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Eur J Nutr 2020 Jul 6. Epub 2020 Jul 6.

École de Kinésiologie et des Sciences de l'activité Physique, Faculté de Médecine, Université de Montréal, Montréal, QC, Canada.

Purpose: An increasing body of evidence suggests that excreting a generous volume of diluted urine is associated with short- and long-term beneficial health effects, especially for kidney and metabolic function. However, water intake and hydration remain under-investigated and optimal hydration is poorly and inconsistently defined. This review tests the hypothesis that optimal chronic water intake positively impacts various aspects of health and proposes an evidence-based definition of optimal hydration. Read More

Kidney Int 2020 Mar 23. Epub 2020 Mar 23.

Department of Nephrology, Hemodialysis and Renal Transplantation, University Hospital, Brest, France; Univ Brest, F-29200 Brest, France; National Institute for Research in Health Science (INSERM) UMR 1078, "Genetics, Genomics and Biotechnologies," Brest, France. Electronic address:

Monoallelic mutations of DNAJB11 were recently described in seven pedigrees with atypical clinical presentations of autosomal dominant polycystic kidney disease. DNAJB11 encodes one of the main cofactors of the endoplasmic reticulum chaperon BiP, a heat-shock protein required for efficient protein folding and trafficking. Here we conducted an international collaborative study to better characterize the DNAJB11-associated phenotype. Read More

Int J Mol Sci 2020 Jun 25;21(12). Epub 2020 Jun 25.

Perha Pharmaceuticals & ManRos Therapeutics, Centre de Perharidy, 29680 Roscoff, Bretagne, France.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inheritable cause of end stage renal disease and, as of today, only a single moderately effective treatment is available for patients. Even though ADPKD research has made huge progress over the last decades, the precise disease mechanisms remain elusive. However, a wide variety of cellular and animal models have been developed to decipher the pathophysiological mechanisms and related pathways underlying the disease. Read More

Kidney Int 2020 Mar 6. Epub 2020 Mar 6.

Kidney Genetics Group, Academic Nephrology Unit, University of Sheffield Medical School, Sheffield, UK. Electronic address:

MicroRNAs (miRNAs) play an important role in regulating gene expression in health and disease but their role in modifying disease expression in Autosomal Dominant Polycystic Kidney Disease (ADPKD) remains uncertain. Here, we profiled human urinary exosome miRNA by global small RNA-sequencing in an initial discovery cohort of seven patients with ADPKD with early disease (eGFR over 60ml/min/1.73m), nine with late disease (eGFR under 60ml/min/1. Read More

Kidney Int 2020 Mar 6. Epub 2020 Mar 6.

Kidney Genetics Group, Academic Nephrology Unit, University of Sheffield Medical School, Sheffield, UK; Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, UK. Electronic address:

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a major cause of end-stage kidney disease in man. The central role of cyclic adenosine monophosphate (cAMP) in ADPKD pathogenesis has been confirmed by numerous studies including positive clinical trial data. Here, we investigated the potential role of another major regulator of renal cAMP, prostaglandin E (PGE), in modifying disease progression in ADPKD models using selective receptor modulators to all four PGE receptor subtypes (EP1-4). Read More

Cell Signal 2020 Jul 1:109704. Epub 2020 Jul 1.

Division of Nephrology, University Health Network and University of Toronto, Toronto, Ontario, Canada. Electronic address:

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenetic kidney disease worldwide and an important cause of chronic kidney disease. Multiple experimental studies have highlighted the role of increased mammalian target of rapamycin complex 1 (mTORC1) and reduced AMP-activated protein kinase (AMPK) signaling in modulating cyst growth in ADPKD. Notably, mTORC1 and AMPK are two diametrically opposing sensors of energy metabolism which regulate cell growth and proliferation. Read More

Prog Mol Biol Transl Sci 2020 3;172:107-133. Epub 2020 Feb 3.

