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1.
Chinese Journal of Pathophysiology ; (12): 1075-1080, 2018.
Article in Chinese | WPRIM | ID: wpr-701242

ABSTRACT

AIM:To investigate the effect of homeodomain-interacting protein kinase 2 (HIPK2) on the viabi-lity, apoptosis and JAK2/STAT3 signaling pathway in NRK-52E renal tubular epithelial cells induced by hypoxia and reox-ygenation (H/R). METHODS:HIPK2 small interfering RNA (siRNA) was transfected into NRK-52E cells by Lipo-fectamineTM 2000, and normal control group (control group) and negative control group (HIPK2-NC group) were set up. After H/R, the cell viability was measured by CCK-8 assay, the apoptotic rate and Ca2+ fluorescence intensity were ana-lyzed by flow cytometry, and the protein levels of Ki67, cleaved caspase-3, caspase-12, Bcl-2, Bax, p-JAK2 and p-STAT3 were determined by Western blot. RESULTS:Compared with control group, the protein expression of HIPK2 in the NRK-52E cells was significantly decreased after transfection with HIPK2 siRNA (P<0.05). Compared with control group, the cell viability and the protein expression of Ki67 and Bcl-2 in H/R group were also significantly decreased, and the apoptotic rate, the Ca2+ fluorescence intensity and the protein levels of cleaved caspase-3, caspase-12, Bax, p-JAK2 and p-STAT3 were significantly increased (P<0.05). Compared with H/R group, the cell viability and the protein expression of Ki67 and Bcl-2 in HIPK2-siRNA+H/R group were significantly increased, while the apoptotic rate, the Ca2+ fluorescence inten-sity and the protein levels of cleaved caspase-3, caspase-12, Bax, p-JAK2 and p-STAT3 were significantly decreased (P<0.05). CONCLUSION:Inhibition of HIPK2 gene expression promotes H/R-induced growth of NRK-52E renal tubular epi-thelial cells, and reduces the apoptosis. The mechanism is related to down-regulating the JAK2/STAT3 signaling pathway.

2.
Academic Journal of Second Military Medical University ; (12): 1-5, 2018.
Article in Chinese | WPRIM | ID: wpr-838217

ABSTRACT

Chronic kidney disease has become a global public health issue with high prevalence, low awareness, poor prognosis and high cost of medical care. In 2015, the Shanghai Municipal Health and Family Planning Commission approved the “Systemic Redesign and Demonstration for Early Detection, Evaluation and Management of Chronic Kidney Disease in Shanghai” as the fourth round of Shanghai 3-Year Action Plan for Public Health System Construction, and the initial results have been achieved in three years. In this program, we established a new system of three-level prevention and treatment for chronic kidney disease by combining medicine with prevention, hoping to achieve early detection, effective prevention and standardize treatment of chronic kidney disease in Shanghai, and to reduce the incidence, morbidity and mortality, so as to make a model for the prevention and treatment of chronic kidney disease in China.

