1.Polymorphism of the ACE Gene in Dialysis Patients: Overexpression of DD Genotype in Type 2 Diabetic End-Stage Renal Failure Patients.
Hyeong Cheon PARK ; So Rae CHOI ; Beom Seok KIM ; Tae Hee LEE ; Byung Seung KANG ; Kyu Hyun CHOI ; Ho Yung LEE ; Dae Suk HAN ; Sung Kyu HA
Yonsei Medical Journal 2005;46(6):779-787
The angiotensin-converting enzyme (ACE) gene DD homozygote has been suggested to be a significant risk factor for the progression of diabetic nephropathy. We analyzed clinical parameters and ACE genotype distribution between type 2 diabetic patients at the extremes of renal risk, i.e. an end-stage renal failure (ESRF) group (n = 103, group 1) who were on dialysis therapy due to progression of diabetic nephropathy, and a no progression group (n = 88, group 2) who had maintained normal renal function and normoalbuminuria for more than 15 years. There were no significant differences in age, sex, body mass index, HbA1c level, or lipid profiles between the two groups (p > 0.05). Group 1 had a significantly higher prevalence of hypertension [group 1: 82.5% (85/103) vs. group 2: 50.0% (44/88), p < 0.05] and diabetic retinopathy [group 1: 103/103 (100%) vs. group 2: 28/88 (31.8%), p < 0.05] than group 2. Daily urinary albumin excretion was also higher in group 1 than in group 2 [group 1: 2873 +/- 2176 mg/day vs. 12 +/- 7 g/day, p < 0.05]. The frequencies of the DD, ID, and II genotypes of the ACE gene in group 1 and group 2 were 26.2%, 47.6%, and 26.2%, and 7.9%, 57.9%, and 34.2%, respectively. The ACE genotype frequencies between the two groups were significantly different according to a chi-square test with Bonferroni's correction (p = 0.004). The presence of the DD genotype increased the risk of ESRF 4.286-fold compared to the II genotype [odds ratio 4.286, 95% CI 1.60- 11.42, p = 0.005]. The frequency of the D-allele was higher in both male and female patients in group 1 compared to group 2, but reached statistical significance only in males [male, group 1: 50.8% vs. group 2: 35.0%, p = 0.018, female, group 1: 48.8% vs. group 2: 39.5%, p = 0.231]. This study, although limited by sample size, showed that type 2 diabetic ESRF patients more frequently expressed the DD genotype. These findings may substantiate the previously noted relationship between the ACE DD genotype and the progression of diabetic nephropathy in Korean type 2 diabetic patients.
Renal Dialysis
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*Polymorphism, Genetic
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Peptidyl-Dipeptidase A/*genetics/metabolism
;
Middle Aged
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Male
;
Kidney Failure, Chronic/diagnosis/*genetics
;
Humans
;
Homozygote
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Gene Frequency
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Female
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Diabetic Nephropathies/diagnosis/*genetics
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Diabetes Mellitus, Type 2/diagnosis/*genetics
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Aged
2.Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea.