Division of Nephrology and Hypertension, Joan and Sanford I. Weill Department of Medicine, NewYork-Presbyterian Hospital, Weill Cornell Medicine, New York, NY, United States. Electronic address:

Autophagy is a highly conserved intracellular catabolic process for the degradation of cytoplasmic components that has recently gained increasing attention for its importance in kidney diseases. It is indispensable for the maintenance of kidney homeostasis both in physiological and pathological conditions. Investigations utilizing various kidney cell-specific conditional autophagy-related gene knockouts have facilitated the advancement in understanding of the role of autophagy in the kidney. Read More

J Neurosurg 2020 Jul 3:1-8. Epub 2020 Jul 3.

1Neurosurgery of NeuroCenter, Kuopio University Hospital and University of Eastern Finland, Kuopio.

Objective: The authors set out to study whether autosomal dominant polycystic kidney disease (ADPKD), an established risk factor for intracranial aneurysms (IAs), affects the acute course and long-term outcome of aneurysmal subarachnoid hemorrhage (aSAH).

Methods: The outcomes of 32 ADPKD patients with aSAH between 1980 and 2015 (median age 43 years; 50% women) were compared with 160 matched (age, sex, and year of aSAH) non-ADPKD aSAH patients in the prospectively collected Kuopio Intracranial Aneurysm Patient and Family Database.

Results: At 12 months, 75% of the aSAH patients with ADPKD versus 71% of the matched-control aSAH patients without ADPKD had good outcomes (Glasgow Outcome Scale score 4 or 5). Read More

Cell Signal 2020 Jun 30:109703. Epub 2020 Jun 30.

Division of Nephrology, UCLouvain Medical School, B-1200, Brussels, Belgium,; Mechanisms of Inherited Kidney Disorders, University of Zurich, CH-8057 Zurich, Switzerland. Electronic address:

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent inherited kidney disease. Transepithelial fluid secretion is one of the key factors of cystogenesis in ADPKD. Multiple studies have suggested that fluid secretion across ADPKD cyst-lining cells is driven by the secretion of chloride, essentially mediated by the CFTR channel and stimulated by increased intracellular levels of 3',5'-cyclic adenosine monophosphate. Read More

Am J Nephrol 2020 Jul 1:1-9. Epub 2020 Jul 1.

Department of Biological Sciences, Sookmyung Women's University, Seoul, Republic of Korea,

Background: Polycystic kidney disease (PKD) is a hereditary disease characterized by cyst formation in the kidneys bilaterally. It has been observed that semaphorin-3C (SEMA3C) is overexpressed in polycystic kidney epithelial cells. It is hypothesized that upregulated SEMA3C would contribute to survival of polycystic kidney epithelial cells. Read More

Kidney Int 2020 Jun 28. Epub 2020 Jun 28.

Harvard Center for Polycystic Kidney Disease Research and Renal Division, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States. Electronic address:

Polycystin-1 (PC1) and -2 (PC2), products of the PKD1 and PKD2 genes, are mutated in autosomal dominant polycystic kidney disease (ADPKD). They localize to the primary cilia; however, their ciliary function is in dispute. Loss of either the primary cilia or PC1or PC2 causes cyst formation. Read More

Genes (Basel) 2020 Jun 24;11(6). Epub 2020 Jun 24.

Igenomix, 46980 Valencia, Spain.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and presents with genetic and clinical heterogeneity. ADPKD can also manifest extra-renally, and seminal cysts have been associated with male infertility in some cases. ADPKD-linked male infertility, along with female age, have been proposed as factors that may influence the clinical outcomes of preimplantation genetic testing (PGT) for monogenic disorders (PGT-M). Read More

Transpl Infect Dis 2020 Jun 29:e13391. Epub 2020 Jun 29.

Department of Transplantation Medicine, Nephrology and Internal Diseases, Medical University of Warsaw, 59 Nowogrodzka Street, 02-006, Warsaw, Poland.

