NIDDM with nephropathy group. The ratios of I and D allele were 0.60:0.40, 0.56:0.44 and 0.51:0.49, respectively. In all three groups, higher ratio I allele over D allele was noted and the ID genotype was most frequent followed by II and DD types, although the differences between the groups were not statistically significant(p>0.05). 3) In the normal controls group, ACE activities for DD, ID and II genotypes were 54.0 15.0, 40.4 12.4 and 30.1 11.8U/L, respectively, with significant difference among the genotypes. In the NIDDM without nephropathy group, there was no difference among the three genotypes(DD, ID, II; 47.2 15.1 vs. 36.6 18.7 vs. 32.0 13.4). In the NIDDM with nephropathy group, the activity for DD and ID genotypes were significantly higher than II genotype(47.7 31.0, 47.4 30.7 vs. 17.8 17.9U/L, p0.05). The results of the present study show that in the normal group genotype ID is most frequent followed by II and DD, and the I allele is more frequent than D allele. These results are similar to the reports from China and Japan, unlike the results from Europe or USA where genotype DD and D allele are more frequent than II genotype and I allele, suggesting an ethnic difference. Furthermore, the NIDDM patients group, regardless of the presence of nephropathy, showed no significant difference from the normal group in terms of ACE genotypes or allele types, suggesting lack of association between the nephropathy and the ACE gene polymorphism. The ACE activity also showed no significant relationship with various clinical parameters or complications. Further studies on the effects of ACE polymorphism and ACE activity on the progression of nephropathy may be needed.

Clinical Significances of Scrum Protein C and S in Chronic Renal Failure / 대한내과학회지

OBJECTIVES: Patients with chronic renal failure have increased hemorrhagic tendency due to an uremic platelet dysfunction and complications from anticoagulants used in hemodialysis. They are also prone to have thrombotic complications in the cerebral vessels, coronary arteries and A-V fistula, due to hypercoagulability from changes in various factors. Recently, deficiencies in plasma protein C and S, which are physiological anticoagulants, have been reported to cause thrombosis. In chronic renal failure, plasma protein C and S activities are known to be decreased. METHODS: In the present study, activities and antigen concentrations of plasma protein C and S, as well as AT-III activities were investigated in three groups; the normal control group, the predialysis group of chronic renal failure patients treated conservatively, and the hemodialysis group. The findings were analyzed for their relationship to hypercoagulability. RESULTS: 1) The activities of plasma protein C, S and antithrombin-III were significantly lower in the predialysis chronic renal failure group as compared to the control. Antithrombin-III concentrations in the hemodialysis group assayed immediately prior to dialysis were significantly lower than those of the control group. But, protein C antigen concentrations in the hemodialysis group assayed immediately prior to dialysis were significantly higher than those of the control group. There was no significant difference between these groups in plasma protein C activities, and plasma protein S activities and antigen concentrations. 2) In the hemodialysis group, antithrombin-III activities, antigen concentration and activities of plasma protein C were significantly higher than after dialysis as compared to those before the dialysis. 3) There were no significant difference in plasma protein C, S and antithrombin-III activities and plasma protein C and S antigen concentrations in hemodialysis patients between with and without thrombosis at arterio-venous fistula site. However, plasma protein C and antithrombin-III activities were significantly lower in those with thrombosis as compared to those of the normal control group. There were no significant difference in plasma protein C and S activities and antigen concentrations in those without thrombosis as compared to those of the normal control group. 4) There were no significant diffrences in plasma protein C, protein S and antithrombin-III activities and antigen concentrations in dialysis patients with and without recombinant erythropoietin treatment. 5) There were no significant correlations between serum creatinine and creatinine clearance, and plasma antithrombin-III, protein C and protein S activities and antigen concentrations in predialysis group. CONCLUSION: These results suggest that the decrease in plasma antithrombin-III, protein C and S could be the factors causing hypercoagulability in chronic renal failure patients, and the decreased activities of these factors may return to normal by dialysis. In the hemodialysis group, there were no significant diffrences in plasma protein C and S and antithrombin-III activities and antigen concentrations between the group which showed clinical thrombosis and the group which did not. However, in those who had thrombosis, plasma protein C and antithrombin-III activities are significantly lower than the control group. Administration of recombinant human erythropoietin does not appear to affect the activities of plasma protein C and S and antithrombin-III. In predialysis chronic renal failure patients, there was no significant relationship between renal function and plasma protein C and S and antithrombin-III.

