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Polycystic kidney disease

A K Malik, R Filobbos, A Manoharan, N Harvey, D A O'Reilly, N de Liguori Carino
Angiomyxomas are uncommon myxoid tumours arising most commonly from the pelvis. A 46-year-old woman with a history of polycystic kidney disease presented asymptomatically for surveillance ultrasonography; changes were noted in the size and morphology of her liver cysts. Subsequent radiological assessment displayed features suspicious of malignancy and a right hemihepatectomy was performed with curative intent. Pathological examination of the resected specimen found histology consistent with an angiomyxoma arising primarily from the liver parenchyma...
March 15, 2018: Annals of the Royal College of Surgeons of England
Bernadette O Erokwu, Christian E Anderson, Chris A Flask, Katherine M Dell
BACKGROUND: Autosomal Recessive Polycystic Kidney Disease (ARPKD) is associated with significant mortality and morbidity and there are currently no disease-specific treatments available for ARPKD patients. One major limitation in establishing new therapies for ARPKD is a lack of sensitive measures of kidney disease progression. Magnetic Resonance Imaging (MRI) can provide multiple quantitative assessments of disease. METHODS: We applied quantitative image analysis of high resolution (non-contrast) T2-weighted MRI techniques to study cystic kidney disease progression and response to therapy in the PCK rat model of ARPKD...
March 14, 2018: Pediatric Research
Katy Billot, Charlène Coquil, Benoit Villiers, Béatrice Josselin-Foll, Nathalie Desban, Claire Delehouze, Nassima Oumata, Yannick Le Meur, Alessandra Boletta, Thomas Weimbs, Melanie Grosch, Ralph Witzgall, Sophie Saunier, Evelyne Fischer, Marco Pontoglio, Alain Fautrel, Michal Mrug, Darren Paul Wallace, Pamela V Tran, Marie Trudel, Nikolay O Bukanov, Oxana Ibraghimov-Beskrovnaya, Laurent Meijer
Following the discovery of (R)-roscovitine's beneficial effects in three polycystic kidney disease (PKD) mouse models, cyclin-dependent kinases (CDKs) inhibitors are investigated as potential treatments. We have used various affinity chromatography approaches to identify the molecular targets of roscovitine and its more potent analogue (S)-CR8 in human and murine polycystic kidneys. These methods revealed casein kinases 1 (CK1) as additional targets of the two drugs. CK1ε expression at the mRNA and protein levels is enhanced in polycystic kidneys of 11 different PKD mouse models, as well as in human polycystic kidneys...
March 14, 2018: American Journal of Physiology. Renal Physiology
Yu Iwashita, Shigeo Negi, Yuko Iwashita, Masaki Higashiura, Yusuke Shigi, Shintaro Yamanaka, Masaki Ohya, Toru Mima, Takashi Shigematsu
Renocolic fistula is rare. Renal cyst infection is a serious complication in patients with autosomal dominant polycystic kidney disease (ADPKD). We present a case of refractory renal cyst infection due to renocolic fistula in a patient with ADPKD. A 65-year-old man with ADPKD on hemodialysis visited our hospital with complaints of fever and left abdominal pain. We diagnosed renal cyst infection with abdominal computed tomography scans. After hospitalization, gas shadow was observed in the left renal cyst. Percutaneous puncture of the cyst was performed...
March 14, 2018: CEN Case Reports
Miguel Fontecha-Barriuso, Diego Martin-Sanchez, Olga Ruiz-Andres, Jonay Poveda, Maria Dolores Sanchez-Niño, Lara Valiño-Rivas, Marta Ruiz-Ortega, Alberto Ortiz, Ana Belén Sanz
Epigenetics refers to heritable changes in gene expression patterns not caused by an altered nucleotide sequence, and includes non-coding RNAs and covalent modifications of DNA and histones. This review focuses on functional evidence for the involvement of DNA and histone epigenetic modifications in the pathogenesis of kidney disease and the potential therapeutic implications. There is evidence of activation of epigenetic regulatory mechanisms in acute kidney injury (AKI), chronic kidney disease (CKD) and the AKI-to-CKD transition of diverse aetiologies, including ischaemia-reperfusion injury, nephrotoxicity, ureteral obstruction, diabetes, glomerulonephritis and polycystic kidney disease...