Jeong Yup KIM ; Young Youl HYUN ; Ji Eun LEE ; Hye Ran YOON ; Gu Hwan KIM ; Han Wook YOO ; Seong Tae CHO ; No Won CHUN ; Byoung Chunn JEOUNG ; Hwa Jung KIM ; Keong Wook KIM ; Seong Nam KIM ; Yung A KIM ; Hyun Ah LEE ; Jong Young LEE ; Yung Chun LEE ; Hun Kwan LIM ; Keong Sik OH ; Seong Hwan SON ; Beong Hee YU ; Kyeong So WEE ; Eun Jong LEE ; Young Ki LEE ; Jung Woo NOH ; Seung Jung KIM ; Kyu Bok CHOI ; Suk Hee YU ; Heui Jung PYO ; Young Joo KWON
The Korean Journal of Internal Medicine 2010;25(4):415-421
BACKGROUND/AIMS: Fabry disease is an X-linked recessive and progressive disease caused by alpha-galactosidase A (alpha-GaL A) deficiency. We sought to assess the prevalence of unrecognized Fabry disease in dialysis-dependent patients and the efficacy of serum globotriaosylceramide (GL3) screening. METHODS: A total of 480 patients of 1,230 patients among 17 clinics were enrolled. Serum GL3 levels were measured by tandem mass spectrometry. Additionally, we studied the association between increased GL3 levels and cardiovascular disease, cerebrovascular disease, or left ventricular hypertrophy. RESULTS: Twenty-nine patients had elevated serum GL3 levels. The alpha-GaL A activity was determined for the 26 patients with high GL3 levels. The mean alpha-GaL A activity was 64.6 nmol/hr/mg (reference range, 45 to 85), and no patient was identified with decreased alpha-GaL A activity. Among the group with high GL3 levels, 15 women had a alpha-GaL A genetics analysis. No point mutations were discovered among the women with high GL3 levels. No correlation was observed between serum GL3 levels and alpha-GaL A activity; the Pearson correlation coefficient was 0.01352 (p = 0.9478). No significant correlation was observed between increased GL3 levels and the frequency of cardiovascular disease or cerebrovascular disease. CONCLUSIONS: Fabry disease is very rare disease in patients with end-stage renal disease. Serum GL3 measurements as a screening method for Fabry disease showed a high false-positive rate. Thus, serum GL3 levels determined by tandem mass spectrometry may not be useful as a screening method for Fabry disease in patients with end stage renal disease.
Adult
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Aged
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Fabry Disease/blood/*diagnosis
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Female
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Humans
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Kidney Failure, Chronic/blood/*therapy
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Male
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Middle Aged
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*Renal Dialysis
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Trihexosylceramides/*blood
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alpha-Galactosidase/genetics/metabolism
3.Clinico-Genetic Study of Nail-Patella Syndrome.
Beom Hee LEE ; Tae Joon CHO ; Hyun Jin CHOI ; Hee Kyung KANG ; In Seok LIM ; Yong Hoon PARK ; Il Soo HA ; Yong CHOI ; Hae Il CHEONG
Journal of Korean Medical Science 2009;24(Suppl 1):S82-S86
Nail-patella syndrome (NPS) is an autosomal dominant disease that typically involves the nails, knees, elbows and the presence of iliac horns. In addition, some patients develop glomerulopathy or adult-onset glaucoma. NPS is caused by lossof- function mutations in the LMX1B gene. In this study, phenotype-genotype correlation was analyzed in 9 unrelated Korean children with NPS and their affected family members. The probands included 5 boy and 4 girls who were confirmed to have NPS, as well as 6 of their affected parents. All of the patients (100%) had dysplastic nails, while 13 patients (86.7%) had patellar anomalies, 8 (53.3%) had iliac horns, 6 (40.0%) had elbow contracture, and 4 (26.7%) had nephropathy including one patient who developed end-stage renal disease at age 4.2. The genetic study revealed 8 different LMX1B mutations (5 missense mutations, 1 frame-shifting deletion and 2 abnormal splicing mutations), 6 of which were novel. Genotype-phenotype correlation was not identified, but inter- and intrafamilial phenotypic variability was observed. Overall, these findings are similar to the results of previously conducted studies, and the mechanism underlying the phenotypic variations and predisposing factors of the development and progression of nephropathy in NPS patients are still unknown.
Adolescent
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Child
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Child, Preschool
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DNA Primers/chemistry
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Female
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Genotype
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Homeodomain Proteins/*genetics
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Humans
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Infant
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Kidney Failure, Chronic/genetics
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Korea
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Male
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Mutation
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Nail-Patella Syndrome/diagnosis/*genetics/physiopathology
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Phenotype
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Transcription Factors/*genetics
4.Congenital nephrogenic diabetes insipidus with end-stage renal disease.
Hyun Ho RYU ; Jong Hoon CHUNG ; Byung Chul SHIN ; Hyun Lee KIM
The Korean Journal of Internal Medicine 2015;30(2):259-261
No abstract available.