Background: We would like to demonstrate the difficulty of treatment in a patient after kidney transplantation (KTX) who developed chronic urinary tract infection (UTI) with a multi-drug resistant ESBL-producing Klebsiella pneumoniae. The patient underwent several treatment interventions including supportive therapy with bacteriophages.

Case Presentation: This article presents a case of a 60-year-old patient after KTX repeatedly admitted to the hospital with recurrent UTIs caused by ESBL-producing Klebsiella pneumoniae showing variable susceptibility to carbapenems and full susceptibility to colistin only. Read More

Eur Endocrinol 2020 Apr 4;16(1):66-68. Epub 2020 Feb 4.

Paediatric Endocrinology Unit, Northern Maternal and Child Centre, Porto University Hospital Centre, Porto, Portugal.

Co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been recently described. It is caused by a non-coding variant in the promoter region for phosphomannomutase 2 (), c.-167G>T, both in homozygous or compound heterozygous variants with deleterious coding. Read More

Stem Cell Res 2020 Jun 19;47:101881. Epub 2020 Jun 19.

Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Centro Anna Maria Astori, Science and Technology Park Kilometro Rosso, 24126 Bergamo, Italy. Electronic address:

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, characterised by the development of multiple fluid-filled cysts in the kidneys and other organs. PKD1 and PKD2 are the two major causative genes encoding for polycystin-1 and polycystin-2, respectively. Here, we report the generation of two isogenic induced pluripotent stem cell (iPSC) lines with either heterozygous or compound heterozygous mutations in the PKD1 gene using CRISPR-Cas9 technology. Read More

J Cell Mol Med 2020 Jun 27. Epub 2020 Jun 27.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

The Hippo pathway is a highly conserved signalling route involved in organ size regulation. The final effectors of this pathway are two transcriptional coactivators, yes-associated protein (YAP) and transcriptional coactivator with PDZ-binding motif (WWTR1 or TAZ). Previously, we showed aberrant activation of the Hippo pathway in autosomal-dominant polycystic kidney disease (ADPKD), suggesting that YAP/TAZ might play a role in disease progression. Read More

Neurol Sci 2020 Jun 25. Epub 2020 Jun 25.

Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.

Clin J Am Soc Nephrol 2020 Jun 25. Epub 2020 Jun 25.

Selzman Institute for Kidney Health, Section of Nephrology, Baylor College of Medicine, Houston, Texas.

Background And Objectives: The language used to communicate important aspects of kidney health is inconsistent and may be conceptualized differently by patients and health professionals. These problems may impair the quality of communication, care, and patient outcomes. We aimed to describe the perspectives of patients on terms used to describe kidney health. Read More

Chem Senses 2020 Jun 25. Epub 2020 Jun 25.

Department of Otolaryngology, University of Colorado, Aurora, CO.

Studies have suggested that communication between taste cells shapes the gustatory signal before transmission to the brain. To further explore the possibility of intragemmal signal modulation, we adopted an optogenetic approach to stimulate sour-sensitive (Type III) taste cells using mice expressing Cre recombinase under a specific Type III cell promoter, Pkd2l1 (Polycystic kidney Disease-2-Like 1), crossed with mice expressing Cre-dependent Channelrhodopsin (ChR2). The application of blue light onto the tongue allowed for the specific stimulation of Type III cells and circumvented the non-specific effects of chemical stimulation. Read More

Rep Biochem Mol Biol 2020 Jan;8(4):401-406

Cellular and Molecular Research Center, Cellular and Molecular Medicine Institute, Urmia University of Medical Sciences, Urmia, Iran.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a delayed-onset renal disorder that results from a mutation in the or genes. Autosomal dominant polycystic kidney disease results in end-stage renal disease due to renal cystic dysplasia. The aim of this study was to evaluate, by exon sequencing, the disease-causing variants of (exons 4, 6, and 8) in Iranian ADPKD patients. Read More

Front Pediatr 2020 2;8:216. Epub 2020 Jun 2.

Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Yonago, Japan.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease causing renal cysts. Reports on kidney cyst infection in children are rare despite cyst infections being important complications of ADPKD. Here, we report a case of a child without any medical history who had a urinary tract infection with sepsis at 7 months. Read More

Nat Commun 2020 Jun 24;11(1):3200. Epub 2020 Jun 24.

Institut Necker-Enfants Malades, 14 rue Maria Helena Vieira Da Silva, CS, 61431, Paris, France.

mTOR activation is essential and sufficient to cause polycystic kidneys in Tuberous Sclerosis Complex (TSC) and other genetic disorders. In disease models, a sharp increase of proliferation and cyst formation correlates with a dramatic loss of oriented cell division (OCD). We find that OCD distortion is intrinsically due to S6 kinase 1 (S6K1) activation. Read More

PLoS One 2020 23;15(6):e0235071. Epub 2020 Jun 23.

Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

Cystic kidney diseases are a very heterogeneous group of chronic kidney diseases. The diagnosis is usually based on clinical and ultrasound characteristics and the final diagnosis is often difficult to be made. Next-generation sequencing (NGS) may help the clinicians to find the correct final diagnosis. Read More

Pediatr Int 2020 Jun 23. Epub 2020 Jun 23.

Department of Pediatric Nephrology and Metabolism, Osaka Women's and Children's Hospital, Osaka, Japan.

Kidney Int 2020 Jul;98(1):240

Department of Vascular Surgery, the Second Xiangya Hospital, Central South University, Changsha, China; Center of Vascular Surgery, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. Electronic address:

Cell Signal 2020 Jun 20;73:109698. Epub 2020 Jun 20.

Signal Transduction and Molecular Nutrition Laboratory, Kogod Aging Center, Department of Anesthesiology and Perioperative Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. Electronic address:

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic diseases implicated in the development of end stage renal disease (ESRD). Although FDA has recently approved a drug against ADPKD, there is still a great need for development of alternative management strategies for ADPKD. Understanding the different mechanisms that lead to cystogenesis and cyst expansion in ADPKD is imperative to develop new therapies against ADPKD. Read More

Cell Death Discov 2020 15;6:52. Epub 2020 Jun 15.

Department of Pathology, School of Basic Medical Science, Fudan University, Shanghai, 200032 PR China.

Tuberous sclerosis complex (TSC) is characterized by hamartomatous lesions in multiple organs, with most patients developing polycystic kidney disease and leading to a decline of renal function. TSC is caused by loss-of-function mutations in either or gene, but currently, there is no effective treatment for aberrant kidney growth in TSC patients. By generating a renal proximal tubule-specific gene-knockout () mouse model, we observed that mice developed aberrantly enlarged kidneys primarily due to hypertrophy and proliferation of proximal tubule cells, along with some cystogenesis, interstitial inflammation, and fibrosis. Read More

Urology 2020 Jun 17. Epub 2020 Jun 17.

Department of Urology, University of Rochester Medical Center (URMC), Rochester, New York, U.S.

Objective: To describe our technique of robot-assisted synchronous bilateral nephrectomy (RASBN) for autosomal dominant polycystic kidney disease (ADPKD).

Methods: Given prior abdominal surgery/transplant in most patients, we prefer an open cut-down access to place a 12mm port 10cm infra-umbilically. Four (8mm) robotic ports are then placed under vision in a fan distribution along the umbilical level. Read More

Cancer Lett 2020 Jun 16;489:135-143. Epub 2020 Jun 16.

First Department of Pathology, Medical School, National and Kapodistrian University of Athens, 75 Mikras Asias Street, Athens, 11527, Greece. Electronic address:

In the present study we investigated the expression and the functional role of mechanosensitive polycystins in renal cell carcinoma (RCC). In 115 RCC patients we evaluated the protein expression of polycystin-1 (PC1), polycystin-2 (PC2), VEGF and protein components of the PI3K/Akt/mTOR pathway, which have been implicated both in RCC and polycystic kidney disease. PC1 and PC2 demonstrated reduced expression throughout the RCC tissue compared to the adjacent normal tissue. Read More

Eur J Nucl Med Mol Imaging 2020 Jun 15. Epub 2020 Jun 15.