Extrarenal manifestations of autosomal dominant polycystic kidney disease

Recently, with the widespread use of new imaging techniques, the diagnosis of autosomal dominant polycystic kidney disease (ADPKD) is increasing. To analyze the extrarenal manifestations of ADPKD in Korean patients, we retrospectively studied the clinical characteristics of 30 patients with ADPKD. Thirty Patients with ADPKD who had been diagnosed at Yongdong Severance Hospital from 1988 through 1994 were recruited for this study. All patients' past and family histories were re-evaluated, and charts and radiologic images were reviewed retrospectively. The male to female ratio was 9:21, and the age of initial diagnosis was 39.2 +/- 13.8 (mean +/- SD) years. In 15 cases (50%), ADPKD had been diagnosed by renal symptoms; in 8 cases (26.7%), by chance during evaluation of extrarenal diseases; in 5 cases (16.7%), by family screening; and in 2 cases (6.7%), by uremic symptoms. Extrarenal involvement included hepatic cysts (70%), pancreatic cysts (16.7%), splenic cysts (6.7%), thyroid cysts (6.7%), inguinal hernia (3.3%), and colonic diverticula (3.3%). In 5 cases (16.7%), cardiac valvular abnormalities were noted by echocardiography. Seven patients underwent hemodialysis, and the duration from the initial diagnosis to initiation of dialysis was 9.9 +/- 8.5 (mean +/- SD) years. We investigated the extrarenal manifestations of 30 cases of ADPKD in Koreans, which were also common and clinically important as renal manifestations. Renal cysts are only one of a myriad of renal and extrarenal manifestations of ADPKD. ADPKD should be managed systematically since this disorder is a systemic disease with clinically important involvement of the cardiovascular system, the gastrointestinal tract, the genitourinary system, and the musculoskeletal system.

Acute Pyelonephritis: Role of Enhanced CT Scan in the Prediction of Clinical Outcome

PURPOSE: To correlate the CT findings of acute pyelonephritis with its outcome and with clinical data. MATERIALS AND METHODS: Thirty five contrast enhanced CT scans in patients diagnosed as suffering from acute pyelonephritis were retrospectively analyzed. Findings based on the morphology of perfusion defect in the renal parenchyma were classified as normal, focal wedge, multifocal wedge, focal mass, or mixed form composed of wedge and mass. These findings were correlated with clinical data such as degree of fever, leukocytosis, the period after antibiotic treatment during which fever was reduced, and the presence of pyuria in each group Analysis was then performed. RESULTS: Perfusion defects were seen in 23 of 35 cases, and their morphology was classified as follows; focal wedge (n=2), multifocal wedge (n=8), focal mass (n=4), and mixed form (n=9). Twelve cases (34.3%) showed no perfusion defect. The duration of fever was significantly prolonged in patients with focal mass form(p<.05). There was no significant correlation between the morphology of perfusion defect, bilaterality, and other clinical factors. CONCLUSION: The present study shows that the clinical course of the focal mass form of perfusion defect, as seen on CT, is different from that of other types. CT could be effective in predicting clinical progress and the outcome of treatment in cases of acute pyelonephritis.