Adult
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DNA Mutational Analysis
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Diabetes Insipidus, Nephrogenic/*complications/diagnosis/genetics/therapy
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Disease Progression
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Genetic Predisposition to Disease
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Humans
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Kidney Failure, Chronic/diagnosis/*etiology
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Male
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Mutation
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Phenotype
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Receptors, Vasopressin/genetics
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Renal Dialysis
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Tomography, X-Ray Computed
5.Kidney Transplantation in a Patient with End Stage Renal Disease after Complete Remission of Acute Promyelocytic Leukemia.
Hyun Ji CHUN ; Su Jeong KIM ; In O SUN ; Byung Ha CHUNG ; Ji Il KIM ; In Sung MOON ; Woo Sung MIN ; Chul Woo YANG
Journal of Korean Medical Science 2012;27(7):814-817
In general, a 2-yr disease-free duration is recommended before kidney transplantation (KT) in end-stage renal disease (ESRD) patients who also have acute leukemia. However, the optimal disease-free interval has not been specified for all subtypes of acute leukemia. Among these subtypes, acute promyelocytic leukemia (APL) shows a favorable prognosis and low relapse rate compared to other types of leukemia. We here report KT after complete remission (CR) of APL in an ESRD patient. Irreversible kidney injury developed in a 23-yr-old man with APL. First, we induced CR and subsequently performed KT 7 months after the achievement of CR. The patient's clinical course after KT was favorable, without allograft rejection or relapse of APL up to1 yr after KT. On the basis of our clinical experience, it is suggested that a long wait may not be necessary before KT in patients with ESRD and APL.
Adult
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Antineoplastic Agents/therapeutic use
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Arsenicals/therapeutic use
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Bone Marrow Cells/pathology
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Humans
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Kidney Failure, Chronic/*therapy/ultrasonography
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*Kidney Transplantation
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Leukemia, Promyelocytic, Acute/*diagnosis/drug therapy
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Male
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Oxides/therapeutic use
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Receptors, Retinoic Acid/genetics/metabolism
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Remission Induction
6.Novel Influenza A (H1N1) Infection in Immunocompromised Patients.
Kwan Yong SEO ; Hyun Chul LEE ; Yu Kyung KIM ; Won Kil LEE ; Kyung Eun SONG
The Korean Journal of Laboratory Medicine 2010;30(4):388-393
BACKGROUND: Since April 2009, novel influenza A (H1N1) infection is spreading throughout the world. This infection might be fatal for immunocompromised patients who are at a potentially high risk of developing infectious complications. We investigated the detection rate and features of H1N1 infection in immunocompromised patients. METHODS: Between August 2009 and February 2010, we examined 8,112 subjects, including 390 immunocompromised patients, for H1N1. Swab samples were taken from the nose and throat of the participants. Real-time PCR was performed to identify H1N1 viral genes. RESULTS: Positive results were obtained in 2,953/8,112 (36.4%) subjects and 46/390 (11.8%) immunocompromised patients. H1N1 was identified in 8.7% patients with solid cancer, 12.9% patients with hematologic malignancy, 16.7% patients with chronic renal disease, and 14.5% patients with kidney transplantation. The mean cycle threshold (Ct) value of PCR was significantly lower (P<0.05) in patients with hematologic malignancy as compared to that in patients with chronic renal disease and control subjects. Four patients died due to respiratory complications. CONCLUSIONS: The detection rate of H1N1 was significantly lower in immunocompromised patients than in other patients. The Ct value of patients with hematologic malignancy was significantly lower than that of other immunocompromised patients and control subjects.
Adolescent
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Adult
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Aged
;
Child
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Child, Preschool
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Female
;
Humans
;
*Immunocompromised Host
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Infant
;
Influenza A Virus, H1N1 Subtype/genetics/*isolation & purification
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Influenza, Human/complications/*diagnosis/epidemiology
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Kidney Failure, Chronic/complications
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Leukemia/complications
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Male
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Middle Aged
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Neoplasms/complications
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Polymerase Chain Reaction
7.Disseminated Mycobacterium avium Complex Infection in a Non-HIV-infected Patient Undergoing Continuous Ambulatory Peritoneal Dialysis.