Division of Nephrology, Department of Internal Medicine, ULiège Academic Hospital, Avenue Hippocrate, 13, 4000, Liège, Belgium.

Purpose: [F]FDG PET/CT (PET/CT) proved useful in the diagnosis of renal and hepatic cyst infection (CyI) in patients with autosomal dominant polycystic kidney disease (ADPKD). However, the definition of CyI by PET/CT is unclear. Here, we characterize the [F]FDG uptake in CyI in order to infer a visual 4-point diagnostic scale. Read More

J Am Soc Nephrol 2020 Jun 17. Epub 2020 Jun 17.

The Jared Grantham Kidney Institute, University of Kansas Medical Center, Kansas City, Kansas

Background: Fibrosis is a major cause of loss of renal function in autosomal dominant polycystic kidney disease (ADPKD). In this study, we examined whether vasopressin type-2 receptor (V2R) activity in cystic epithelial cells can stimulate interstitial myofibroblasts and fibrosis in ADPKD kidneys.

Methods: We treated gene knockout (KO) mice with dDAVP, a V2R agonist, for 3 days and evaluated the effect on myofibroblast deposition of extracellular matrix (ECM). Read More

Dig Liver Dis 2020 Jun 15. Epub 2020 Jun 15.

Department of Gastroenterology, GB Pant Hospital, New Delhi 110002, India.

Biomed Res Int 2020 19;2020:7469428. Epub 2020 May 19.

Medical School of Chinese PLA, Department of Nephrology, Chinese PLA General Hospital, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China.

Background: Heterozygous mutations that can cause autosomal dominant polycystic kidney disease (ADPKD) and polycystic liver disease (PLD) have been described previously, but their roles in ADPKD and PLD are largely unknown. With the increase in polycystic kidney disease caused by gene mutations in recent years, a suitable animal model is still needed to further explore the pathogenic role of this gene.

Methods: To construct a mouse model of gene deletion, we analyzed gene structure and designed two CRISPR-/Cas9-based targeting strategies. Read More

Transplant Direct 2020 May 27;6(5):e553. Epub 2020 Apr 27.

Department of Nephrology and Transplantation, Queen Elizabeth Hospital, Birmingham, United Kingdom.

Autosomal dominant polycystic kidney disease (ADPKD) is linked with risk for posttransplantation diabetes mellitus (PTDM), but this association has methodologic limitations like diagnostic criteria. The aim of this study was to use contemporary diagnostic criteria for PTDM and explore any risk association for kidney transplant recipients with ADPKD.

Methods: We undertook a retrospective analysis of 1560 nondiabetic kidney transplant recipients between 2007 and 2018 at a single center, of whom 248 (15. Read More

Int J Womens Health 2020 25;12:409-422. Epub 2020 May 25.

Central and Northern Adelaide Renal and Transplantation Services (CNARTS), Royal Adelaide Hospital, Adelaide, SA, Australia.

Autosomal dominant polycystic kidney disease (ADPKD) affects up to 1 in 1000 people. The disease is characterized by the progressive development of cysts throughout the renal parenchyma due to inherited pathogenic variants in genes including or and eventually leads to gradual loss of renal function, along with manifestations in other organ systems such as hepatic cysts and intracranial aneurysms. ADPKD management has advanced considerably in recent years due to genetic testing availability, pre-implantation genetic diagnosis technology and new therapeutic agents. Read More

Autophagy 2020 Jun 30:1-15. Epub 2020 Jun 30.

Instituto de Investigación en Ciencias Odontológicas (ICOD), Facultad de Odontología, Universidad de Chile , Santiago, Chile.