3.
Chinese Medical Journal ; (24): 4204-4209, 2013.
Article in English | WPRIM | ID: wpr-327602

ABSTRACT

<p><b>BACKGROUND</b>A multi-center large scale study is needed to confirm the efficacy and safety of domestic peritoneal dialysis (PD) solutions. Some researchers believe that 6 L/d is enough for adequate dialysis, but there is no multi-center prospective study on Chinese population to confirm this. In this study, we evaluated the efficacy and safety of domestic PD solution (Changfu) and its difference between 6 L and 8 L dosage.</p><p><b>METHODS</b>Adult PD patients who had taken PD therapy for at least one month were selected and divided into four groups according to two dialysis solution brands and two dialysis dosages, i.e., 6 L dose with Changfu dialysis solution, 6 L dose with Baxter dialysis solution, 8 L dose with Changfu dialysis solution, and 8 L dose with Baxter dialysis solution. After 48 weeks, the changes of primary and secondary efficacy indices were compared between different types and different dosages. We also analyzed the changes of safety indices.</p><p><b>RESULTS</b>Changes of Kt/V from baseline to 48 weeks between Changfu and Baxter showed no statistical differences; so did those of creatinine clearance rate (Ccr). Normalized protein catabolic rate (nPCR) from baseline to 48 weeks between Changfu and Baxter showed no statistical differences; so did those of net ultrafiltration volume (nUF) and estimated glomerular filtration rate (eGFR). Changes of nPCR from baseline to 48 weeks between 6 L and 8 L showed no statistical differences; so did those of nUF and eGFR. The decline of Kt/V from baseline to 48 weeks in 6 L group was more than that in 8 L group. Change of Ccr was similar. During the 48-week period, the mean Kt/V was above 1.7/w, and mean Ccr was above 50 L×1.73 m(-2)×w(-1). More adverse events were found in Changfu group before Changfu Corporation commenced technology optimization, and the statistical differences disappeared after that.</p><p><b>CONCLUSIONS</b>The domestic PD solution (Changfu) was proven to be as effective as Baxter dialysis solution. During 48-week period, a dosage of 6 L/d was enough for these patients to reach adequate PD. Clinical study promotes technological optimization, further helps to improve the safety indices of the medical products.</p>


Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Dialysis Solutions , Therapeutic Uses , Peritoneal Dialysis , Methods
4.
Chinese Medical Journal ; (24): 4562-4567, 2013.
Article in English | WPRIM | ID: wpr-327529

ABSTRACT

<p><b>BACKGROUND</b>IgA nephropathy (IgAN) is the most common primary glomerular disease. Transforming growth factor β1 (TGFβ1) plays an important role in pathogenesis of IgAN. Associations between the polymorphisms of TGFβ1 gene and the risk of IgAN remained inconsistent. A meta-analysis was conducted to investigate the association between polymorphisms in the TGFβ1 gene and IgAN susceptibility.</p><p><b>METHODS</b>Databases including Pubmed, EMBASE, ISI, et al. were searched to find relevant studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to evaluate the strength of associations.</p><p><b>RESULTS</b>Ten studies involving 1770 cases and 1953 controls were included. Significant association between C509T polymorphism and IgAN risk was observed (OR 1.42, 95% CI 1.12-1.81, P = 0.0004; I(2) = 0%) in Caucasians by the overdominant model (CT vs. CC + TT), but no significant association was found (P = 0.200) in Asians by the dominant model (CC + CT vs. TT). Significant association between T869C polymorphism and IgAN susceptibility was found (OR 1.21, 95% CI 1.02-1.44, P = 0.030) in overall populations by the dominant model (TT + TC vs. CC). Subgroup analysis found T allele of T869C polymorphism was associated with IgAN susceptibility in Caucasians (P = 0.030), but not in Asians (P = 0.290).</p><p><b>CONCLUSION</b>Both heterozygotes of C509T polymorphism and T allele of T869C polymorphism in TGFβ1 were associated with the risk of IgAN in Caucasians, but not in Asians.</p>


Subject(s)
Humans , Asian People , Genetics , White People , Genetics , Genetic Predisposition to Disease , Genetics , Glomerulonephritis, IGA , Epidemiology , Genetics , Polymorphism, Genetic , Genetics , Transforming Growth Factor beta1 , Genetics
5.
Chinese Medical Journal ; (24): 2276-2280, 2013.
Article in English | WPRIM | ID: wpr-272995

