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Hum Genet 2019 Feb 18. Epub 2019 Feb 18.

Division of Nephrology, Department of Medicine, Harvard Medical School, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.

Nephrolithiasis (NL) affects 1 in 11 individuals worldwide and causes significant patient morbidity. We previously demonstrated a genetic cause of NL can be identified in 11-29% of pre-dominantly American and European stone formers. Pakistan, which resides within the Afro-Asian stone belt, has a high prevalence of nephrolithiasis (12%) as well as high rate of consanguinity (> 50%). Read More

Sci Rep 2019 Feb 18;9(1):2225. Epub 2019 Feb 18.

Mosaiques Diagnostics GmbH, Hannover, Germany.

Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for the transcriptional factor hepatocyte nuclear factor-1B. RCAD is characterized as a multi-organ disease, with a broad spectrum of symptoms including kidney abnormalities (renal cysts, renal hypodysplasia, single kidney, horseshoe kidneys, hydronephrosis), early-onset diabetes mellitus, abnormal liver function, pancreatic hypoplasia and genital tract malformations. In the present study, using capillary electrophoresis coupled to mass spectrometry (CE-MS), we investigated the urinary proteome of a pediatric cohort of RCAD patients and different controls to identify peptide biomarkers and obtain further insights into the pathophysiology of this disorder. Read More

Radiology 2019 Feb 19:181399. Epub 2019 Feb 19.

From the Departments of Radiology and Biomedical Imaging (A.M., X.W., C.C.M., H.P.F.), Neurosurgery (C.C.M.), Economics (H.P.F.), Management (H.P.F.), and Public Health (H.P.F.), Yale School of Medicine, 333 Cedar St, Box 208042, Tompkins East 2, New Haven, CT 06520-8042; Department of Radiology, University of Maryland School of Medicine, Baltimore, Md (D.G.); and Department of Radiology, Northwell Health, Manhasset, NY (P.S.).

Background Autosomal dominant polycystic kidney disease (ADPKD) affects one in 400 to one in 1000 individuals; 10%-11% of these individuals have intracranial aneurysms. The frequency and patterns of screening for intracranial aneurysms have not been defined. Purpose To evaluate different MR angiography screening and surveillance strategies for unruptured intracranial aneurysms in patients with ADPKD. Read More

FASEB J 2019 Feb 15:fj201801338RRR. Epub 2019 Feb 15.

Department of Pharmacology, School of Basic Medical Sciences, Peking University, Beijing, China.

Human autosomal dominant polycystic kidney disease (ADPKD) is characterized by bilateral renal cysts that lead to a decline in kidney function. Previous studies reported aquaporin (AQP)-3 expression in cysts derived from collecting ducts in ADPKD. To study the role of AQP3 in cyst development, we generated 2 polycystic kidney disease (PKD) mouse models: kidney-specific Pkd1 knockout mice and inducible Pkd1 knockout mice, each without and with AQP3 deletion. Read More

BMC Nephrol 2019 Feb 14;20(1):55. Epub 2019 Feb 14.

Section of Nephrology, Yale University School of Medicine, New Haven, CT, 06520, USA.

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) affects all races. Whether the progression of ADPKD varies by race remains unclear.

Methods: In this retrospective cohort study from 2004 to 2013 non-Hispanic blacks and non-Hispanic whites of all ages classified in the US Renal Data System (USRDS) with incident ESRD from ADPKD (n = 23,647), hypertension/large vessel disease (n = 296,352), or diabetes mellitus (n = 451,760) were stratified into five-year age categories ranging from < 40 to > 75 (e. Read More

Sci Rep 2019 Feb 13;9(1):1920. Epub 2019 Feb 13.

Dallas, Univ Texas Southwestern Med Ctr, 5323 Harry Hines Blvd., F5.206, Dallas, 75390-8856, Texas, USA.

Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic cause of renal failure. We have recently shown that inhibiting miR-17~92 is a potential novel therapeutic approach for ADPKD. However, miR-17~92 is a polycistronic cluster that encodes microRNAs (miRNAs) belonging to the miR-17, miR-18, miR-19 and miR-25 families, and the relative pathogenic contribution of these miRNA families to ADPKD progression is unknown. Read More

F1000Res 2019 29;8. Epub 2019 Jan 29.

