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A Presumed Synonymous Mutation of PKD2 Caused autosomal dominant polycystic kidney disease in a Chinese Family

Current Medical Science 2021年第5期41卷 1029-1036页

作者： Lin-xia DENG Yuan YANG Jing YANG Luo-wen ZHOU Kang WANG Jian-hua ZHOU Department of Pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Department of Neurosurgery Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Department of Forensic Medicine Tongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

Objective:autosomal dominant polycystic kidney disease(ADPKD)is mainly caused by the pathogenic mutation of PKD1 or PKD2 gene and usually affects bilateral *** mutations are generally assumed to be neutral as they do not alter amino ***,we described an extremely rare ADPKD child caused by a heterozygous synonymous mutation of PKD2 gene accompanied by massive proteinuria and congenital solitary ***:Clinical characteristics of the patients were ***-exome sequencing was performed to screen the disease-causing gene mutation,and reverse transcription polymerase chain reaction(RT-PCR)and Sanger sequencing were applied to analyze the impact of the identified mutation on gene transcription and ***:polycystic changes were found in the solitary kidney of a girl initially presented with nephrotic-range *** her mother and 2 other family members were diagnosed to be ***-exome sequencing of the proband identified a heterozygous synonymous mutation(c.1716G>A,***572=)located in the splicing site of exon 7 in PKD2 gene,which was co-segregated with the PKD phenotype in the ***-PCR and direct sequencing of amplified products revealed that this heterozygous synonymous mutation led to exon7 skipping in PKD2 ***:We reported an extremely rare child case of ADPKD2 in combination with solitary kidney and nephrotic-range proteinuria,and firstly confirmed the pathogenicity of a heterozygous synonymous mutation(c.1716G>A)in PKD2 *** results indicate that synonymous mutations should not be excluded from disease-causing if they are located in splicing site of an exon.

关键词： autosomal dominant polycystic kidney disease child PKD2 gene splicing synonymous mutation

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Successful endoscopic surgery for emphysematous pyelonephritis in a non-diabetic patient with autosomal dominant polycystic kidney disease: A case report

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World Journal of Clinical Cases 2021年第12期9卷 2862-2867页

作者： Yi Jiang Richard Lo Zhen-Quan Lu Xiao-Bao Cheng Lin Xiong Bing-Feng Luo Department of Surgery The University of Hong Kong-Shenzhen HospitalShenzhen 518053Guangdong ProvinceChina

BACKGROUND Emphysema pyelonephritis(EPN)is a very dangerous type of urinary tract *** is a lethal disease that develops rapidly and causes the patient to deteriorate rapidly,and it can easily lead to systemic infections and even *** incidence is extremely low,and it is prevalent in patients with *** here report a case of EPN in a non-diabetic patient with autosomal dominant polycystic kidney disease(ADPKD).We share the diagnosis and treatment procedure for this extremely rare condition to make this disease easier to identify and address *** SUMMARY A 47-year-old woman presented to the emergency department of our hospital with a high fever and left back pain lasting 4 *** had a history of autosomal dominant polycystic kidney and polycystic *** was diagnosed with left type I EPN and her vital signs deteriorated so quickly that she underwent an emergency operation in which a D-J tube was inserted into her left ureter on the second day after *** months later,she underwent a second-stage flexible ureteroscopy and *** postoperative sepsis,she finally recovered after active symptomatic support treatment and effective anti-infective *** Although EPN is more likely to occur in diabetic patients,for non-diabetic patients with ADPKD and upper urinary tract obstruction,the disease also causes rapid *** and accurate diagnosis and timely removal of the obstruction by invasive means may be able to save the damaged kidney and the patient’s life.