ABSTRACT

<p><b>BACKGROUND</b>Data on the epidemiology of hypertension in Chinese non-dialysis chronic kidney disease (CKD) patients are limited. The aim of the present study was to investigate the prevalence, awareness, treatment, and control of hypertension in the non-dialysis CKD patients through a nationwide, multicenter study in China.</p><p><b>METHODS</b>The survey was performed in 61 tertiary hospitals in 31 provinces, municipalities, and autonomous regions in China (except Hong Kong, Macao, and Taiwan). Trained physicians collected demographic and clinical data and measured blood pressure (BP) using a standardized protocol. Hypertension was defined as systolic BP ≥ 140 mmHg and/or diastolic BP ≥ 90 mmHg, and/or use of antihypertensive medications. BP < 140/90 mmHg and < 130/80 mmHg were used as the 2 thresholds of hypertension control. In multivariate logistic regression with adjustment for sex and age, we analyzed the association between CKD stages and uncontrolled hypertension in non-dialysis CKD patients.</p><p><b>RESULTS</b>The analysis included 8927 non-dialysis CKD patients. The prevalence, awareness, and treatment of hypertension in non-dialysis CKD patients were 67.3%, 85.8%, and 81.0%, respectively. Of hypertensive CKD patients, 33.1% and 14.1% had controlled BP to < 140/90 mmHg and < 130/80 mmHg, respectively. With successive CKD stages, the prevalence of hypertension in non-dialysis CKD patients increased, but the control of hypertension decreased (P < 0.001). When the threshold of BP < 130/80 mmHg was considered, the risk of uncontrolled hypertension in CKD 2, 3a, 3b, 4, and 5 stages increased 1.3, 1.4, 1.4, 2.5, and 4.0 times compared with CKD 1 stage, respectively (P < 0.05). Using the threshold of < 140/90 mmHg, the risk of uncontrolled hypertension increased in advanced stages (P < 0.05).</p><p><b>CONCLUSIONS</b>The prevalence of hypertension Chinese non-dialysis CKD patients was high, and the hypertension control was suboptimal. With successive CKD stages, the risk of uncontrolled hypertension increased.</p>


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Awareness , Hypertension , Epidemiology , Therapeutics , Prevalence , Renal Insufficiency, Chronic
6.
Chinese Medical Journal ; (24): 3434-3439, 2012.
Article in English | WPRIM | ID: wpr-316492

ABSTRACT

<p><b>BACKGROUND</b>Understanding the characteristics of Chinese dialysis patients and the current practice trends is the first step to evaluate the association between practice pattern and outcome in these populations. In the present study, we evaluated the status of medical treatment and characteristic features of chronic dialysis patients in China.</p><p><b>METHODS</b>Through a clustering sampling, we selected 9 centers from the largest dialysis facilities in 6 cities around China. All adult undergoing dialysis in the selected units were screened. A total of 2388 (1775 on hemodialysis (HD) and 613 on peritoneal dialysis (PD)) patients were finally enrolled. All data were collected at enrollment on the bases of review of medical records.</p><p><b>RESULTS</b>In this cohort, 1313 (55.0%) were male. The mean age was 54 years old. The median time for dialysis was 26 months (12 - 51 months). Seventy-five percent of patients were on HD and 25.0% on PD. Among PD patients, about 21% patients did not receive dialysis adequacy. For HD patients, about 14.0% of them did not achieve dialysis adequacy when the target of kt/V was set as 1.2. Only 44.7% of patients achieved blood pressure target of 140/90 mmHg. About 60% of patients did not reach the hemoglobin target of 110 g/L even though 85.0% of them were treated with erythropoietin. In addition, 48.5% of the patients had uncontrolled mineral metabolism revealed by the high calcium-phosphate product. Compared with HD patients, higher level of serum glucose, triglyceride, and total and low density lipoprotein cholesterol were more common in PD patients.</p><p><b>CONCLUSIONS</b>This observational study suggests that many Chinese dialysis patients did not achieve the therapeutic target, particularly in blood pressure control, anemia correction, and mineral balance. PD patients were more likely to suffer metabolic disturbance.</p>


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Anemia , Blood Pressure , Physiology , Peritoneal Dialysis , Renal Dialysis
7.
Chinese Medical Journal ; (24): 3326-3333, 2010.
Article in English | WPRIM | ID: wpr-241583