Inherited Renal Disorders, Nephrology Department, Fundació Puigvert, REDINREN, IIB Sant Pau, Universitat Autònoma de Barcelona, Barcelona, 08025, Spain.

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic systemic disorder causing the development of renal and hepatic cysts and decline in renal function. It affects around 1 in 1,000 live births. Early hypertension and progressive renal failure due to massive enlargement of cysts and fibrosis are hallmarks of the disease. Read More

Clin Kidney J 2019 Feb 29;12(1):71-77. Epub 2018 Aug 29.

Mayo Clinic, Rochester, MN, USA.

Background: The ability of unstandardized methods to track kidney growth in clinical trials for autosomal dominant polycystic kidney disease (ADPKD) has not been critically evaluated.

Methods: The Tolvaptan Efficacy and Safety Management of ADPKD and its Outcomes (TEMPO) 3:4 study involved baseline and annual magnetic resonance follow-up imaging yearly for 3 years. Total kidney volume (TKV) measurements were performed on these four time points in addition to the baseline imaging in TEMPO 4:4, initially by Perceptive Informatics (Waltham, MA, USA) using planimetry (original dataset) and for this study by the Mayo Translational PKD Center using semiautomated and complementary automated methods (sequential dataset). Read More

J Am Soc Nephrol 2019 Feb 11. Epub 2019 Feb 11.

Departments of Internal Medicine and

Background: encodes a resident protein in the endoplasmic reticulum membrane that, when mutated, causes human autosomal dominant polycystic liver disease. Selective inactivation of in all distal nephron segments in embryonic mouse kidney results in polycystin-1-mediated polycystic kidney disease (PKD). It also activates the Ire1-Xbp1 branch of the unfolded protein response, producing Xbp1s, the active transcription factor promoting expression of specific genes to alleviate endoplasmic reticulum stress. Read More

Mol Med Rep 2019 Jan 31. Epub 2019 Jan 31.

Laboratory of Medical Genetics, Harbin Medical University, Harbin, Heilongjiang 150081, P.R. China.

Polycystic kidney disease (PKD) is a life‑threatening inherited disease with a morbidity of 1:500‑1,000 worldwide. Numerous progressively enlarging cysts are observed in the bilateral kidneys of patients with PKD, inducing structural damage and loss of kidney function. The present study analyzed one family with PKD. Read More

Indian J Pathol Microbiol 2019 Jan-Mar;62(1):95-98

Department of Pathology, IPGME and R, Kolkata, West Bengal, India.

Glomerulocystic kidney disease (GCKD) is an uncommon type of cystic renal disease affecting children. It has both sporadic and familial occurrence and is characterized by cortical microcysts associated with dilatation of Bowman's spaces. In some instances, GCKD is an early manifestation of autosomal dominant polycystic kidney disease. Read More

Drugs 2019 Jan 28. Epub 2019 Jan 28.

Springer, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.

Tolvaptan [Jynarque (USA); Jinarc (EU, Canada); Samsca (Japan)] is a highly selective vasopressin V receptor antagonist approved for the treatment of autosomal dominant polycystic kidney disease (ADPKD). In the phase III TEMPO 3:4 trial, 3 years' treatment with tolvaptan slowed the increase in total kidney volume (TKV) and the decline in renal function relative to placebo. The composite secondary endpoint of time to investigator-assessed clinical progression also favoured tolvaptan over placebo. Read More

J Ren Nutr 2019 Jan 22. Epub 2019 Jan 22.

Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan R.O.C; Division of Nephrology, Department of Internal Medicine, Taipei Medical University-Shuang Ho Hospital, New Taipei City, Taiwan. Electronic address:

Objective: Iron supplementation and erythropoietin stimulating agents (ESAs) are essential for maintaining hemoglobin levels in hemodialysis patients. However, patients with autosomal-dominant polycystic kidney disease (PKD) have higher endogenous erythropoietin levels, so their recommended iron indices for hemodialysis patients may differ. This study evaluated iron profiles, including ferritin levels and transferrin saturation (TSAT) to identify factors affecting mortality in patients on dialysis, and those associated with mortality in patients with and without PKD. Read More

Adv Healthc Mater 2019 Jan 23:e1801358. Epub 2019 Jan 23.

Department of Chemistry, Chinese Culture University, 55, Hwa-Kang Road, Yang-Ming-Shan, Taipei, 11114, Taiwan.

