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polycystic kidney disease article review

Jonathan R Dillman, Andrew T Trout, Ethan A Smith, Alexander J Towbin
The purpose of this article is to review the hereditary renal cystic diseases that can manifest in children and adults, with specific attention to pathogenesis and imaging features. Various common and uncommon hereditary renal cystic diseases are reviewed in terms of their underlying etiology, including the involved genetic mutations and the affected proteins and cellular structures. Focus is placed on the morphologic findings in each condition and the features that distinguish one disorder from another. The two most common categories of hereditary renal cystic disease are (a) the ciliopathic disorders, which are related to mutations affecting the primary cilia (called "ciliopathies"), and (b) the phakomatoses...
May 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Zhe Chen, Meiqing Liu, Lanfang Li, Linxi Chen
Warburg effect, as an energy shift from mitochondrial oxidative phosphorylation to aerobic glycolysis, is extensively found in various cancers. Interestingly, increasing researchers show that Warburg effect plays a crucial role in non-tumor diseases. For instance, inhibition of Warburg effect can alleviate pulmonary vascular remodeling in the process of pulmonary hypertension. Interference of Warburg effect improves mitochondrial function and cardiac function in the process of cardiac hypertrophy and heart failure...
May 10, 2017: Journal of Cellular Physiology
Jessica Venugopal, Gustavo Blanco
Ouabain and other cardenolides are steroidal compounds originally discovered in plants. Cardenolides were first used as poisons, but after finding their beneficial cardiotonic effects, they were rapidly included in the medical pharmacopeia. The use of cardenolides to treat congestive heart failure remained empirical for centuries and only relatively recently, their mechanisms of action became better understood. A breakthrough came with the discovery that ouabain and other cardenolides exist as endogenous compounds that circulate in the bloodstream of mammals...
May 3, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
Chrysoula Argyrou, Demetrios Moris, Spyridon Vernadakis
BACKGROUND: The ideal timing of native nephrectomy in relation to kidney transplantation in patients with autosomal-dominant polycystic kidney disease (ADPKD) can be a very puzzling decision for transplant surgeons and remains a matter of debate. This review article aims to present current literature regarding this highly controversial issue. MATERIALS AND METHODS: The MEDLINE/PubMed database was searched using "polycystic kidney disease", "renal/kidney transplantation" and "native nephrectomy" as key words...
May 2017: In Vivo
Federico Cagnazzo, Carlo Gambacciani, Riccardo Morganti, Paolo Perrini
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder associated with high incidences of intracranial aneurysms. We performed a systematic review with the purpose of clarifying the prevalence, risk of rupture, and appropriate management of intracranial aneurysms in the ADPKD population. METHOD: PRISMA guidelines were followed. We conducted a comprehensive literature search of three databases (PubMed, Ovid MEDLINE, and Ovid EMBASE) on all series reporting ADPKD patients with intracranial aneurysms...
May 2017: Acta Neurochirurgica
Sudhindra Jayasimha
INTRODUCTION: Nanotechnology has revolutionized our approach to medical diagnostics as well as therapeutics and has spanned an entirely new branch of research. This review addresses the potential applications of Nanotechnology in Urology. This article is based on the Dr. Sitharaman Best Essay award of the Urological Society of India for 2016. METHODS: A PubMed search was performed for all relevant articles using the terms, "nanotechnology, nanoparticles, nanoshells, nanoscaffolds, and nanofibers...
January 2017: Indian Journal of Urology: IJU: Journal of the Urological Society of India
Norishi Ueda
Sphingolipids (SLs) regulate apoptosis, proliferation, and stress response. SLs, including ceramide, glycosphingolipids (glucosylceramide, lactosylceramide, and gangliosides) and sphingosine-1-phosphate (S1P), play a role in the pathogenesis and progression of genetic (lysosomal storage disease, congenital nephrotic syndrome and polycystic kidney disease) and non-genetic forms of chronic kidney diseases (CKDs). SLs metabolism defects promote complications (cardiovascular events, etc.) via oxidant stress in CKDs...