ABSTRACT

<p><b>OBJECTIVE</b>There is a paucity of published works that systematically evaluate gene anomalies or clinical features of patients with renal cysts and diabetes syndrome (RCAD)/maturity onset diabetes of the young type 5 (MODY5). The purpose of this review was to systematically assess the detection rate, genetic and phenotypic implications of heterozygous autosomal dominant TCF2 anomalies.</p><p><b>DATA SOURCES</b>MEDLINE database was searched to select articles recorded in English from 1997 to 2008. The focus was monoallelic germline TCF2 gene mutations/deletions. Biallelic inactivation, polymorphisms, DNA modification (hypomethylation and hypermethylation), loci associated with cancer risk, and somatic TCF2 anomalies were all excluded.</p><p><b>STUDY SELECTION</b>After searching the literature, 50 articles were selected.</p><p><b>RESULTS</b>The detection rate of TCF2 anomalies was 9.7% and varied considerably among MODY (1.4%), renal structure anomalies (RSA) (21.4%) and RSA with MODY (41.2%) subgroups. Mutations were strikingly located within the DNA binding domain and varied among exons of the DNA binding domain: exons 2 and 4 were the hottest spots, while mutations were sporadically distributed in exon 3. The consistent phenotypes were RSA (89.6%) and diabetes mellitus (DM) (45.0%). However, the concurrence of RSA and DM was relatively low (27.5%), which hinders the optimal performance of genetic testing and obtainment of timely diagnosis. Other organ involvements were complementary and necessary for the early identification of patients with TCF2 anomalies. Analysis of phenotypes of TCF2 point mutations showed significant differences in the detection rates of RSA, impaired renal function (IRF) and DM according to mutation type but not mutation location.</p><p><b>CONCLUSION</b>These valuable features of TCF2 anomalies that previously did not receive sufficient attention should not be neglected.</p>


Subject(s)
Humans , Central Nervous System Diseases , Metabolism , Dental Enamel , Congenital Abnormalities , Metabolism , Diabetes Mellitus , Metabolism , Diabetes Mellitus, Type 2 , Metabolism , Hepatocyte Nuclear Factor 1-beta , Metabolism , Kidney Diseases, Cystic , Metabolism
8.
Chinese Journal of Medical Genetics ; (6): 283-288, 2006.
Article in Chinese | WPRIM | ID: wpr-263795

ABSTRACT

<p><b>OBJECTIVE</b>To develop a screening system for more rapid and sensitive mutation detection of autosomal dominant polycystic kidney disease (ADPKD) gene 1 (PKD1) by using denaturing high-performance liquid chromatography (DHPLC) protocol.</p><p><b>METHODS</b>Using genomic DNA as templates extracted from blood samples of 19 Han pedigrees with 67 family members, the complete codon areas were amplified by long-range PCR and nested PCR in succession, and then the PCR products were analyzed by DHPLC. The mutations from screened abnormal PCR products were confirmed by DNA sequencing, and then compared with the mutations identified by single strand conformation polymorphism (SSCP) before.</p><p><b>RESULTS</b>There were 14 mutations found in this study, including 10 missense, 1 insertion, 1 deletion and 2 nonsense mutations. Besides 12 mutations identified before, mutations nt32819G>A and nt37137T>C were the novel mutations found. The mutation detection ratio was 73.7%.</p><p><b>CONCLUSION</b>This developed system via DHPLC can be used as a more effective approach for mutation detection of autosomal dominant polycystic kidney disease PKD1 in Hans.</p>


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Asian People , Genetics , Base Sequence , China , Chromatography, High Pressure Liquid , Methods , DNA Mutational Analysis , Family Health , Mutation , Pedigree , Polycystic Kidney, Autosomal Dominant , Diagnosis , Ethnology , Genetics , Polymerase Chain Reaction , Polymorphism, Single-Stranded Conformational , TRPP Cation Channels , Genetics
9.
Chinese Medical Journal ; (24): 1915-1924, 2006.
Article in English | WPRIM | ID: wpr-273387