关键词： Emphysematous pyelonephritis Necrotizing infection autosomal dominant polycystic kidney disease Flexible ureteroscopy lithotripsy Endoscopic surgery Lithotripsy Case report

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Spontaneous coronary dissection should not be ignored in patients with chest pain in autosomal dominant polycystic kidney disease:A case report

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World Journal of Clinical Cases 2021年第13期9卷 3095-3101页

作者： Jun Qian Yan Lai Li-Jun Kuang Fei Chen Xue-Bo Liu Department of Cardiology Tongji HospitalTongji University School of MedicineShanghai 200065China Department of Ultrasound Luwan BranchRuijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200065China

BACKGROUND When autosomal dominant polycystic kidney disease(ADPKD)presents with acute coronary syndrome(ACS),the possibility of spontaneous coronary artery dissection(SCAD)should be highly *** some cases,SCAD is considered an extrarenal manifestation of ADPKD depending on the pathological characteristics of the unstable arterial wall in *** SUMMARY Here,we report a 46-year-old female patient with ADPKD who presented with *** angiography revealed no definite signs of dissection,while intravascular ultrasound revealed a proximal to distal dissection of the left *** a careful conservative medication treatment,the patient exhibited favorable *** In cases of ADPKD co-existing with ACS,differential diagnosis of SCAD should be ***,when no clear dissection is found on coronary angiography,IVUS should be performed to prevent missed diagnosis.

关键词： Spontaneous coronary artery dissection autosomal dominant polycystic kidney disease Intravascular ultrasound Case report

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Tolvaptan ameliorated kidney function for one elderly autosomal dominant polycystic kidney disease patient: A case report

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World Journal of Clinical Cases 2022年第31期10卷 11500-11507页

作者： Li Zhou Yan Tian Liang Ma Wen-Ge Li Department of Nephrology China-Japan Friendship HospitalBeijing 100029China Department of Ultrasound Medicine China-Japan Friendship HospitalBeijing 100029China Department of Clinical Laboratory China-Japan Friendship HospitalBeijing 100029China

BACKGROUND polycystic kidney disease(PKD)is a genetic disorder characterized by the growth of numerous cysts within the *** progress of some patients often occurs at the early ***,managing and controlling disease progress is important to slow the kidney function decline especially for the patient with other *** SUMMARY One 80-year-old male autosomal dominant polycystic kidney disease(ADPKD)patient with chronic kidney disease and other clinical disorders was treated with tolvaptan and *** glomerular filtration rate,creatinine and uric acid were monitored during the *** addition,the whole exome sequencing was performed to screen ADPKD genetic *** kidney function decline was prevented after using tolvaptan and edoxaban treatment and in the meantime,a venous thromboembolism was removed and leg and pedal edema were *** mutation c.10102G>A/p.D3368N in the PKD1 gene was *** Tolvaptan combined with edoxaban administration could delay kidney function decline and eliminate the edema caused by the thromboembolism.

关键词： Chronic kidney disease autosomal dominant polycystic kidney disease Deep vein thrombosis Tolvaptan Case report

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Simultaneous kidney transplantation and ipsilateral native nephrectomy in patients with autosomal dominant polycystic kidney disease

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World Journal of Transplantation 2022年第9期12卷 310-312页

作者： Rabea Ahmed Gadelkareem Amr Mostafa Abdelgawad Nasreldin Mohammed Department of Urology Assiut Urology and Nephrology HospitalFaculty of MedicineAssiut UniversityAssiut 71515Egypt

The simultaneous kidney transplantation and ipsilateral native nephrectomy for autosomal dominant polycystic kidney disease does not seem to be associated with increased rates of comorbidity and *** outcome can effici... 详细信息

关键词： autosomal dominant polycystic kidney disease kidney transplantation Native nephrectomy Retroperitoneal approach Surgical complications

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Research on autosomal dominant polycystic kidney disease in China

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Chinese Medical Journal 2006年第22期119卷 1915-1924页

作者： DAI Bing MEI Chang-lin Division of Nephrology Kidney Institute of CPLA ChangzhengHospital Second Military Medical University Shanghai 200003China

Objective To review the history and recent development of research on autosomal dominant polycystic kidney disease （ADPKD） in China. Data sources Both Chinese and English literatures were searched in MEDLINE/CD ROM （1979 - 2006） and the Chinese Biomedical Literature Disk （1979 - 2006）. Study selection 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. Results 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. Condusions 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.

