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autosomal dominant polycystic kidney

Youngwoo Kim, Sonu K Bae, Tianming Cheng, Cheng Tao, Yinghui Ge, Arlene B Chapman, Vincente E Torres, Alan S L Yu, Michal Mrug, William M Bennett, Michael F Flessner, Doug P Landsittel, Kyongtae T Bae
Liver and liver cyst volume measurements are important quantitative imaging biomarkers for assessment of disease progression in autosomal dominant polycystic kidney disease (ADPKD) and polycystic liver disease (PLD). To date, no study has presented automated segmentation and volumetric computation of liver and liver cysts in these populations. In this paper, we proposed an automated segmentation framework for liver and liver cysts from bounded abdominal MR images in patients with ADPKD. To model the shape and variations in ADPKD livers, the spatial prior probability map (SPPM) of liver location and the tissue prior probability maps (TPPMs) of liver parenchymal tissue intensity and cyst morphology were generated...
November 21, 2016: Physics in Medicine and Biology
Peter S Shen, Xiaoyong Yang, Paul G DeCaen, Xiaowen Liu, David Bulkley, David E Clapham, Erhu Cao
The Polycystic Kidney Disease 2 (Pkd2) gene is mutated in autosomal dominant polycystic kidney disease (ADPKD), one of the most common human monogenic disorders. Here, we present the cryo-EM structure of PKD2 in lipid bilayers at 3.0 Å resolution, which establishes PKD2 as a homotetrameric ion channel and provides insight into potential mechanisms for its activation. The PKD2 voltage-sensor domain retains two of four gating charges commonly found in those of voltage-gated ion channels. The PKD2 ion permeation pathway is constricted at the selectivity filter and near the cytoplasmic end of S6, suggesting that two gates regulate ion conduction...
October 20, 2016: Cell
Piergiorgio Messa, Carlo Maria Alfieri, Emanuele Montanari, Mariano Ferraresso, Roberta Cerutti
Autosomal dominant polycystic kidney disease (ADPKD) is the first genetic cause of end-stage renal disease (ESRD) and the number of these patients who are listed for or receive a kidney transplant (KTx) is continuously increasing over time. Hence, nephrologists are involved not only in the handling of ADPKD patients during the long course of the disease, but also in programming and performing a renal transplant. The handling of all these processes implies the complete awareness of a number of critical points related to the decisions to be taken both before and after the transplant intervention...
October 20, 2016: Journal of Nephrology
Giuseppe Dilorenzo, Michele Telegrafo, Giuseppe Marano, Michele De Ceglie, Amato Antonio Stabile Ianora, Giuseppe Angelelli, Marco Moschetta
Metastatic pulmonary calcification (MPC) is a rare pathological condition consisting of lung calcium salt deposits which commonly occurs in patients affected by chronic kidney disease probably for some abnormalities in calcium and phosphate metabolism. CT represents the technique of choice for detecting MPC findings including ground glass opacities and partially calcified nodules or consolidations. We present a case of MCP in a patient affected by hepato-renal autosomic-dominant polycystic disease; chest CT revealed extensive lobar-segmental parenchymal calcification with a peculiar cauliflower shape which we called "calcified cauliflower" sign...
2016: Respiratory Medicine Case Reports
Funda Sarı, Arzu Didem Yalçın, Gizem Esra Genç, Metin Sarıkaya, Atıl Bisgin, Ramazan Çetinkaya, Saadet Gümüşlü
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by multiple, large renal cysts and impaired kidney function. Although the reason for the development of kidney cysts is unknown, ADPKD is associated with cell cycle arrest and abundant apoptosis of renal tubular epithelial cells. AIMS: We asked whether serum-soluble TNF-related apoptosis-inducing ligand (sTRAIL) might underlie ADPKD. STUDY DESIGN: Case-control study...
September 2016: Balkan Medical Journal
Steven J Kleene, Nancy K Kleene
Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening monogenic renal disease. ADPKD results from mutations in either of two proteins: polycystin-1 (also known as PC1 or PKD1) or transient receptor potential cation channel, subfamily P, member 2 (TRPP2, also known as polycystin-2, PC2, or PKD2). Each of these proteins is expressed in the primary cilium that extends from many renal epithelial cells. Existing evidence suggests that the cilium can promote renal cystogenesis, while PC1 and TRPP2 counter this cystogenic effect...