ABSTRACT

<p><b>OBJECTIVE</b>To review the history and recent development of research on autosomal dominant polycystic kidney disease (ADPKD) in China.</p><p><b>DATA SOURCES</b>Both Chinese and English literatures were searched in MEDLINE/CD ROM (1979 - 2006) and the Chinese Biomedical Literature Disk (1979 - 2006).</p><p><b>STUDY SELECTION</b>Published articles about ADPKD from mainland of China were selected. Data were mainly extracted from 58 articles which are listed in the reference section of this review.</p><p><b>RESULTS</b>Some preliminary reports on cyst decompression surgeries and mutation analysis represent the contribution to the ADPKD research from China in the history. A serial of basic research and clinical studies on ADPKD in recent years also have been summarized. A technique platform for ADPKD research was firstly established. The genomics/proteomics/bioinformatics approach was introduced, which provide a lot of valuable information for understanding the pathogenesis. By denature high performance liquid chromatography (DHPLC) technique the entire PKD1 and PKD2 gene sequence screening system for Chinese Han population has been successfully established. Based on the characteristic data of Chinese patients, an integrated therapy protocol was put forward and won an advantage over the traditional therapy. Some novel experimental studies on therapy also were encouraging.</p><p><b>CONCLUSIONS</b>Remarkable progress of ADPKD research in China have been made recently. Still many works, including the government support, international collaboration and active participation of more Chinese nephrologists, should be enhanced to advance this process in the near future.</p>


Subject(s)
Humans , Cell Line , China , Peptide Fragments , Polycystic Kidney, Autosomal Dominant , Diagnosis , Genetics , Therapeutics , ErbB Receptors , Research , TRPP Cation Channels
10.
Chinese Journal of Medical Genetics ; (6): 705-708, 2005.
Article in Chinese | WPRIM | ID: wpr-263867

ABSTRACT

<p><b>OBJECTIVE</b>To detect the differentially expressed genes in human polycystic kidney by cDNA microarray.</p><p><b>METHODS</b>The PCR products of 8398 genes were spotted onto a chip in array. Both mRNAs isolated from polycystic kidney tissue and normal kidney tissue were reversely transcribed to cDNAs with the incorporation of fluorescent dUTP (Cy5-dUTP and Cy3-dUTP) for preparing the hybridization probes. The mixed probes were hybridized to the cDNA microarray. Then the cDNA microarray was scanned for the fluorescent signals and the display of differences between the 2 tissues. IGF1 mRNA, one of the up regulated genes was detected by in situ hybridization technique in the two tissues to validate the result from cDNA microarray.</p><p><b>RESULTS</b>The result indicated that the expressions of 263 genes were up regulated while the expressions of 94 genes were down regulated in the polycystic kidney tissue among the 8398 target genes. Bioinformatical analysis of those genes had been performed. The up-regulated genes were mainly the ones of oncogene, cellular skeleton and movement, apoptosis related protein, cell signal transduction protein, and cytokine. The down regulated genes were mainly the ones of anti-oncogene, DNA binding and transcription factors, cell signal transduction protein, and metabolism protein. The IGF1 mRNA expression detected by in situ hybridization was consequently consistent with the cDNA microarray.</p><p><b>CONCLUSION</b>cDNA microarray is an effective and quick method for studying differential expressed genes. Three hundred and fifty-seven differentially expressed genes with different functions were revealed in the polycystic kidney tissue, which may play some roles in the progression of polycystic kidney.</p>


Subject(s)
Humans , Carbocyanines , Chemistry , Computational Biology , DNA, Complementary , Chemistry , Genetics , Fluorescent Dyes , Chemistry , Gene Expression Profiling , In Situ Hybridization , Insulin-Like Growth Factor I , Genetics , Oligonucleotide Array Sequence Analysis , Methods , Polycystic Kidney, Autosomal Dominant , Genetics , Reproducibility of Results , Reverse Transcriptase Polymerase Chain Reaction , Methods
11.
Chinese Journal of Pathology ; (12): 646-649, 2005.
Article in Chinese | WPRIM | ID: wpr-297261