March 9, 2018: Nephrology, Dialysis, Transplantation
Bo Zhang, Uyen Tran, Oliver Wessely
The development of the kidney relies on the establishment and maintenance of a precise tubular diameter of its functional units, the nephrons. This process is disrupted in Polycystic Kidney Disease (PKD) resulting in dilations of the nephron and renal cyst formation. In the course of exploring G-protein coupled signaling in the Xenopus pronephric kidney we discovered that loss of the G-protein alpha subunit Gnas results in a PKD phenotype. Polycystin-1, one of the genes mutated in human PKD, encodes for a protein resembling a G-protein coupled receptor...
March 12, 2018: Development
Yoko Kaneko, Takamoto Yanagawa, Yoshinori Taru, Sonoko Hayashi, Hong Zhang, Tomoki Tsukahara, Tsuneaki Matsunaga, Takashi Ishizu
INTRODUCTION: We describe a hemodialysis patient who developed subclavian steal syndrome via an arteriovenous fistula after percutaneous transluminal angioplasty. CASE DESCRIPTION: A 55-year-old female with end-stage renal failure due to polycystic kidney disease had been treated with hemodialysis for 10 years. Because of an autologous arteriovenous fistula stenosis, percutaneous transluminal angioplasty was performed. After successful treatment with percutaneous transluminal angioplasty, the patient developed dizziness...
March 1, 2018: Journal of Vascular Access
Dechao Xu, Yiyi Ma, Xiangchen Gu, Rongrong Bian, Yunhui Lu, Xiaohong Xing, Changlin Mei
BACKGROUND/AIMS: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder with mutations in PKD1 or PKD2. This study aimed to identify novel PKD1 and PKD2 mutations in Chinese patients with ADPKD. METHODS: Mutational analyses of both PKD genes were performed in 120 Chinese families with inherited ADPKD using long-range PCR and targeted next-generation sequencing approaches. Sanger sequencing was performed to check the positive mutations, while multiplex ligation-dependent probe amplification was adopted to examine those without mutations for the presence of large deletions...
March 6, 2018: Kidney & Blood Pressure Research
Dechao Xu, Jiayi Lv, Liangliang He, Lili Fu, Ruikun Hu, Ying Cao, Changlin Mei
Polarity complexes, including the PAR (Partitioning-defective), CRB (Crumbs) and SCRIB (Scribble) complexes, are required for the physiologic establishment, stabilization, and maintenance of a functional apical-basolateral polarity. Inactivation of some of the polarity complexes results in cystic kidneys, and apical-basolateral polarity defects are commonly observed in autosomal-dominant polycystic kidney disease (ADPKD); however, little is known about the role that polarity complexes play in ADPKD. Here, we demonstrate that Scribble, a core protein of the SCRIB complex, is down-regulated in ADPKD cell lines and the zebrafish model of this disease ( pkd2 morphants)...
March 12, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Nik R Mazumder, Stuart D Russell, Aliaksei Pustavoitau, Matthews Chacko, Nicole Rizkalla, Behnam Saberi, Benjamin Philosophe, Andrew M Cameron, Ahmet Gurakar, Fizza F Naqvi
OBJECTIVES: Liver transplant and simultaneous liver-kidney transplant are major surgeries performed on high-risk individuals with end-stage liver disease and end-stage renal disease. We sought to examine the relationship between pretransplant echocardiographic parameters and outcomes in our simultaneous liver-kidney transplant and liver transplant-alone populations. MATERIALS AND METHODS: In our retrospective analysis, we included adult patients who underwent index transplant from January 1, 2010 to December 31, 2015 at Johns Hopkins Comprehensive Transplant Center...