Open Reduction and Internal Fixation of Fractures of the Acebabulum / 대한정형외과학회잡지

Open reduction and internal fixation of the displaced fractures of the acetabulum represents one of the greatest challenge in fracture surgery. The purpose of our study is to report the results of operative treatment and establish the guideline for the operative treatment of the displaced acetabular fractures with the analysis of the clinical and radiological results. This retrospective study reports the results of 21 fractures in 21 patients(19 male and 3 female) treated by open reduction and internal fixation from January 1990 to July 1994. The patients were followed up more than 1 year and mean length of follow-up was 2.3 years. According to Letournel's classification, we had 9 elementary fractures(42.8%) and 12 associated fractures(57.2%). Among the elementary fractures, the posterior wall fracture was the most common type(7 cases, 33.3%) and the transverse-posterior wall fracture was the most common type among associated fractures(4 cases, 19.0%). Surgical approaches were 14 Kocher-Langenbeck, 6 Ilioinguinal and 1 extended iliofemoral. Indirect reduction and specially designed reduction method using C-arm and radiolucent operating table were also helpful to achieve satisfactory reduction. Overall quality of clinical results was graded according to the D'Aubigne and Postel rating score. Satisfactory reduction was gained in 16 cases(76.1%). Unsatisfactory reduction was gained in 5 cases(23.8%). Among the cases within category of satisfactory reduction, there were 7 excellent and 8 good clinical results. But among unsatisfactorily reduced 5 cases, there were 2 good clinical results. It seems that the satisfactory operative reduction of the fracture is the factor that correlates with a satisfactory clinical result. There were complications such as 3 secondary osteoarthritis(14.2%), 3 wound infection(14.2%, 2 superficial and 1 deep), 2 iatrogenic nerve palsy(9.5%, 1 sciatic and 1 obturator nerve) and 1 intrapelvic protrusion acetabuli(4.7%) and no postoperative ectopic ossification.

Studies on bone markers and bone mineral density in patients with chronicrenal failure

Renal osteodystrophy has become a frequent complication in patients with chronic renal failure (CRF), and various histologic forms such as high turnover, low turnover and mixed bone disease have been demonstrated. The only reliable method for distinguishing patients with high turnover from those with low turnover bone disease is bone histomorphometric study, but its clinical utility is restricted. Because of its invasive nature, efforts have been made to predict indirectly the type and severity of thi metabolic bone disease by serum assays. In this cross-sectional study, we measured total and regional (head, arms, trunk, ribs, legs, spine and pelvis) bone mineral densities (BMD) by dual X-ray absorptiometry (DXA) in patients with variable degrees of CRF and correlated them with various bone markers. Decreased BMDs were detected in various skeletal sites (trunk and pelvis) in the patients' group. Total BMD Z score was lower in predialysis CRF patients than in the control subjects. Decreased BMD Z scores on weight-bearing bone were pronounced at L1 lumbar vertebra, femur trochanter, femur neck and Ward's triangle. Positive linear correlations were found between creatinine clearance and trunk, ribs, pelvis, and spine BMDs. There were inverse linear correlations between total BMD and total BMD Z score and alkaline phosphatase (AP), urine deoxypyridinoline (U-DPD) in the patients' group. There were no correlations between regional and total BMD, total BMD Z score and serum calcium, ionized calcium, and serum phosphate. There were inverse linear correlations between BUN, creatinine and bone-specific alkaline phosphatase in the predialysis CRF group. We evaluated the correlations between intact parathyroid hormone (i-PTH) and biochemical and other bone markers. There was statistically significant linear correlation between i-PTH and AP. Other bone markers have no significant correlations with i-PTH. Our results demonstrated that there is significant bone loss in patients with CRF before the start of dialysis and also regional variations of BMDs in predialysis CRF patients. DXA is a useful method for evaluating regional and total BMDs and provides information about diverse regional skeletal changes. AP, i-PTH and U-DPD can predict BMD of predialysis CRF patients.

Studies on bone markers and bone mineral density in patients with chronicrenal failure

Renal osteodystrophy has become a frequent complication in patients with chronic renal failure (CRF), and various histologic forms such as high turnover, low turnover and mixed bone disease have been demonstrated. The only reliable method for distinguishing patients with high turnover from those with low turnover bone disease is bone histomorphometric study, but its clinical utility is restricted. Because of its invasive nature, efforts have been made to predict indirectly the type and severity of thi metabolic bone disease by serum assays. In this cross-sectional study, we measured total and regional (head, arms, trunk, ribs, legs, spine and pelvis) bone mineral densities (BMD) by dual X-ray absorptiometry (DXA) in patients with variable degrees of CRF and correlated them with various bone markers. Decreased BMDs were detected in various skeletal sites (trunk and pelvis) in the patients' group. Total BMD Z score was lower in predialysis CRF patients than in the control subjects. Decreased BMD Z scores on weight-bearing bone were pronounced at L1 lumbar vertebra, femur trochanter, femur neck and Ward's triangle. Positive linear correlations were found between creatinine clearance and trunk, ribs, pelvis, and spine BMDs. There were inverse linear correlations between total BMD and total BMD Z score and alkaline phosphatase (AP), urine deoxypyridinoline (U-DPD) in the patients' group. There were no correlations between regional and total BMD, total BMD Z score and serum calcium, ionized calcium, and serum phosphate. There were inverse linear correlations between BUN, creatinine and bone-specific alkaline phosphatase in the predialysis CRF group. We evaluated the correlations between intact parathyroid hormone (i-PTH) and biochemical and other bone markers. There was statistically significant linear correlation between i-PTH and AP. Other bone markers have no significant correlations with i-PTH. Our results demonstrated that there is significant bone loss in patients with CRF before the start of dialysis and also regional variations of BMDs in predialysis CRF patients. DXA is a useful method for evaluating regional and total BMDs and provides information about diverse regional skeletal changes. AP, i-PTH and U-DPD can predict BMD of predialysis CRF patients.