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the expression and function of PKD1 and PKD2 in different kidney tissues and cell lines.</p><p><b>METHODS</b>Immunoprecipitation, Western blotting, In situ hybridization and immunohistochemical staining methods were used to observe the expression of PKD1 mRNA and PKD2 mRNA and their protein abundance in different kidney tissues and cell lines.</p><p><b>RESULTS</b>Coordinate expressions of PKD1 and PKD2 were found in all kidney tissues and cell lines. Distribution of PKD1 mRNA and PKD2 mRNA and their protein polycystin-1 and polycystin-2 in normal human adult kidney tissue were mainly expressed in the medullary collecting ducts and distal tubules. Positive staining was also found in the majority of cyst-lining epithelial cells of PKD1 cystic kidney tissue, PKD1 cyst-lining epithelia cell line and LLC-PK1. The expression level of them in cystic epithelia of ADPKD kidney tissue was much higher than that in adult renal tubules (P < 0.01).</p><p><b>CONCLUSIONS</b>Similar expression pattern of PKD1 and PKD2 and their different tissue distribution in different kidney tissues show that the molecular mutuality of PC-1 and PC-2 might be the base of their functional correlation. Polycystins might play an important role in the maintenance of tubular architecture.</p>


Subject(s)
Adult , Animals , Humans , Cell Line , Gene Expression , Kidney , Metabolism , Kidney Tubules, Collecting , Metabolism , Kidney Tubules, Distal , Metabolism , Kidney Tubules, Proximal , Cell Biology , Polycystic Kidney, Autosomal Dominant , Pathology , RNA, Messenger , Genetics , Swine , TRPP Cation Channels , Metabolism
12.
Chinese Journal of Nephrology ; (12)2005.
Article in Chinese | WPRIM | ID: wpr-679496

ABSTRACT

Objective To initially investigate the mechanism of COX-2 inhibitor inducing cell apoptosis through the observation of celecoxib (CXB),a specific COX-2 inhibitor,inducing apoptosis of cyst lining epithelial cells of human polycystic kidney.Methods (1)Primarily cultured cell was divided into control group and CXB group to evaluate the proliferative state by Brdu assay.(2)The cell apoptosis was observed by transmitted electronic microscope after being cultured in CXB 2?10~(-5) mol/L for 24,48 hours.(3)The cell apoptosis and apoptotic rate were detected by TUNEL assay.(4) The cell apoptotic rate were measured by AnnexinV,PI-labeled flow cytometry after being cultured in CXB 2?10~(-5) mol/L for 0,24,48 hours.(5)Protein expression of Bax,Bcl-2,caspase 3 was examined by Western blotting.Results (1)The Brdu assay revealed that CXB inhibited cell growth in a concentration-dependent manner,with the maximum growth inhibition ratio of 63.9% when treated by CXB 2?10~(-5) mol/L for 24 h.(2)Typical morphological changes of apoptotic cell were apoptotic body, nuclear concentration,chromatin aggregation,endochylema vacuolization and ravinement under eletrou microscope.(3)TUNEL assay showed that the apoptotic rate was (2.8?0.2)% in control group,and (28.5?1.6)%,(48.5?1.2)% in CXB group for 24,48 hours respectively,with significant differences to control group(P<0.05).(4) AnnexinV,PI-labeled flow cytometry showed that,in 0,0.5,1,2?10~(-5) mol/L CXB group,the apoptotic rates were (3.15?0.05)%,(7.15?0.11)%,(7.76?0.08)%, (12.15?0.07)% for 24 hours respectively,and (13.53?0.21)%,(18.36?0.17)%,(24.87?0.25)%, (53.66?0.32)% for 48 hours respectively.Significant differences were found among corresponding groups(all P<0.01 ).(5) Extracted total cell protein in every group and more protein of Bax,Bcl-2 expressed in CXB-treated group was detected by Western blotting than that in control group. Conclusions CXB can inhibit the proliferation of cyst liner epithelial cells in a time- and concentration- dependent manner,and induce cell apoptosis through increasing the ratio of Bax/Bcl-2.CXB is hopeful to become an effective drug to treat ADPKD.

