نتایج جستجو برای: adpkd
تعداد نتایج: 1335 فیلتر نتایج به سال:
Background: It is well known that the neutrophil-lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR) are available markers of systemic inflammation, and increased inflammation is along with progress of chronic kidney disease (CKD). The inflammation is risk factors for increased morbidity and mortality in autosomal dominant polycystic kidney disease (ADPKD). Therefore, we evaluate the ass...
BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic hereditary kidney disease characterized by progressive enlargement of renal cysts. The incidence is 1-2‰ worldwide. Mutations in two genes (PKD1 and PKD2) cause ADPKD. Currently, there is no pharmaceutical treatment available for ADPKD patients in China. Summary: This review focused on advances in clini...
BACKGROUND AND OBJECTIVES Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent hereditary renal disease, characterized by cyst formation in the kidneys leading to end stage kidney failure. It is clinically acknowledged that ADPKD patients have impaired urine concentrating capacity, but the mechanism behind this observation is unknown. DESIGN, SETTING, PARTICIPANTS, & MEA...
Background: Autosomal dominant polycystic kidney disease (ADPKD) occurs in 1 500–4000 people worldwide. Genetic mutation is a biomarker for predicting renal dysfunction patients with ADPKD. In this study, we performed genetic analysis of Japanese ADPKD to investigate the prognostic utility mutations function outcomes. Methods: Patients clinically diagnosed underwent panel test germline PKD1 and...
BACKGROUND While the genetic basis of autosomal dominant polycystic kidney disease (ADPKD) has been clearly established, the pathogenesis of renal failure in ADPKD remains elusive. Cyst formation originates from proliferating renal tubular epithelial cells that de-differentiate. Fluid secretion with cyst expansion and reactive changes in the extracellular matrix composition combined with increa...
BACKGROUND Some 7-10% of patients on replacement renal therapy (RRT) are receiving it because of autosomal dominant polycystic kidney disease (ADPKD). The age at initiation of RRT is expected to increase over time. METHODS Clinical data of 1,586 patients (7.9%) with ADPKD and 18,447 (92.1%) patients with other nephropathies were analysed from 1984 through 2009 (1984-1991, 1992-1999 and 2000-2...
Fairly limited data reported the incidence and risk of cerebrovascular accident (CVA) in autosomal dominant polycystic kidney disease (ADPKD). Additionally, little is known regarding the therapeutic impact of renin-angiotensin-aldosterone system (RAAS) blockade and statin on reducing the occurrence of CVA in ADPKD. We utilized the data from Taiwan National Health Insurance Research Database (NH...
Exon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrate...
The aim of our study was to investigate an association between E23K KCNJ11 gene polymorphism with anthropometric, biochemical, beta-cell secretion and insulin sensitivity parameters among adult ADPKD patients with normal kidney function and no diagnosis of diabetes. The comparison of genotype-phenotype associations between ADPKD and non-ADPKD subjects could reveal a hypothetical mechanism of ge...
Although autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease, and is characterized by the formation of multiple fluid-filled cysts, which results in renal failure, early diagnosis and treatment of ADPKD have yet to be defined. Herein, we observed that the promoter region of the gene encoding mucin-like protocadherin (MUPCDH) was hypermethylated in the renal tissue o...
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