Clinical study on cold agglutinin disease / 대한혈액학회지

No abstract available.

One Case of Pancreas Divisum / 대한소화기내시경학회지

The pancreas is formed from dorsal and ventral parts which normally fuse in the second month of intrauterine life. Pancreas divisum occurs when the ventral and dorsal elements fail to fuse; as a result, the main bulk of the pancreas drains through the accessory papilla. It is a congenital variait of pancreatic ductal fusion and drainage anomalies. Since the accessoy papilla and Santorinis duct are too all to accept total pancreatic secretion, obstructive pain and pancreatitis may result. Between March 1983 and February 1988, 631 patients underwent endoscopic retrograde cholangiopancreatography(ERCP) in our hospital. We experiericed one case of pancreas divisum. And then, we report it with brief review of literatures.

The frequency distribution of cardiovascular diseases in 13 hospital admitted patients in Korea: Korean Society of Circulation

The frequency distribution of cardiovascular disease are changing recently due to the development of living environment. Unfortunately there are few epidemiological studies of cardiovascular diseases in general population, we tried to estimate the recent trend of cardiovascular diseases studying hospitalized patients in nationwide 13 large hospitals during a year of 1985. The hypertensive disease (24.1%) was the most common cardiovascular disease and the next were cerebrovascular disease (15.8%), arrhythmias (12.2%), ischemic heart disease (9.7%), congenital heart disease (9.1%), and rheumatic heart disease (5.4%) in order. This results showed that hypertensive disease and cerebrovascular disease are still the major cardiovascular disease and ischemic heart disease and arrhythmias are increased. But chronic rheumatic heart disease is declined compared with previous studies in hospitalized patients.

Echocardiographic Doppler Mitral Valve Flow Velocity In Hypertension

This investigation was performed to evaluate Doppler mitral valve flow velocity profiles in hypertensive heart disease for the detection of the left ventricular diastolic dysfunction which preceded the systolic dysfunction. Doppler derived parameters included; the duration of the early diastolic flow velocity peak(DF duration), the downward slope of the early diastolic flow velocity peak (EF slope) and the ratio between the height of the early and the late diastolic flow velocity peak (E-E'/A-A'). Doppler flow velocity profiles were measured in 19 normotensive subjects and 28 hypertensive patients. We found decreased EF slope in hypertensive patients (3.6+/-1.4./sec) in comparison with normotensive subjects (5.2+/-2.4m/sec) (p<0.01). In hypertensive patients, E-E'/A-A' value was significantly lower (0.8+/-0.2) than that of normotensive subjects (1.6+/-0.4)(p<0.001). DF duration was similar in both groups. In conclusion, we found that Doppler mitral valve flow velocity profiles, EF slope and E-E'/A-A', were decreased in hypertensive patients, which may be due to the left ventricular diastolic dysfunction.

A Case of Combined Double Chambered Right Ventricle and Discrete Subaortic Stenosis

Combined double chambered right ventricle(DCRV) and discrete subaortic stenosis(DSAS) is a rare entity on which only 12 cases have been reported in the literature. We presented a case of combined DCRV and DSAS in an 18 year old girl. She had type II(thin membranous type) DSAS and the peak systolic prssure gradient between aorta and left ventricle was 38 mmHg. Aberrant muscle bundle was found on the right ventriculography and the pressure gradient in the right ventricle was 35 mmHg. She also had aortic regurgitation, persistent left sided superior vena cava and extracardiac malformations such as kyphoscoliosis and congenital cloacal anomaly.