There is currently no cure for gene mutation-caused autosomal dominant polycystic kidney disease (ADPKD). Over half of patients with ADPKD eventually develop kidney failure, requiring dialysis or kidney transplantation. Current treatment modalities for ADPKD focus on reducing morbidity and mortality from renal and extrarenal complications of the disease. Read More

J Nephrol 2019 Jan 22. Epub 2019 Jan 22.

Department of Food and Human Nutritional Sciences, University of Manitoba, Winnipeg, Canada.

Background: Increased levels of cyclooxygenase (COX) derived oxylipins is the earliest and most consistent alteration in the renal oxylipin profile in diverse models of cystic kidney diseases. Therefore, we examined whether a COX2 inhibitor would reduce disease progression in the Pkd2 mouse model of autosomal dominant polycystic kidney disease (ADPKD).

Methods: Weanling normal and diseased male Pkd2 mice were provided diets that provided 0 or 50 mg celecoxib/kg body weight/day, for 13 weeks. Read More

Eur Radiol 2019 Jan 21. Epub 2019 Jan 21.

Kidney Genetics Group, Academic Unit of Nephrology, Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield, Sheffield, UK.

Objectives: To develop a high-performance, rapid semi-automated method (Sheffield TKV Tool) for measuring total kidney volume (TKV) from magnetic resonance images (MRI) in patients with autosomal dominant polycystic kidney disease (ADPKD).

Methods: TKV was initially measured in 61 patients with ADPKD using the Sheffield TKV Tool and its performance compared to manual segmentation and other published methods (ellipsoidal, mid-slice, MIROS). It was then validated using an external dataset of MRI scans from 65 patients with ADPKD. Read More

Kidney Int 2019 Feb;95(2):412-419

KU Leuven Department of Microbiology and Immunology, Laboratory of Nephrology; University Hospitals Leuven, Department of Nephrology, Leuven, Belgium.

Autosomal dominant polycystic kidney disease (ADPKD) is among the most common hereditary nephropathies. Low bone turnover osteopenia has been reported in mice with conditional deletion of the PKD1 and PKD2 genes in osteoblasts, and preliminary clinical data also suggest suppressed bone turnover in patients with ADPKD. The present study compared the bone phenotype between patients with end stage renal disease (ESRD) due to ADPKD and controls with ESRD due to other causes. Read More

Kidney Int 2019 Feb;95(2):261-263

Department of Medicine Renal Division Washington University School of Medicine, Saint Louis, Missouri, USA; Department of Cell Biology, Washington University School of Medicine, Saint Louis, Missouri, USA.

In an ancillary analysis of cross-sectional observational studies of bone health in end-stage kidney disease (ESKD), Evenepoel et al. reported that subjects with autosomal-dominant polycystic kidney disease (ADPKD) had a unique phenotype in their renal osteodystrophy. ADPKD caused resistance to parathyroid hormone (PTH) producing lower turnover states and preservation of cortical bone mineral density. Read More

Nephrology (Carlton) 2019 Jan 20. Epub 2019 Jan 20.

Sydney School of Public Health, The University of Sydney, Sydney, Australia.

Aim: Patients with autosomal dominant polycystic kidney disease (ADPKD) are at increased risk of premature mortality, morbidities and complications, which severely impair quality of life. However, patient-centred outcomes are not consistently reported in trials in ADPKD, which can limit shared decision-making. We aimed to identify outcomes important to patients and caregivers and the reasons for their priorities. Read More

Int J Med Sci 2019 1;16(1):180-188. Epub 2019 Jan 1.

Division of Nephrology, Huashan Hospital, Fudan University, Shanghai, China.

Autosomal dominant polycystic kidney disease is one of the most common genetic renal diseases. Cyclooxygenase plays an important role in epithelial cell proliferation and may contribute to the mechanisms underlying cyst formation. The aim of the present study was to evaluate the role of cyclooxygenase inhibition in the cyst progression in polycystic kidney disease. Read More

J Radiol Case Rep 2018 Sep 30;12(9):1-8. Epub 2018 Sep 30.

Department of Radiology, Ackershus University hospital, lorenskog, Norway.

Intra-cranial saccular aneurysms, also known as Berry aneurysms, have a well-known association with autosomal dominant polycystic kidney disease (ADPKD). Aneurysmal rupture can be the initial presentation of the disease. ADPKD has two types of gene mutations: PKD1 and PKD2. Read More

Exp Ther Med 2019 Jan 9;17(1):507-511. Epub 2018 Nov 9.