January 12, 2017: Current Medicinal Chemistry
Kumiko Kitajima, Yuichi Ogawa, Katsuyuki Miki, Kotaro Kai, Akihito Sannomiya, Kazuhiro Iwadoh, Toru Murakami, Ichiro Koyama, Ichiro Nakajima, Shohei Fuchinoue
Combined liver-kidney transplantation (CLKT) is well established as a definitive therapy with the potential to provide complete recovery for certain liver-kidney diseases, although the results might be contingent on the cause of transplantation. The purposes of the present study were to review the longterm outcome of renal allografts in CLKT patients from single living donors and to investigate the beneficial factors, compared with solitary renal transplantation. Thirteen patients underwent sequential liver transplantation (LT) and kidney transplantation (KT) from single living donors...
March 2017: Liver Transplantation
Becky Ness, Kathryn Stovall
Autosomal dominant polycystic kidney disease is the most common inherited kidney disease in the United States, causing hypertension, cerebral aneurysms, nephrolithiasis, and kidney failure. This article reviews the pathogenesis, diagnosis, associated complications, and current treatment recommendations for the condition.
December 2016: JAAPA: Official Journal of the American Academy of Physician Assistants
X Tillou, M-O Timsit, F Sallusto, T Culty, G Verhoest, A Doerfler, R Thuret, F Kleinclauss
OBJECTIVES: To perform a state of the art about autosomal dominant polykystic kidney disease (ADPKD), management of its urological complications and end stage renal disease treatment modalities. MATERIAL AND METHODS: An exhaustive systematic review of the scientific literature was performed in the Medline database ( and Embase ( using different associations of the following keywords (MESH): "autosomal dominant polykystic kidney disease", "complications", "native nephrectomy", "kidney transplantation"...
November 2016: Progrès en Urologie
Magdalena Nowak, Hubert Huras, Marcin Wiecheć, Robert Jach, Małgorzata Radoń-Pokracka, Joanna Górecka
Autosomal dominant polycystic kidney disease (ADPKD) is one of most common inherited renal diseases. It is estimated that very early onset ADPKD affects even 2% patients. The purpose of this article is to provide a comprehensive review of genetics, prenatal diagnosis and prognosis in very early onset autosomal dominant polycystic kidney disease.
2016: Ginekologia Polska
Sreenithya Ravindran, Vinitha Kuruvilla, Kerry Wilbur, Shankar Munusamy
Metformin, a well-known anti-diabetic agent, is very effective in lowering blood glucose in patients with type 2 diabetes with minimal side-effects. Metformin is also being recommended in the treatment of obesity and polycystic ovary syndrome. Metformin elicits its therapeutic effects mainly via activation of AMP-activated kinase (AMPK) pathway. Renal cells under hyperglycemic or proteinuric conditions exhibit inactivation of cell defense mechanisms such as AMPK and autophagy, and activation of pathologic pathways such as mammalian target of rapamycin (mTOR), endoplasmic reticulum (ER) stress, epithelial-to-mesenchymal transition (EMT), oxidative stress, and hypoxia...
April 2017: Journal of Cellular Physiology
Claudia Izzi, Francesca Liut, Nadia Dallera, Cinzia Mazza, Riccardo Magistroni, Gianfranco Savoldi, Francesco Scolari
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent genetic disease, characterized by progressive development of bilateral renal cysts. Two causative genes have been identified: PKD1 and PKD2. ADPKD phenotype is highly variable. Typically, ADPKD is an adult onset disease. However, occasionally, ADPKD manifests as very early onset disease. The phenotypic variability of ADPKD can be explained at three genetic levels: genic, allelic and gene modifier effects. Recent advances in molecular screening for PKD gene mutations and the introduction of the new next generation sequencing (NGS)- based genotyping approach have generated considerable improvement regarding the knowledge of genetic basis of ADPKD...