13.
Chinese Journal of Medical Genetics ; (6): 211-214, 2004.
Article in Chinese | WPRIM | ID: wpr-328916

ABSTRACT

<p><b>OBJECTIVE</b>To detect the mutations of autosomal dominant polycystic kidney disease gene 2(PKD2)in Chinese.</p><p><b>METHODS</b>The white blood cell genomic DNA from patients of 94 Chinese autosomal dominant polycystic kidney disease(ADPKD) pedigrees was isolated and amplified by polymerase chain reaction(PCR). The PCR products were analyzed by denaturing high-performance liquid chromatography(DHPLC). The samples with abnormal profiles were sequenced.</p><p><b>RESULTS</b>Eight mutations were identified, including 2 nonsense mutations, 2 deletion mutations,1 insertion mutation and 3 missense mutations. Two nonsense mutations occurred in exon 5(1249C-->T) and exon 13(2407C-->T),both resulted in a stop codon. The insertion was in exon 2(636-637 ins T),and the deletion mutations were in exons 12(2348-2351 del AGAA) and 13(2401 delete A),resulting in the reading frame shift. Three missense mutations were in exons 1(G568-->A),4(C964-->T),and 5(G1168-->A), which caused amino acid changes (190Ala-->Thr,322Arg-->Trp,390Gly-->Ser).</p><p><b>CONCLUSION</b>The method of DHPLC was used in detecting mutations successfully and 8 mutations in PKD2 were identified. It will be useful in the molecular diagnosis of ADPKD in advance of the cysts formation and birth.</p>


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Female , Humans , Male , Middle Aged , Chromatography, High Pressure Liquid , Membrane Proteins , Genetics , Mutation , Nucleic Acid Denaturation , Polycystic Kidney, Autosomal Dominant , Genetics , TRPP Cation Channels
14.
Chinese Journal of Medical Genetics ; (6): 325-328, 2004.
Article in Chinese | WPRIM | ID: wpr-328885

ABSTRACT

<p><b>OBJECTIVE</b>To use microsatellite DNA tightly linked to polycystic kidney disease gene 2 in the gene diagnosis of autosomal dominant polycystic kidney disease type 2.</p><p><b>METHODS</b>Microsatellite DNA of D4S1534, D4S1542, D4S1563,D4S2460 and D4S423 were amplified with PCR and the fragments of products were analyzed by capillary electrophoresis and Genescan and Genotyper software, and then gene diagnosis of the pedigrees was made by linkage analysis.</p><p><b>RESULTS</b>Three families were found to be linked to PKD2 in 20 families. Two carriers of PKD2 mutation were revealed by linkage analysis.</p><p><b>CONCLUSION</b>Gene diagnosis can be done for PKD2 mutation carriers prior to cytogenesis. Linkage analysis is a rapid, simple method for studying the heterogeneity of polycystic kidney disease and for diagnosing the disease at the molecular level.</p>


Subject(s)
Female , Humans , Male , Genetic Linkage , Microsatellite Repeats , Genetics , Mutation , Polycystic Kidney, Autosomal Dominant , Diagnosis , Genetics , TRPP Cation Channels , Genetics
15.
Academic Journal of Second Military Medical University ; (12): 373-375, 2001.
Article in Chinese | WPRIM | ID: wpr-736855

ABSTRACT

Objective:To study the clinical and pathologic features of patients with lupus nephritis (LN) whose myeloperoxidase anti-neutrophil cytoplasmic antibody (MPO-ANCA) were positive. Methods:The clinical and pathological features were analyzed in 18 patients with LN whose MPO-ANCA were positive. And the data of patients with different clinical outcomes were compared. Results:(1)The hematological abnormalities, hypertension and serositis in these patients were more common than general ones with LN. (2)Proteinuria and hematuria were common, the morbidities of gross hematuria and renal failure in these patients were higher than general ones with LN.(3)Various autoantibodies were positive in these patients.(4)Segmental necrosis crescentic nephritis accompanied by density of immunocomplex in glomeruli and vasculitis in intestitium were common.(5)The morbidity of ESRF and mortality of these patients were similar to general ones with LN. The morbidity of tubular atrophy in those with poor prognosis was significantly higher than those survived. Conclusion:The patients with LN whose MPO-ANCA are positive have some difference from those with negative MPO-ANCA, but positive MPO-ANCA is not directly related to the prognosis.