Macroautophagy/autophagy is an intracellular process involved in the breakdown of macromolecules and organelles. Recent studies have shown that PKD2/PC2/TRPP2 (polycystin 2, transient receptor potential cation channel), a nonselective cation channel permeable to Ca that belongs to the family of transient receptor potential channels, is required for autophagy in multiple cell types by a mechanism that remains unclear. Here, we report that PKD2 forms a protein complex with BECN1 (beclin 1), a key protein required for the formation of autophagic vacuoles, by acting as a scaffold that interacts with several co-modulators via its coiled-coil domain (CCD). Read More

Am J Nephrol 2020 15;51(6):473-479. Epub 2020 Jun 15.

Division of Nephrology and Hypertension, Department of Medicine, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

Background: Cyst compression of renal tubules plays a role in the progression of autosomal dominant polycystic kidney disease (ADPKD) and may induce expression of kidney injury molecule-1 (KIM-1). Whether urinary KIM-1 indexed for creatinine (uKIM-1/Cr) is a prognostic marker of disease progression in ADPKD is unknown.In this secondary analysis of a prospective cohort study, we sought to determine whether patients with high as opposed to low uKIM-1/CR at baseline had greater rates of eGFR loss and height-adjusted total kidney volume (HtTKV) increase. Read More

Kidney Int 2020 Jun 10. Epub 2020 Jun 10.

Departments of Nephrology, University Medical Center Groningen, University of Groningen, Groningen. Electronic address:

In autosomal dominant polycystic kidney disease (ADPKD), there are only scarce data on the effect of salt and protein intake on disease progression. Here we studied association of these dietary factors with the rate of disease progression in ADPKD, and what the mediating factors are by analyzing an observational cohort of 589 patients with ADPKD. Salt and protein intake were estimated from 24-hour urine samples and the plasma copeptin concentration measured as a surrogate for vasopressin. Read More

Mol Genet Genomic Med 2020 Jun 13:e1321. Epub 2020 Jun 13.

Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, Spain.

Background: Autosomal dominant polycystic kidney disease (ADPKD) and neurofibromatosis type 1 (NF1) are both autosomal dominant disorders with a high rate of novel mutations. However, the two disorders have distinct and well-delineated genetic, biochemical, and clinical findings. Only a few cases of coexistence of ADPKD and NF1 in a single individual have been reported, but the possible implications of this association are unknown. Read More

G Ital Nefrol 2020 Jun 10;37(3). Epub 2020 Jun 10.

Cattedra di Nefrologia, AOU Federico II di Napoli, Italy.

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent monogenic kidney disease, alone responsible for over 10% of patients with end-stage renal disease, and with an important impact on public health. Tolvaptan (TOLV) has recently been approved in many European countries for its ability to slow disease progression in patients that are eligible for treatment. Nevertheless, the doctor's choice to prescribe the drug and the patient's compliance are strongly influenced by the aquaretic effect complications. Read More

Clin J Am Soc Nephrol 2020 Jun 11. Epub 2020 Jun 11.

Division of Nephrology and Transplantation, Department of Internal Medicine, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Clin J Am Soc Nephrol 2020 Jun 11. Epub 2020 Jun 11.

Department of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland

Background And Objectives: Nephrolithiasis is a common health problem in autosomal dominant polycystic kidney disease (ADPKD) and significantly contributes to patient morbidity. Recently, Tolvaptan has been introduced for the treatment of ADPKD, but whether it is associated with alterations of the urinary lithogenic risk profile remains unknown.

Design, Setting, Participants, & Measurements: We conducted an analysis of participants enrolled in the Bern ADPKD registry, a prospective observational cohort study. Read More

Kidney Dis (Basel) 2020 May 19;6(3):144-149. Epub 2020 Mar 19.

Department of Nephrology, Changzheng Hospital, Second Military Medical University, Shanghai, China.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, with a prevalence of 1/2,500-1/1,000, and it affects 1.25 million people in China. ADPKD is responsible for nearly 5% of end-stage renal disease cases, which leads to a major burden on public health. Read More

Cureus 2020 May 5;12(5):e7976. Epub 2020 May 5.