March 2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
Jin Ah Kim, Jon D Blumenfeld, Shalini Chhabra, Silvina P Dutruel, Nanda Deepa Thimmappa, Warren O Bobb, Stephanie Donahue, Hanna E Rennert, Adrian Y Tan, Ashley E Giambrone, Martin R Prince
Purpose To define the magnetic resonance (MR) imaging prevalence of pancreatic cysts in a cohort of patients with autosomal dominant polycystic kidney disease (ADPKD) compared with a control group without ADPKD that was matched for age, sex, and renal function. Materials and Methods In this HIPAA-compliant, institutional review board-approved study, all patients with ADPKD provided informed consent; for control subjects, informed consent was waived. Patients with ADPKD (n = 110) with mutations identified in PKD1 or PKD2 and control subjects without ADPKD or known pancreatic disease (n = 110) who were matched for age, sex, estimated glomerular filtration rate, and date of MR imaging examination were evaluated for pancreatic cysts by using axial and coronal single-shot fast spin-echo T2-weighted images obtained at 1...
September 2016: Radiology
Teresa X W Chua, Neha S Prasad, Gopala K Rangan, Margaret Allman-Farinelli, Anna M Rangan
BACKGROUND: Maintaining adequate fluid intake has been hypothesized to be beneficial for the progression of chronic kidney disease (CKD). The aim of this study was to undertake a systematic review to determine the most effective interventions to increase water intake. METHODS: Six electronic databases were searched from 1910 until March 2015 in the English language. Additional sources through hand-searches, expert recommendations and reviews were checked. Intervention studies increasing water intake in adults through non-pharmacological methods were eligible for inclusion...
October 2016: Nephrology
Patricia D Wilson
INTRODUCTION: Polycystic kidney disease (PKD) is a common genetic disease in which renal enlargement and loss of function is caused by progressive expansion of tubular cysts. To reverse the detrimental effects of PKD gene mutation(s) and to slow cystic expansion, new drug therapies are required. AREAS COVERED: The underlying cell biology leading to identification of molecular targets for PKD is reviewed. Specific focus is on studies published at the early pre-clinical level...
2016: Expert Opinion on Therapeutic Targets
Claire Woon, Ashleigh Bielinski-Bradbury, Karl O'Reilly, Paul Robinson
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterised by progressive renal cyst formation leading to renal failure in the majority of patients. The likelihood and rate of ADPKD progression is difficult to predict and there is a clear need to identify prognostic indicators that could be used to anticipate ADPKD progression, to aid the management of patients in clinical practice. METHODS: A systematic literature review was conducted to identify publications detailing the natural history of ADPKD, including diagnosis, prognosis and progression...
2015: BMC Nephrology
Ahsan Alam
PURPOSE OF REVIEW: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. This article will describe the factors associated with both functional and structural evidence of disease progression. It will also review the results of recent clinical trials that have shown an impact on markers of disease progression. RECENT FINDINGS: A variety of prognostic factors have been described that relate to a decline in glomerular filtration rate or an increase in total cyst or kidney volumes...
May 2015: Current Opinion in Nephrology and Hypertension
Riccardo Tamburrini, Zubir Ahmed, Jon van der Walt, David Goldsmith
A management algorithm for large renal cyst in autosomal dominant polycystic kidney disease (ADPKD) is lacking despite the potential to cause widespread medical and surgical complications. We report the case of a 37-year-old gentleman with ADPKD and large (>5 cm diameter) cysts who suffered sudden death due to autopsy-proven inferior vena cava and pulmonary arterial thrombosis. In this article, we discuss the possible pathophysiological factors at play in this catostrophic complication of ADPKD. We also review available literature to establish the prevalence of such a complication and also establish current thoughts and opinions as to the optimal management strategy for giant cysts in the context of ADPKD...
August 2016: Scottish Medical Journal
Wells B LaRiviere, Maria V Irazabal, Vicente E Torres
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by the progressive growth of renal cysts that, over time, destroy the architecture of the renal parenchyma and typically lead to kidney failure by the sixth decade of life. ADPKD is common and represents a leading cause of renal failure worldwide. Currently, there are no Food and Drug Administration-approved treatments for the disease, and the existing standard of care is primarily supportive in nature. However, significant advances in the understanding of the molecular biology of the disease have inspired investigation into potential new therapies...
April 2015: Translational Research: the Journal of Laboratory and Clinical Medicine
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