October 19, 2016: American Journal of Physiology. Renal Physiology
Jamshid Roozbeh, Leila Malekmakan, Mohammad Mostafa Harifi, Taraneh Tadayon
OBJECTIVES: Autosomal dominant polycystic kidney disease is the most common hereditary disorder resulting in end-stage renal disease that can affect other organs besides kidneys. Extrarenal involvement may increase mortality and morbidity. Approximately 50% of patients with this disorder require renal transplant. Posttransplant complications have been reported to be equal in these patients versus other recipients. We conducted this study to determine and compare characteristics and outcomes of transplanted patients with this disease versus other recipients at the only transplant center in southern Iran...
October 14, 2016: Experimental and Clinical Transplantation
Gnanasambandan Ramanathan, Santu Ghosh, Ramprasad Elumalai, Soundararajan Periyasamy, Bhaskar V K S Lakkakula
BACKGROUND & OBJECTIVES: Autosomal dominant polycystic kidney disease (ADPKD) is an inherited systemic disorder, characterized by the fluid filled cysts in the kidneys leading to end stage renal failure in later years of life. Hypertension is one of the major factors independently contributing to the chronic kidney disease (CKD) progression. The renin-angiotensin aldosterone system (RAAS) genes have been extensively studied as hypertension candidate genes. The aim of the present study was to investigate the role of angiotensin converting enzyme tagging - single nucleotide polymorphisms (ACE tag-SNPs) in progression of CKD in patients with ADPKD...
June 2016: Indian Journal of Medical Research
Eiko Hasegawa, Naoki Sawa, Junichi Hoshino, Tatsuya Suwabe, Noriko Hayami, Masayuki Yamanouchi, Akinari Sekine, Rikako Hiramatsu, Aya Imafuku, Masahiro Kawada, Yoshifumi Ubara, Tsunao Imamura, Kenmei Takaichi
We herein present a rare case of an autosomal dominant polycystic kidney disease (ADPKD) patient with Caroli's disease, a congenital embryonic biliary tree ductal plate abnormality often associated with autosomal recessive polycystic kidney disease. A 76-year-old woman with ADPKD on hemodialysis was admitted to our hospital with recurrent cholangitis and hepatobiliary stones. Caroli's disease was diagnosed according to typical imaging findings of cystic intrahepatic bile duct dilatation and the central dot sign...
2016: Internal Medicine
Emma Hitchcock, William T Gibson
Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family...
October 14, 2016: Journal of Genetic Counseling
Monika Gradzik, Mariusz Niemczyk, Marek Gołębiowski, Leszek Pączek
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders caused by a single gene mutation. The disease usually manifests itself at the age of 30-40 years and is characterized by formation of renal cysts along with the enlargement of kidneys and deterioration of their function, eventually leading to renal insufficiency. Imaging studies (sonography, computed tomography, magnetic resonance imaging) play an important role in the diagnostics of the disease, the monitoring of its progression, and the detection of complications...
2016: Polish Journal of Radiology
Funda Sari, Ayca Inci, Suleyman Dolu, Hamit Yasar Ellidag, Ramazan Cetinkaya, Fettah Fevzi Ersoy
This study aims to determine fibroblast growth factor-23 and soluble α-Klotho levels in patients with autosomal dominant polycystic kidney disease. A total of 76 patients with autosomal dominant polycystic kidney disease and 32 healthy volunteers were included in the study. Serum fibroblast growth factor-23 and soluble α-Klotho levels were measured with ELISA kits. Parathyroid hormone, phosphate, calcium, creatinine, 25-hydroxyvitamin D3 levels, urinary protein to creatinine ratio and estimated glomerular filtration rate were also measured or calculated...
October 12, 2016: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
Hedwig M A D'Agnolo, Wietske Kievit, Kim N van Munster, Jouke J H Vd Laan, Frederik Nevens, Joost P H Drenth
BACKGROUND: Polycystic liver disease (PLD) is a rare genetic disorder with progressive cyst growth as the primary phenotype. Therapy consists of volume reduction through invasive surgical or radiological procedures. In order to understand the process of treatment decision, our aim was to identify factors that increased the likelihood of treatment. STUDY DESIGN: We performed a cross-sectional study using an international population of PLD patients. We collected data on the following therapies: liver transplantation, resection, fenestration and aspiration sclerotherapy...