March 2018: Experimental and Clinical Transplantation
Ran Nagar, Sharon Perlman, Or Yariv, Zvi Kivilevich, Benjamin Dekel, Reuven Achiron, Yinon Gilboa
BACKGROUND: Sonographic assessment of the fetal kidneys is an integral part of the prenatal anatomical survey. OBJECTIVES: To evaluate the fetal renal to abdominal (RTA) ratio throughout pregnancy and to investigate whether this ratio can be a potential diagnostic landmark for congenital anomalies of the kidney and urinary tract (CAKUT). METHODS: Measurements of the anterior-posterior diameters of the fetal kidney and fetal abdomen (APAD) were obtained prospectively...
March 2018: Israel Medical Association Journal: IMAJ
Katarína Skalická, Gabriela Hrčková, Anita Vaská, Ágnes Baranyaiová, László Kovács
AIM: To evaluate the genetic defects of ciliary genes causing the loss of primary cilium in autosomal dominant polycystic kidney disease (ADPKD). METHODS: We analyzed 191 structural and functional genes of the primary cilium using next-generation sequencing analysis. We analyzed the kidney samples, which were obtained from 7 patients with ADPKD who underwent nephrectomy. Each sample contained polycystic kidney tissue and matched normal kidney tissue. RESULTS: In our study, we identified genetic defects in the 5 to 15 genes in each ADPKD sample...
March 6, 2018: World Journal of Nephrology
Moomal Tasneem, Carly Mannix, Annette Wong, Jennifer Zhang, Gopala Rangan
The availability of disease-modifying drugs for the management of autosomal dominant polycystic kidney disease (ADPKD) has accelerated the need to accurately predict renal prognosis and/or treatment response in this condition. Arginine vasopressin (AVP) is a critical determinant of postnatal kidney cyst growth in ADPKD. Copeptin (the C-terminal glycoprotein of the precursor AVP peptide) is an accurate surrogate marker of AVP release that is stable and easily measured by immunoassay. Cohort studies show that serum copeptin is correlated with disease severity in ADPKD, and predicts future renal events [decline in renal function and increase in total kidney volume (TKV)]...
March 6, 2018: World Journal of Nephrology
Rattikarn Noitem, Chaowalit Yuajit, Sunhapas Soodvilai, Chatchai Muanprasat, Varanuj Chatsudthipong
Overexpression of aquaporin 2 (AQP2) was observed and suggested to be involved in fluid secretion leading to cyst enlargement in polycystic kidney disease (PKD). The cyst expansion deteriorates the renal function and, therefore, therapies targeting cyst enlargement are of clinical interest. Of note, inhibition of vasopressin function using vasopressin 2 receptor (V2R) antagonist which decreased cAMP production along with AQP2 production and function can slow cyst growth in ADPKD. This finding supports the role of AQP2 in cyst enlargement...
March 7, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
T Fujimaru, T Mori, A Sekine, S Mandai, M Chiga, H Kikuchi, F Ando, Y Mori, N Nomura, S Iimori, S Naito, T Okado, T Rai, J Hoshino, Y Ubara, S Uchida, E Sohara
Distinguishing autosomal dominant polycystic kidney disease (ADPKD) from other inherited renal cystic diseases in patients with adult polycystic kidney disease and no family history is critical for correct treatment and appropriate genetic counseling. However, for patients with no family history, there are no definitive imaging findings that provide an unequivocal ADPKD diagnosis. We analyzed 53 adult polycystic kidney disease patients with no family history. Comprehensive genetic testing was performed using capture-based next-generation sequencing for 69 genes currently known to cause hereditary renal cystic diseases including ADPKD...