Department of Urology, The First Affiliated Hospital of Anhui Medical University and Institute of Urology, Anhui Medical University, Hefei, Anhui 230022, P.R. China.

Autosomal dominant polycystic kidney disease (ADPKD) is primarily caused by mutations in polycystin 1, transient receptor potential channel interacting (PKD1) and PKD2, and characterized by numerous cysts in various organs, primarily the kidneys and liver. The present case report is on a 33-year-old Chinese male patient who suffered from abdominal pain and hypertension, and presented with long-term infertility. Laboratory tests indicated that the patient had a normal renal function, while abdominal computed tomography demonstrated that the patient had enlarged kidneys with a volume of 1,127. Read More

Indian J Nephrol 2018 Nov-Dec;28(6):482-484

Molecular Genetics Laboratory, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Autosomal dominant polycystic kidney disease is characterized by multiple cysts in both kidneys manifesting in adult life. In general, the disorder is caused by a pathogenic variant in one allele of or genes, while the other allele is normal. Pathogenic variants in both the alleles are rare and have variable phenotypes, from lethal or perinatal presentation to a mild form in later adulthood, depending on the type of variant. Read More

J Cell Physiol 2019 Jan 15. Epub 2019 Jan 15.

Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran.

Autosomal dominant polycystic kidney disease (ADPKD) is a monogenic inherited renal cystic disease that occurs in different races worldwide. It is characterized by the development of a multitude of renal cysts, which leads to massive enlargement of the kidney and often to renal failure in adulthood. ADPKD is caused by a mutation in PKD1 or PKD2 genes encoding the proteins polycystin-1 and polycystin-2, respectively. Read More

Surg Case Rep 2019 Jan 14;5(1). Epub 2019 Jan 14.

Department of Thoracic Surgery, Tokyo Women's Medical University, 8-1, Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan.

Background: Pneumothorax during surgery under general anesthesia is a life-threatening situation for the patient because it can progress easily to the tension pneumothorax due to positive pressure ventilation unless appropriate treatments such as inserting a drainage tube in the thoracic cavity are initiated. The authors experienced a case of intraoperative pneumothorax and the diffuse dissection of visceral pleura during liver transplantation surgery, and achieved successful repair by a trans-diaphragmatic approach without changing patient's body position.

Case Presentation: A 66-year-old male with multiple liver and renal cysts caused by autosomal dominant polycystic kidney disease (ADPKD) was admitted to the authors' hospital for treating the infection of the liver cysts. Read More

EBioMedicine 2019 Jan 11. Epub 2019 Jan 11.

Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan; Cellular and Molecular Arrhythmia Research Program, University of Wisconsin-Madison, Madison, WI, United States; Department of Medicine, University of Wisconsin-Madison, Madison, WI, United States. Electronic address:

Background: Mutations in PKD1 or PKD2 gene lead to autosomal dominant polycystic kidney disease (ADPKD). The mechanism of ADPKD progression and its link to increased cardiovascular mortality is still elusive.

Methods: We differentiated ADPKD patient induced pluripotent stem cells (iPSCs) to cardiomyocytes (CMs). Read More

J Magn Reson Imaging 2019 Jan 13. Epub 2019 Jan 13.

Department of Radiology, Weill Cornell Medicine, New York, New York, USA.

Magnetic resonance imaging (MRI) is increasingly used in autosomal dominant polycystic kidney disease (ADPKD) for diagnosis, classification, assessment of disease progression and treatment response, and for identifying complications. Herein we review the role of MRI in the management of patients with ADPKD. We show how MRI-derived total kidney volume is a biomarker for assessing ADPKD severity and predicting decline in renal function. Read More

J Clin Pharmacol 2019 Jan 11. Epub 2019 Jan 11.

Center of Molecular Immunology, Havana, Cuba.

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disease characterized by an overexpression and mislocalization of epidermal growth factor receptor (EGFR) to the apical membranes of cystic epithelial cells. Nimotuzumab is a humanized antibody that recognizes an extracellular domain III of human EGFR. The aim of this study was to assess the pharmacokinetic behavior of nimotuzumab in patients with ADPKD given as a single dose. Read More

Physiol Rep 2019 Jan;7(1):e13951

Department of Medicine, The University of Alabama at Birmingham, Birmingham, Alabama.

