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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
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
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
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
Shiho Makabe, Toshio Mochizuki, Michihiro Mitobe, Yumi Aoyama, Hiroshi Kataoka, Ken Tsuchiya, Kosaku Nitta
BACKGROUND: In 2014, tolvaptan, a vasopressin receptor antagonist, was approved for the treatment of autosomal dominant polycystic kidney disease (ADPKD) in Japan. Clinical trials of tolvaptan revealed frequent occurrence of the liver function abnormality. According to the package insert in Japan, liver function tests should be performed once a month in patients receiving tolvaptan. Furthermore, immediate discontinuation of tolvaptan is recommended in the appearance of liver function abnormalities...
March 5, 2018: Clinical and Experimental Nephrology
Pablo Serrano Rodriguez, Alfred Sidney Barritt Iv, David Allen Gerber, Chirag Sureshchandra Desai
Patients with polycystic liver disease are described in the literature as both recipient and donor for liver transplant. Due to well-preserved liver function, it is often difficult for these patients to receive an organ. Livers of these patients are often large and heavier than a normal organ. We describe two cases who had exceedingly large livers, weighing 14 and 19 kg. To the best of our knowledge and search, these are some of the heaviest explanted livers, and one of the patients incidentally received a liver from a donor with ADPKD...
2018: Case Reports in Transplantation
Vasileios Raptis, Charalampos Loutradis, Pantelis A Sarafidis
Hypertension and progressive decline of renal function are among the common clinical manifestations in autosomal dominant polycystic kidney disease (ADPKD). At present, cyst formation in ADPKD patients is still considered the main pathogenic mechanism for the onset of these manifestations. However, the presence of polycystins in the vessels and the cilia of the endothelial cells and vascular smooth muscle cells, as well as development of hypertension prior to renal function decline and its prognostic role for the latter, indicate that polycystins may have an important role for endothelial damage in several vascular beds...
February 21, 2018: Nephrology, Dialysis, Transplantation
Cheng Xue, Chenchen Zhou, Changlin Mei
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney cysts resulting in damage to kidney structure and function. Yu et al. showed that height-adjusted total kidney volume (htTKV) was a significant independent predictor of ADPKD progression after a follow-up of 14.5 years. The genotype was not an independent prognostic factor after adjusting for htTKV. This commentary discusses several considerations in model comparison, biomarker validation, and future challenges in ADPKD research...
March 2018: Kidney International
Yubin Shin, Do Yeon Kim, Je Yeong Ko, Yu Mi Woo, Jong Hoon Park
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited disorders. ADPKD is caused by mutations in the gene encoding either polycystic kidney disease 1 ( PKD1) or polycystic kidney disease 2 ( PKD2). Patients with ADPKD show progressive growth of cystic fluid-filled renal cysts. Here, we used Pkd2f/f control mice and Pkd2f/f :HoxB7-Cre experimental mice, which are bred to have a conditional deletion of Pkd2 in the collecting ducts, and analyzed the expression pattern of microRNAs (miRNAs) of kidney tissues from Pkd2f/f and Pkd2f/f :HoxB7-Cre mice...
February 16, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Misun Kwak, Chansik Hong, Jongyun Myeong, Eunice Yon June Park, Ju-Hong Jeon, Insuk So
Hypertension and aneurysm are frequently associated with autosomal dominant polycystic kidney disease (ADPKD) caused by polycystin-1 (PC1) mutations, which is closely related to endothelial dysfunction. PC1 is an atypical G-protein-coupled receptor that activates G-proteins by self-cleavage; currently, however, the molecular and cellular mechanisms of the associated intracellular signaling and ion channel activation remain poorly elucidated. Here, we report an activation mechanism of a calcium-permeable canonical transient receptor potential 4 (TRPC4) channel by PC1 and its endothelial function...
February 22, 2018: Scientific Reports
Amrita Samanta, Taylor E T Hughes, Vera Y Moiseenkova-Bell
Transient Receptor Potential (TRP) channels are evolutionarily conserved integral membrane proteins. The mammalian TRP superfamily of ion channels consists of 28 cation permeable channels that are grouped into six subfamilies based on sequence homology (Fig. 6.1). The canonical TRP (TRPC) subfamily is known for containing the founding member of mammalian TRP channels. The vanilloid TRP (TRPV) subfamily has been extensively studied due to the heat sensitivity of its founding member. The melastatin-related TRP (TRPM) subfamily includes some of the few known bi-functional ion channels, which contain functional enzymatic domains...
2018: Sub-cellular Biochemistry
Jessica Idowu, Trisha Home, Nisha Patel, Brenda Magenheimer, Pamela V Tran, Robin L Maser, Christopher J Ward, James P Calvet, Darren P Wallace, Madhulika Sharma
Polycystic kidney disease (PKD) is a genetic disorder characterized by fluid-filled cysts in the kidney and liver that ultimately leads to end-stage renal disease. Currently there is no globally approved therapy for PKD. The Notch signaling pathway regulates cellular processes such as proliferation and de-differentiation, which are cellular hallmarks of PKD. Thus we hypothesized that the Notch pathway plays a critical role in PKD. Evaluation of protein expression of Notch signaling components in kidneys of Autosomal Recessive PKD (ARPKD) and Autosomal Dominant PKD (ADPKD) mouse models and of ADPKD patients revealed that Notch pathway members, particularly Notch3, were consistently upregulated or activated in cyst-lining epithelial cells...
February 20, 2018: Scientific Reports
Yashang Lee, Katrina Lehmann Blount, Feng Dai, Siobhan Thompson, Jonathan Kaufman Scher, Sherrie Bitterman, Madeline Droher, Erica L Herzog, Gilbert Moeckel, Anil Karihaloo, Neera K Dahl
BACKGROUND: Semaphorin 7A (SEMA7A) is an immunomodulating protein implicated in lung and liver fibrosis. In autosomal-dominant polycystic kidney disease (ADPKD), the progressive expansion of renal cysts, inflammation, and subsequent renal fibrosis leads to end-stage renal disease (ESRD). SEMA7A may play a role in renal fibrosis and in ADPKD. METHODS: We evaluated Sema7a in a mouse model of renal fibrosis and determined the expression of SEMA7A in human ADPKD kidney...
February 16, 2018: Clinical and Experimental Nephrology
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