March 9, 2018: Clinical Genetics
Filip Thieme, Jiri Fronek
INTRODUCTION: Polycystic liver disease is observed in 75-90% of patients with autosomal dominant polycystic kidney disease (ADPKD). ADPKD has a high prevalence of 1/1000. Hepatomegaly severely reduces quality of life and liver transplantation seems to be method of choice for many patients. Because of the rarity of this disease and the small number of symptomatic patients with massive hepatomegaly indicated for the transplantation, there is no standard approach for explantation of the liver...
January 8, 2018: International Journal of Surgery Case Reports
Alfredo Criollo, Francisco Altamirano, Zully Pedrozo, Gabriele G Schiattarella, Dan L Li, Pablo Rivera-Mejías, Cristian Sotomayor-Flores, Valentina Parra, Elisa Villalobos, Pavan K Battiprolu, Nan Jiang, Herman I May, Eugenia Morselli, Stefan Somlo, Humberto de Smedt, Thomas G Gillette, Sergio Lavandero, Joseph A Hill
AIMS: Considerable evidence points to critical roles of intracellular Ca2+ homeostasis in the modulation and control of autophagic activity. Yet, underlying molecular mechanisms remain unknown. Mutations in the gene (pkd2) encoding polycystin-2 (PC2) are associated with autosomal dominant polycystic kidney disease (ADPKD), the most common inherited nephropathy. PC2 has been associated with impaired Ca2+ handling in cardiomyocytes and indirect evidence suggests that this protein may be involved in autophagic control...
March 5, 2018: Journal of Molecular and Cellular Cardiology
Ao Li, Yuchen Xu, Song Fan, Jialin Meng, Xufeng Shen, Qian Xiao, Yuan Li, Li Zhang, Xiansheng Zhang, Guanqing Wu, Chaozhao Liang, Dianqing Wu
Autosomal dominant polycystic kidney disease (ADPKD) can be caused by mutations in the PKD1 or PKD2 genes. The PKD1 gene product is a Wnt cell-surface receptor. We previously showed that a lack of the PKD2 gene product, PC2, increases β-catenin signaling in mouse embryonic fibroblasts, kidney renal epithelia, and isolated renal collecting duct cells. However, it remains unclear whether β-catenin signaling plays a role in polycystic kidney disease phenotypes or if a Wnt inhibitor can halt cyst formation in ADPKD disease models...
March 8, 2018: JCI Insight
Ying Jing, Ming Wu, Di Zhang, Dongping Chen, Ming Yang, Shuqin Mei, Liangliang He, Junhui Gu, Na Qi, Lili Fu, Lin Li, Changlin Mei
OBJECTIVES: The aim of our current study was to investigate the long-term effect and the mechanism of triptolide in an adult non-orthologous rat model of polycystic kidney disease (PKD), and study the effect of triptolide on the mitogenic JAK2/STAT3 pathway.. METHODS: Male wild type (WT+/+) and Cy/+ cystic Han:SPRD rats were treated with vehicle or triptolide from week 44 weeks to week 16 weeks of age. Rats were sacrificed at 16 weeks of age 16 for the blood, urine and organ collection...
March 7, 2018: American Journal of Physiology. Renal Physiology
Erin E Olsan, Jonathan D West, Jacob A Torres, Nicholas Doerr, Thomas Weimbs
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a life-threatening, highly prevalent monogenic disease caused by mutations in polycystin-1 (PC1) in 85% of patients. We have previously identified a C-terminal cleavage fragment of PC1, PC1-p30, that interacts with the transcription factor STAT6 to promote transcription. STAT6 is aberrantly active in PKD mouse models and human ADPKD, and genetic removal or pharmacological inhibition of STAT6 attenuates disease progression. High levels of interleukin-13 (IL13), a STAT6 activating cytokine, are found in the cyst fluid of PKD mouse models and increased IL13 receptors in ADPKD patient tissue suggesting that a positive feedback loop between IL13 and STAT6 is activated in cystic epithelial cells and contributes to disease progression...
March 7, 2018: American Journal of Physiology. Renal Physiology
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