Several innate immune response components were recognized as outcome predictors in autosomal dominant polycystic kidney disease (ADPKD) and their causative role in disease pathogenesis was confirmed in animal models. In contrast, the role of adaptive immunity in ADPKD remains relatively unexplored. Therefore, we evaluated T cell populations in kidney and urine of ADPKD patients using flow cytometry and confocal immunofluorescence microscopy approaches. Read More

Pediatr Radiol 2019 Jan 10. Epub 2019 Jan 10.

Service de Radiologie, Hôpital d'Enfants Armand-Trousseau APHP, 26 avenue du Dr Arnold Netter, 75012, Paris, France.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease. This pathology has been increasingly diagnosed in utero and several sonographic patterns are well described in the literature.

Objective: To present a series of fetuses with an unusual imaging pattern of ADPKD, mimicking autosomal recessive polycystic kidney disease (ARPKD). Read More

Rev Med Suisse 2019 Jan;15(N° 632-633):69-73

Service de néphrologie, Département des spécialités médicales, HUG, 1211 Genève 14.

Major advances in the treatment of ANCA associated-renal vasculitides, IGA nephropathy and renal autosomal dominant polycystic disease were published within the past year. There is neither clear benefit of early initiation of renal replacement therapy in the intensive care unit nor with the use of chloride-poor solutions to prevent kidney failure. Maintenance parenteral iron supplementation in hemodialysis patients is neither associated with infectious nor cardiovascular risks. Read More

J Clin Pharmacol 2019 Jan 7. Epub 2019 Jan 7.

Otsuka Pharmaceutical Development & Commercialization, Inc, Princeton, NJ, USA.

Tolvaptan is the first approved drug treatment to slow kidney function decline in adults at risk of rapidly progressing autosomal dominant polycystic kidney disease (ADPKD). The objective is to develop (1091 subjects, 7335 observations) and validate (678 subjects, 3012 observations) a population pharmacokinetic model to describe tolvaptan pharmacokinetics in ADPKD subjects. The final model was evaluated with a bootstrapping method. Read More

J Am Soc Nephrol 2019 Feb 3;30(2):228-242. Epub 2019 Jan 3.

Department of Physiology, University of Regensburg, Regensburg, Germany; and

Background: Transepithelial chloride secretion, through the chloride channels cystic fibrosis transmembrane conductance regulator (CFTR) and TMEM16A (anoctamin 1), drives cyst enlargement in polycystic kidney disease (PKD). Polycystic kidneys are hypoxic, and oxidative stress activates TMEM16A. However, mechanisms for channel activation in PKD remain obscure. Read More

Afr Health Sci 2018 Sep;18(3):671-680

Renal Unit, department of Medicine, Obafemi Awolowo University Teaching Hospital, Ile-Ife, Nigeria.

Introduction: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is presumably rare in Africa. Knowledge about the disease in Nigeria is limited as demonstrated by scanty articles on the subject.

Objectives: To determine the pattern of clinical presentation and outcome of ADPKD among ADPKD patients. Read More

Curr Opin Nephrol Hypertens 2019 Mar;28(2):183-194

Division of Nephrology, Department of Internal Medicine.

Purpose Of Review: The purpose of this review is to emphasize that single gene disorders are an important and sometimes unrecognized cause of progressive chronic kidney disease. We provide an overview of the benefits of making a genetic diagnosis, the currently available genetic testing methods and examples of diseases illustrating the impact of a genetic diagnosis.

Recent Findings: Although there are now a number of monogenic renal diseases, only a few, such as autosomal dominant polycystic kidney disease (ADPKD), are generally diagnosable without genetic testing. Read More

Am J Kidney Dis 2018 Dec 29. Epub 2018 Dec 29.

Division of Nephrology, Department of Medicine, Tufts Medical Center, Boston, MA. Electronic address:

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. Expansion of multiple cysts throughout both kidneys is thought to lead to progressive loss of kidney function and kidney failure in some patients. In recent years, much has been learned about the pathophysiology of ADPKD. Read More

Radiology 2019 Mar 1;290(3):769-782. Epub 2019 Jan 1.