16.
Academic Journal of Second Military Medical University ; (12): 313-315, 2001.
Article in Chinese | WPRIM | ID: wpr-736838

ABSTRACT

Objective: To obtain polycystin-1 intracellular region. Methods: cDNA of polycystin-1 intracellular region was generated by PCR and then cloned into pProEX Hta, which was prokaryotic expression vector. After verified by sequencing, the recombinant was transformed into E.coli host to express and purify the fusion protein by affinity chromatography. Results: 660 bp cDNA of polycystin-1 intracellular region and 2.6×104 fusion protein were obtained. Conclusion: The fusion protein containing polycystin-1 intracellular region is obtained and is helpful for preparing anti-polycystin-1 monoclonal antibody.

17.
Academic Journal of Second Military Medical University ; (12): 173-175, 2001.
Article in Chinese | WPRIM | ID: wpr-736828

ABSTRACT

Objective: To observe the effect of L-carniti ne (L-CN) in the treatment of congestive heart failure (CHF). Meth ods: Fifty-six cases of chronic CHF randomly received routine treatment (Digitalis, diuretics, vasodilator, ACEI or βblocker) or L-CN (3.0 g/d ,V D×10 d) with routine therapy. Results: The treatment efficiency of L-CN group and control group were 89.3% and 60.7% (P<0.01), respect ively. No adverse reactions related to the drug were observed. Conclusio n: L-CN with routine therapy might be a safe way to the treat CHF.

18.
Academic Journal of Second Military Medical University ; (12): 373-375, 2001.
Article in Chinese | WPRIM | ID: wpr-735387

ABSTRACT

Objective:To study the clinical and pathologic features of patients with lupus nephritis (LN) whose myeloperoxidase anti-neutrophil cytoplasmic antibody (MPO-ANCA) were positive. Methods:The clinical and pathological features were analyzed in 18 patients with LN whose MPO-ANCA were positive. And the data of patients with different clinical outcomes were compared. Results:(1)The hematological abnormalities, hypertension and serositis in these patients were more common than general ones with LN. (2)Proteinuria and hematuria were common, the morbidities of gross hematuria and renal failure in these patients were higher than general ones with LN.(3)Various autoantibodies were positive in these patients.(4)Segmental necrosis crescentic nephritis accompanied by density of immunocomplex in glomeruli and vasculitis in intestitium were common.(5)The morbidity of ESRF and mortality of these patients were similar to general ones with LN. The morbidity of tubular atrophy in those with poor prognosis was significantly higher than those survived. Conclusion:The patients with LN whose MPO-ANCA are positive have some difference from those with negative MPO-ANCA, but positive MPO-ANCA is not directly related to the prognosis.

19.
Academic Journal of Second Military Medical University ; (12): 313-315, 2001.
Article in Chinese | WPRIM | ID: wpr-735370

ABSTRACT

Objective: To obtain polycystin-1 intracellular region. Methods: cDNA of polycystin-1 intracellular region was generated by PCR and then cloned into pProEX Hta, which was prokaryotic expression vector. After verified by sequencing, the recombinant was transformed into E.coli host to express and purify the fusion protein by affinity chromatography. Results: 660 bp cDNA of polycystin-1 intracellular region and 2.6×104 fusion protein were obtained. Conclusion: The fusion protein containing polycystin-1 intracellular region is obtained and is helpful for preparing anti-polycystin-1 monoclonal antibody.

20.
Academic Journal of Second Military Medical University ; (12): 173-175, 2001.
Article in Chinese | WPRIM | ID: wpr-735360

ABSTRACT

Objective: To observe the effect of L-carniti ne (L-CN) in the treatment of congestive heart failure (CHF). Meth ods: Fifty-six cases of chronic CHF randomly received routine treatment (Digitalis, diuretics, vasodilator, ACEI or βblocker) or L-CN (3.0 g/d ,V D×10 d) with routine therapy. Results: The treatment efficiency of L-CN group and control group were 89.3% and 60.7% (P<0.01), respect ively. No adverse reactions related to the drug were observed. Conclusio n: L-CN with routine therapy might be a safe way to the treat CHF.

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