关键词： autosomal dominant polycystic kidney disease pathogenesis molecular diagnosis therapy

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Current management of autosomal dominant polycystic kidney disease

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World Journal of Nephrology 2015年第4期4卷 468-479页

作者： Jacob A Akoh South West Transplant Centre Plymouth Hospitals NHS Trust Derriford Hospital Plymouth PL6 8DH United Kingdom

autosomal dominant polycystic kidney disease （ADPKD）, the most frequent cause of genetic renal disease affecting approximately 4 to 7 million individuals worldwide and accounting for 7%-15% of patients on renal replacement therapy, is a systemic disorder mainly involving the kidney but cysts can also occur in other organs such as the liver, pancreas, arachnoid membrane and seminal vesicles. Though computed tomography and magnetic resonance imaging （MRI） were similar in evaluating 81% of cystic lesions of the kidney, MRI may depict septa, wall thickening or enhancement leading to upgrade in cyst classification that can affect management. A screening strategy for intracranial aneurysms would provide 1.0 additional year of life without neurological disability to a 20-year-old patient with ADPKD and reduce the fnancial impact on society of the disease. Current treatment strategies include reducing： cyclic adenosine monophosphate levels, cell proliferation and fluid secretion. Several randomised clinical trials （RCT） including mammalian target of rapamycin inhibitors, somatostatin analoguesand a vasopressin V2 receptor antagonist have beenperformed to study the effect of diverse drugs ongrowth of renal and hepatic cysts, and on deteriorationof renal function. Prophylactic native nephrectomy isindicated in patients with a history of cyst infection orecurrent haemorrhage or to those in whom space musbe made to implant the graft. The absence of largeRCT on various aspects of the disease and its treatmen leaves considerable uncertainty and ambiguity in many aspects of ADPKD patient care as it relates to end stage renal disease （ESRD）. The outlook of patients with ADPKD is improving and is in fact much better than that for patients in ESRD due to other causes. This review highlights the need for well-structured RCTs as a frst step towards trying newer interventions so as to develop updated clinical management guidelines.

关键词： autosomal dominant polycystic kidney disease Native nephrectomy Cyst decortication kidney transplantation Hypertension Drug therapy End stage renal disease Extrarenal manifestatation Total kidney volume

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Incidental renal cell carcinoma post bilateral nephrectomy in autosomal dominant polycystic kidney disease

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World Journal of Clinical Cases 2024年第28期12卷 6187-6194页

作者： Min-Ho Shin Nam-Kyu Choi Division of General Surgery Department of Hepato-Bilio-Pancreatic Surgery and Transplantation SurgeryChosun University College of MedicineGwangju 61453South Korea

BACKGROUND Renal cell carcinoma(RCC)is more common in patients with autosomal dominant polycystic kidney disease(ADPKD)than in the general *** RCC in ADPKD is challenging due to the presence of multiple renal cysts,often leading to delays and difficulties in distinguishing RCC from cyst infection or hemorrhage.A total of 38 kidneys were excised from 19 patients,with a mean age of 56.8 years and an average hemodialysis duration of 84.2 *** patients underwent open nephrectomies,and 11 underwent hand-assisted laparoscopic *** was detected in 15.8%of kidneys,affecting 21.1%of *** patients had multifocal RCC in both *** RCC cases were pT1 stage,with the largest lesion averaging 16.5 mm in *** average operative duration was 120 minutes,with intraoperative blood loss averaging 184.2 *** patients required blood *** complications occurred in five patients,with a mean hospital stay of 17.1 *** mean follow-up period was 28.1 *** The prevalence of RCC is higher in patients with ADPKD with ESRD than in those with ESRD ***,clinicians should be cautious and implement surveillance programs to monitor the development of RCC in patients with ADPKD,particularly those on dialysis.