From the Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Mathildenstr 1, 79106 Freiburg, Germany (C.G.); Department of Pediatric Radiology, Jeanne de Flandre Mother and Child Hospital, University of Lille, Lille, France (E.F.A.); Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium (L.B.); Department of Pediatrics, University Hospital of Cologne, Cologne, Germany (K.B.); Department of Bioengineering, IRCCS Mario Negri Institute for Pharmacological Research, Bergamo, Italy (A.C.); Department of Pediatrics II, University Hospital Essen, Essen, Germany (M.C.); Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany (D.H., D.F., L.P.); Division of Nephrology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pa (E.A.H.); Department of General Pediatrics, University Children's Hospital, Münster, Germany (J.K., A.T.); Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany (M.C.L.); Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium (D.M.); PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium (D.M.); PKD Research Group, Department of Development and Regeneration, Catholic University Leuven (KU Leuven), Leuven, Belgium (D.M.); Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, England (A.C.M.O.); Department of Nephrology, Fundació Puigvert, Autonomous University of Barcelona, IIB Sant Pau, REDINREN, Barcelona, Spain (R.T.); University College London Great Ormond Street, Institute of Child Health, London, England (P.J.D.W.); and Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany (F.S.).

Kidney cysts can manifest as focal disease (simple and complex kidney cysts), affect a whole kidney (eg, multicystic dysplastic kidney or cystic dysplasia), or manifest as bilateral cystic disease (eg, autosomal recessive polycystic kidney disease [ARPKD] or autosomal dominant polycystic kidney disease [ADPKD]). In children, as opposed to adults, a larger proportion of kidney cysts are due to genetic diseases (eg, HNF1B nephropathy, various ciliopathies, and tuberous sclerosis complex), and fewer patients have simple cysts or acquired cystic kidney disease. The purpose of this consensus statement is to provide clinical guidance on standardization of imaging tests to evaluate kidney cysts in children. Read More

BMC Nephrol 2018 Dec 27;19(1):378. Epub 2018 Dec 27.

Department of Biostatistics, University of Kansas Medical Center, Mail Stop 1026, 3901 Rainbow Blvd., Kansas City, KS, 66160, USA.

Background: Caffeine has been proposed, based on in vitro cultured cell studies, to accelerate progression of autosomal dominant polycystic kidney disease (ADPKD) by increasing kidney size. Since ADPKD patients are advised to minimize caffeine intake, we investigated the effect of caffeine on disease progression in the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP), a prospective, observational cohort study.

Methods: Our study included 239 patients (mean age = 32. Read More

PLoS One 2018 27;13(12):e0209332. Epub 2018 Dec 27.

Radiology Unit, Azienda Ospedaliera Policlinico of Catania, Catania, Italy.

Background: The indication to bilateral nephrectomy in patients with autosomal dominant polycystic kidney scheduled for kidney transplantation is controversial. Indeed, the progressive enlargement of cysts may increase the risk of complications and the need for nephrectomy. However, very few studies investigated the change in kidney volume after kidney transplantation. Read More

Nutrients 2018 Dec 25;11(1). Epub 2018 Dec 25.

Kidney Research Center, Department of Nephrology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan.

Autophagy impairment has been demonstrated in the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD) and could be a new target of treatment. Trehalose is a natural, nonreducing disaccharide that has been shown to enhance autophagy. Therefore, we investigated whether trehalose treatment reduces renal cyst formation in a -hypomorphic mouse model. Read More

Clin Kidney J 2018 Dec 17;11(Suppl 1):i27-i38. Epub 2018 Dec 17.

Department of Molecular, Cellular, and Developmental Biology; and Neuroscience Research Institute, University of California, Santa Barbara, CA, USA.

Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disease that leads to renal failure in the majority of patients. The very first pharmacological treatment, tolvaptan, received Food and Drug Administration approval in 2018 after previous approval in Europe and other countries. However, tolvaptan is moderately effective and may negatively impact a patient's quality of life due to potentially significant side effects. Read More

Clin Kidney J 2018 Dec 17;11(Suppl 1):i14-i26. Epub 2018 Dec 17.

Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium.

Awareness is growing that the clinical course of autosomal dominant polycystic kidney disease (ADPKD) already begins in childhood, with a broad range of both symptomatic and asymptomatic features. Knowing that parenchymal destruction with cyst formation and growth starts early in life, it seems reasonable to assume that early intervention may yield the best chances for preserving renal outcome. Interventions may involve lifestyle modifications, hypertension control and the use of disease-modifying treatments once these become available for the paediatric population with an acceptable risk and side-effect profile. Read More

Clin Kidney J 2018 Dec 17;11(Suppl 1):i2-i13. Epub 2018 Dec 17.