Jin Won CHUNG ; Young Ju CHA ; Dong Jin OH ; Woo Jin NAM ; Su Hyun KIM ; Mi Kyung LEE ; Hye Ryoun KIM
The Korean Journal of Laboratory Medicine 2010;30(2):166-170
Isolated bone marrow infection by nontuberculous mycobacteria (NTM) is extremely rare. Recently, we encountered a case of bone marrow Mycobacterium avium complex (MAC) infection, which presented as a fever of unknown origin shortly after starting continuous ambulatory peritoneal dialysis (CAPD). The patient was diagnosed with MAC infection on the basis of PCR-restriction fragment length polymorphism analysis and sequencing of DNA obtained from bone marrow specimens. Although this was a case of severe MAC infection, there was no evidence of infection of other organs. End-stage renal disease (ESRD) patients undergoing dialysis can be considered immunodeficient; therefore, when these patients present with fever of unknown origin, opportunistic infections such as NTM infection should be considered in the differential diagnosis.
Aged
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Anti-Bacterial Agents/therapeutic use
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Bacterial Proteins/genetics
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Bone Marrow/microbiology/pathology
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Diagnosis, Differential
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Female
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HIV Infections/diagnosis
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Humans
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Kidney Failure, Chronic/therapy
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*Mycobacterium avium Complex/genetics/isolation &purification
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Mycobacterium avium-intracellulare Infection/*diagnosis/drug therapy/microbiology
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*Peritoneal Dialysis, Continuous Ambulatory
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Polymerase Chain Reaction
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Polymorphism, Restriction Fragment Length
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Sequence Analysis, DNA
8.Prevalence of Occult Hepatitis B Virus Infection in Hemodialysis Patients.
Jeong Hwan YOO ; Seong Gyu HWANG ; Dong Ho YANG ; Myung Su SON ; Chang Il KWON ; Kwang Hyun KO ; Sung Pyo HONG ; Pil Won PARK ; Kyu Sung RIM
The Korean Journal of Gastroenterology 2013;61(4):209-214
BACKGROUND/AIMS: The prevalence of occult HBV infection depends on the prevalence of HBV infection in the general population. Hemodialysis patients are at increased risk for HBV infection. The aim of this study was to determine the prevalence of occult HBV infection in hemodialysis patients. METHODS: Total of 98 patients undergoing hemodialysis in CHA Bundang Medical Center (Seongnam, Korea) were included. Liver function tests and analysis of HBsAg, anti-HBs, anti-HBc and anti-HCV were performed. HBV DNA testing was conducted by using two specific quantitative methods. RESULTS: HBsAg was detected in 4 of 98 patients (4.1%), and they were excluded. Among 94 patients with HBsAg negative and anti-HCV negative, one (1.1%) patient with the TaqMan PCR test and 3 (3.2%) patients with the COBAS Amplicor HBV test were positive for HBV DNA. One patient was positive in both methods. Two patients were positive for both anti-HBs and anti-HBc and one patient was negative for both anti-HBs and anti-HBc. CONCLUSIONS: The present study showed the prevalence of occult HBV infection in HBsAg negative and anti-HCV negative patients on hemodialysis at our center was 3.2%. Because there is possibility of HBV transmission in HBsAg negative patients on hemodialysis, more attention should be given to prevent HBV transmission.
Adult
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Aged
;
Aged, 80 and over
;
Antibodies/blood
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DNA, Viral/analysis
;
Feces/*virology
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Female
;
Hepatitis B/complications/*epidemiology/transmission
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Hepatitis B Core Antigens/immunology
;
Hepatitis B virus/genetics/immunology
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Hepatitis C Antibodies/blood
;
Humans
;
Kidney Failure, Chronic/*complications/diagnosis
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Male
;
Middle Aged
;
Polymerase Chain Reaction
;
Prevalence
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Renal Dialysis
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Risk Factors