October 12, 2016: Transplant International: Official Journal of the European Society for Organ Transplantation
Hyunsuk Kim, Young-Hwan Hwang
In light of the advances in the understanding of cystogenesis in clinical syndromes, potential therapeutic targets have been proposed. Among ciliopathies, autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary disease, and is characterized by the progressive enlargement of bilateral renal cysts, resulting in end-stage kidney failure. Progress in genetics and molecular pathobiology has enabled the development of therapeutic agents that can modulate aberrant molecular pathways. Recently, clinical trials using somatostatin analogs and vasopressin receptor antagonists were conducted, and resulted in the approval of tolvaptan in managing kidney disease in some countries...
2016: Advances in Experimental Medicine and Biology
Hayne Cho Park, Curie Ahn
Recently, newer treatments have been introduced for autosomal dominant polycystic kidney disease (ADPKD) patients. Since cysts grow and renal function declines over a long period of time, the evaluation of treatment effects in ADPKD has been very difficult. Therefore, there has been a great interest to find out the "better" surrogate marker or biomarker which reflects disease progression. Biomarkers in ADPKD should have three clinical implications: (1) They should reflect disease severity, (2) they should distinguish patients with poor versus good prognosis to select those who will benefit better from the treatment, and (3) they should be easy to evaluate short-term outcome after treatment, which will demonstrate hard outcome...
2016: Advances in Experimental Medicine and Biology
Yu Mi Woo
Epigenetic regulation refers to heritable changes in gene expression that do not involve any alteration of the DNA sequence. DNA methylation, histone modification, and gene regulation by microRNAs are well-known epigenetic modulations that are closely associated with several cellular processes and diverse disease states, such as cancers, even under precancerous conditions. More recently, several studies have indicated that epigenetic changes may be associated with renal cystic diseases, including autosomal dominant polycystic kidney disease, and the restoration of altered epigenetic factors may become a therapeutic target of renal cystic disease and would be expected to have minimal side effects...
2016: Advances in Experimental Medicine and Biology
Eun Ji Lee
Increased tubular epithelial cell proliferation with fluid secretion is a key hallmark of autosomal dominant polycystic kidney disease (ADPKD). With disruption of either PKD1 or PKD2, the main causative genes of ADPKD, intracellular calcium homeostasis and cAMP accumulation are disrupted, which in turn leads to altered signaling in the pathways that regulate cell proliferation. These dysregulations finally stimulate the development of fluid-filled cysts originating from abnormally proliferating renal tubular cells...
2016: Advances in Experimental Medicine and Biology
Do Yeon Kim, Jong Hoon Park
Autosomal dominant polycystic kidney disease is caused by mutation of PKD1 (polycystic kidney disease-1) or PKD2 (polycystic kidney disease-2). PKD1 and PKD2 encode PC1 (polycystin-1) and PC2 (polycystin-2), respectively. In addition, the mutation of cilia-associated proteins is also a recognized major factor of pathogenesis, since PC1 and PC2 are located in primary cilium. Abnormalities of PC1 or PC2 lead to aberrant signaling through downstream pathways, such as the negative growth regulation, G protein activation, and canonical and non-canonical Wnt pathways...
2016: Advances in Experimental Medicine and Biology
Yu Bin Shin, Jong Hoon Park
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common inherited disorders. It is the fourth leading cause of renal replacement and renal failure worldwide. Mutations in PKD1 or PKD2 cause ADPKD. Patients with ADPKD show progressive growth of renal cysts filled with cystic fluid, leading to end-stage renal disease (ESRD) and renal failure by their sixth decade of life. Currently, there are no curative treatments for ADPKD. Therefore, patients require dialysis or kidney transplantation...
2016: Advances in Experimental Medicine and Biology
Valentina Corradi, Fiorella Gastaldon, Carlotta Caprara, Anna Giuliani, Francesca Martino, Fiorenza Ferrari, Claudio Ronco
INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic diseases with a reported prevalence of 1:400 to 1:1000. Since the intact kidneys can compensate for the loss of glomerular filtration in ADPKD patients, renal insufficiency usually remains undetected until almost the fourth decade of life. Hereafter, reliable diagnostic and prognostic biomarkers to identify ADPKD progression are urgently needed. Several studies and systematic reviews tried to identify markers or predictors of rapid disease progression of ADPKD...
October 4, 2016: Minerva Medica
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