关键词： Renal cell carcinoma autosomal dominant polycystic kidney disease End-stage renal disease kidney transplantation Nephrectomy

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Acute Effects of Tolvaptan on Renal Hemodynamics in autosomal dominant polycystic kidney disease —A Randomized, Cross-Over, Double Blind, Placebo-Controlled Study of Renal Plasma Flow and Glomerular Filtration Rate

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Open Journal of Nephrology 2019年第4期9卷 97-114页

作者： My Helbo Malmberg Frank Holden Mose Rikke Lund Sonderbaek June Anita Ejlersen Jens Jorgen Jensen Erling Bjerregaard Pedersen Jesper Norgaard Bech University Clinic in Nephrology and Hypertension Regional Hospital Jutland WestHolstebroDenmark University of Aarhus AarhusDenmark Department of Nuclear Medicine Regional Hospital Jutland WestHolstebroDenmark

Background: Previous studies have shown that reduced renal plasma flow (RPF) may play a role in progression of renal disease in autosomal dominant polycystic kidney disease (ADPKD). Tolvaptan, a vasopressin 2 antagonist, reduces growth of total kidney volume and slows the decrease in estimated glomerular filtration rate (eGFR) in ADPKD. The purpose of this randomized, cross-over, double-blind, placebo-controlled study was to investigate if acute tolvaptan treatment increases RPF in ADPKD patients. Methods: Eighteen ADPKD patients (chronic kidney disease stages I-III) were investigated twice (min. 10 days apart) after acute treatment with either tolvaptan 60 mg or placebo. Two hours after treatment RPF and GFR were estimated by Technetium-99m diethylenetriamine penta-acetic acid (99-mTc-DTPA) renography. During the examination day, central and brachial blood pressures (BP) were measured using Mobil-O-Graph? PWA. We also measured plasma concentrations of vasopressin (p-AVP), renin (PRC), angiotensin II (p-AngII) and aldosterone (p-Aldo), urine excretion of aquaporin 2 (u-AQP2), urine output (OU), urine osmolality (u-Osm) and fractional excretion of sodium (FENa). Results: 99-mTc-DTPA renography showed a similar RPF (673 ± 262 ml/min after tolvaptan vs. 650 ± 209 ml/min after placebo, p = 0.571) and GFR (78 ± 26 ml/min after tolvaptan vs. 79 ± 21 ml/min after placebo p = 0.774) after tolvaptan and placebo treatment. P-AVP and UO increased and u-Osm decreased after tolvaptan and remained unchanged during placebo. Systolic BP tended to decrease during renography during tolvaptan. Very small or insignificant changes were seen in PRC, p-AngII and p-Aldo. Conclusions: Acute tolvaptan treatment did not change renal hemodynamics in ADPKD.

关键词： autosomal dominant polycystic kidney disease Renal Plasma Flow Glomerular Filtration Rate Renography Brachial Blood Pressure Central Blood Pressure Vasopressin Renin Angiotensin II Aldosterone

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A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family

A novel splicing mutation in the PKD1 gene causes autosomal ...

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第一届中国临床分子诊断大会

作者： Xu Peiwen Huang Sexin Li Jie Zou Yang Gao Ming Gao Yuan Center for Reproductive Medicine

Background autosomal dominant polycystic kidney disease（ADPKD） is the most common monogenic renal disorder in humans, affecting 1 in 400 to 1000 individuals. Mutations PKD1（which accounts for 85% of ADPKD and produces polycystin-1） and PKD2（produces polycystin-2） are responsible for this disease. These two polycystins are critical for maintaining normal renal tubular structures during kidney development. Case presentation We performed genetic analysis on a family with ADPKD. DNA samples extracted from ADPKD patient blood were subject to targeted Next generation sequencing for human a panel of renal disease-related genes. A splicing mutation, c.2854-3 C＞G（also known as IVS11-3 C＞G）, in the PKD1 gene was found in the 3 patients from the family, but was not found in four unaffected relatives and 100 normal control samples. Reverse transcription-PCR（RT-PCR） was performed to analyse the relative m RNA expression in the patient samples. mRNA sequencing showed that 29 bases inserted into the 3’-end of exon 11 in the PKD1 gene lead to a frameshift mutation. Conclusions The PKD1 c.2854-3 C＞G mutation leads to a frameshift mutation during translation of the polycystin-1 protein, which eventually led to ADPKD in the Chinese family.

关键词： autosomal dominant polycystic kidney disease PKD1 gene Novel splice mutation Frameshift mutation

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