Gastroenterology, Staten Island University Hospital - Northwell Health, Staten Island, USA.

Polycystic liver disease (PCLD) is a rare condition that most often occurs in patients with polycystic kidney disease and less commonly as an isolated liver disease. Complications include cyst rupture, infection, hemorrhage, and compression of surrounding organs by large cysts. We present the case of a patient with a history of PCLD who presented to our hospital with palpitations and was found to have atrial fibrillation. Read More

Kidney Int Rep 2020 Jun 27;5(6):801-812. Epub 2020 Apr 27.

Clinical Pharmacology, Otsuka Pharmaceutical Development & Commercialization, Rockville, Maryland, USA.

Introduction: Tolvaptan, a treatment for autosomal dominant polycystic kidney disease (ADPKD), inhibits vasopressin V2 receptor signaling, which causes aquaretic adverse events (AAEs). The short-term efficacy and tolerability of a once-daily, modified-release (MR) formulation was assessed relative to the twice-daily, immediate-release (IR) formulation.

Methods: This Phase 2 multicenter, randomized (1:1:1:1), placebo-controlled, double-blind, placebo-masked, parallel-group study (NCT01451827) compared tolvaptan MR 50 mg once daily or tolvaptan MR 80 mg once daily with tolvaptan IR 60/30 mg daily split dose and placebo over 8 weeks in 177 subjects. Read More

Kidney Int Rep 2020 Jun 17;5(6):790-800. Epub 2020 Mar 17.

Quantitative Pharmacology, Otsuka Pharmaceutical Development & Commercialization, Rockville, Maryland, USA.

Introduction: Tolvaptan, for treatment of autosomal dominant polycystic kidney disease (ADPKD), is provided as immediate-release (IR) tablets administered twice daily in split-dose regimens to suppress urine osmolality to <300 mOsm/kg. A modified-release (MR) formulation was developed for once-daily (QD) dosing to increase compliance and mitigate urinary symptom burden. This phase 2, dose-ranging study (NCT01210560) compared pharmacokinetics, pharmacodynamics, and tolerability of several MR regimens with IR in patients with ADPKD. Read More

Eur J Clin Pharmacol 2020 Jun 8. Epub 2020 Jun 8.

Hospital Pharmacy, Vall d'Hebron Hospital Campus, Barcelona, Spain.

J Cell Sci 2020 Jun 8. Epub 2020 Jun 8.

University of Maryland School of Medicine, Department of Physiology, Baltimore, MD, USA

Cystogenesis is a morphological consequence of numerous genetic diseases of the epithelium. In the kidney, the pathogenic mechanisms underlying the program of altered cell and tubule morphology are obscured by secondary effects of cyst expansion. Here, we developed a new 3D tubuloid system to isolate the rapid changes in protein localization and gene expression that correlate with altered cell and tubule morphology during cyst initiation. Read More

J Korean Med Sci 2020 Jun 8;35(22):e165. Epub 2020 Jun 8.

Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea.

Background: Intrarenal renin-angiotensin system (RAS) is known to play the major role in the development of hypertension and renal progression in autosomal dominant polycystic kidney disease (ADPKD). Urinary angiotensinogen to creatinine ratio (AGT/Cr) was suggested as a novel biomarker to reflect intrarenal RAS activity. This study was performed to evaluate urinary AGT/Cr as a predictive biomarker for renal function decline in addition to imaging classification in a prospective ADPKD cohort. Read More

J Pediatr Surg 2020 Apr 1. Epub 2020 Apr 1.

Division of Pediatric Surgery, Department of Surgery, University of Michigan 1540 E Hospital Dr., Rm 4972, Ann Arbor, MI 48109, United States.

Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare cause of renal failure with a highly variable clinical course. Patients who are symptomatic early in life frequently require early nephrectomy and peritoneal dialysis. In these patients there are little data to guide clinicians on whether to select unilateral nephrectomy or bilateral nephrectomy at the initial operative intervention. Read More