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Autosomal dominant polycystic kidney disease is the most prevalent inherited kidney disease and leads to bilateral kidney enlargement and progressive loss of renal function, often over decades. Comorbidities include hypertension, flank pain, and bacterial infections. The condition often necessitates prolonged multidrug therapy.
Annika C. Tillmann+6 more
wiley +1 more source
Structural and molecular basis of the assembly of the TRPP2/PKD1 complex [PDF]
Mutations in PKD1 and TRPP2 account for nearly all cases of autosomal dominant polycystic kidney disease (ADPKD). These 2 proteins form a receptor/ion channel complex on the cell surface. Using a combination of biochemistry, crystallography, and a single-
Buraei, Z.+8 more
core +3 more sources
Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development
Abstract Cilia are specialized structures found on a variety of mammalian cells, with variable roles in the transduction of mechanical and biological signals (by primary cilia, PC), as well as in the generation of fluid flow (by motile cilia). Their critical role in the establishment of a left–right axis in early development is well described, as well ...
Stephen Spurgin+8 more
wiley +1 more source
Interrupted Aortic Arch in an Adult with Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and is responsible for 8–10% of patients with end-stage renal failure.
Ayşe Şeker Koçkara+4 more
doaj +1 more source
Chinese clinical practice guide for autosomal dominant polycystic kidney disease
常染色体显性多囊肾病(autosomal dominant polycystic kidney disease, ADPKD)是最常见的遗传性肾病,患病率为1/400~1/1000[1]。ADPKD主要致病基因有两个,PKD1和PKD2,其突变导致疾病分别约占发病人群的85%和15%[2-3]。该病为常染色体显性遗传病,子代发病机率为50%。患者多在成年后出现双侧肾脏囊肿,随年龄增长,逐渐损害肾脏结构和功能[4 ...
Expert Committee on Clinical Practice Guidelines for Autosomal Dominant Polycystic Kidney Disease
doaj
Polycystic kidney disease (Autosomal Dominant Polycystic Kidney Disease, ADPKD) is the most common genetic disease of the kidney, and the measurement of Total Kidney Volume (TKV) in clinical research of this disease is essential to study the progression ...
Haoyang Cui+11 more
doaj +1 more source
MicroRNAs and Polycystic Kidney Disease [PDF]
Polycystic kidney disease (PKD), the most common genetic cause of chronic renal failure, is characterized by the presence of numerous fluid-filled cysts in renal parenchyma. Despite recent progress, no FDA-approved therapy is available to retard cyst growth.
Ronak Lakhia+2 more
openaire +4 more sources
Genetic linkage study of family members of a patient with adult polycystic kidney disease [PDF]
OBJECTIVE. To study the feasibility of making an early diagnosis of adult polycystic kidney disease by using genetic linkage analysis in Hong Kong. DESIGN. Genetic linkage study. SETTING. University teaching hospital, Hong Kong. PARTICIPANTS.
Chan, DTM+4 more
core
Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its delivery. [PDF]
Many families experience difficulty in talking about an inherited genetic condition that affects one or more of them. There have now been a number of studies identifying the issues in detail, however few have developed interventions to assist families ...
A McConkie-Rosell+52 more
core +4 more sources
Abstract Objective This study evaluates postoperative outcomes of patients with kidney failure on chronic kidney replacement therapy after gynecological surgery. Methods This binational data‐linkage study identified patients with kidney failure via the Australia and New Zealand Dialysis and Transplant Registry who underwent major gynecological ...
Mina Khair+6 more
wiley +1 more source