Department II of Internal Medicine, Center for Molecular Medicine Cologne, University of Cologne, Germany.

Autosomal-dominant polycystic kidney disease (ADPKD) is the most frequent genetic cause of end-stage renal disease in adults. Affected individuals and families face a significant medical and psychosocial burden due to both renal and extrarenal manifestations. Consequently, interventions that ameliorate the course of the disease and specifically slow down the loss of kidney function are of special interest. Read More

Am J Kidney Dis 2018 Dec 19. Epub 2018 Dec 19.

Division of Nephrology, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

Rationale & Objective: The vasopressin V2 receptor antagonist (V2RA) tolvaptan is the first drug that has been shown to slow the rate of kidney function decline in patients with autosomal dominant polycystic kidney disease (ADPKD). However, V2RAs also cause polyuria, with urine output that averages 6L/d. We assessed determinants of urine volume in patients with ADPKD using V2RAs because such information may help develop strategies to improve V2RA tolerability. Read More

BMC Nephrol 2018 Dec 19;19(1):368. Epub 2018 Dec 19.

Department of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Background: Somatostatin (SST) inhibits intracellular cyclic adenosine monophosphate (cAMP) production and thus may modify cyst formation in autosomal dominant polycystic kidney disease (ADPKD). We investigated whether endogenous plasma SST concentration is associated with disease severity and progression in patients with ADPKD, and whether plasma SST concentrations change during treatment with a vasopressin V2 receptor antagonist or SST analogue.

Methods: In this observational study, fasting concentrations of SST were measured in 127 ADPKD patients (diagnosed upon the revised Ravine criteria) by ELISA. Read More

BMJ Case Rep 2018 Dec 3;11(1). Epub 2018 Dec 3.

Department of Urology, King George's Medical University, Lucknow, Uttar Pradesh, India.

Caroli's disease is a rare congenital disorder with incidence rate of approximately 1 in 1 000 000 population. Renal anomalies which may be associated with Caroli's disease include medullary sponge kidney (MSK), cortical cysts, adult recessive polycystic kidney disease and rarely autosomal dominant polycystic kidney disease. Exact incidence of MSK in patients of Caroli's disease is not known. Read More

Am J Physiol Renal Physiol 2019 Mar 19;316(3):F414-F425. Epub 2018 Dec 19.

Department of Medicine, University of Alabama at Birmingham , Birmingham, Alabama.

Deficiency in polycystin 1 triggers specific changes in energy metabolism. To determine whether defects in other human cystoproteins have similar effects, we studied extracellular acidification and glucose metabolism in human embryonic kidney (HEK-293) cell lines with polycystic kidney and hepatic disease 1 ( PKHD1) and polycystic kidney disease (PKD) 2 ( PKD2) truncating defects along multiple sites of truncating mutations found in patients with autosomal recessive and dominant PKDs. While neither the PKHD1 or PKD2 gene mutations nor their position enhanced cell proliferation rate in our cell line models, truncating mutations in these genes progressively increased overall extracellular acidification over time ( P < 0. Read More

Acta Radiol Open 2018 Dec 10;7(12):2058460118818849. Epub 2018 Dec 10.

Department of Radiology, Kochi University, Kochi Medical School Kohasu, Oko-cho, Nankoku, Kochi, Japan.

We report a 63-year-old woman who had recurrent symptoms such as remarkable abdominal distension caused by autosomal dominant polycystic kidney disease in spite of previous bilateral renal arterial embolization with microcoils. Renal arterial embolization with trisacryl gelatin microspheres was performed. The embolic agent was infused while the micro-balloon catheter that was coaxially inserted from a 4-F catheter was inflated without any complications. Read More

Nat Rev Dis Primers 2018 Dec 6;4(1):50. Epub 2018 Dec 6.

Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.

Cystic kidneys are common causes of end-stage renal disease, both in children and in adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are cilia-related disorders and the two main forms of monogenic cystic kidney diseases. ADPKD is a common disease that mostly presents in adults, whereas ARPKD is a rarer and often more severe form of polycystic kidney disease (PKD) that usually presents perinatally or in early childhood. Read More