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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

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.

Transpl Infect Dis 2020 Jun 25:e13389. Epub 2020 Jun 25.

Department of Medicine, Division of Nephrology, University of Wisconsin-Madison, Madison, WI, USA.

A 76-year-old female with end-stage renal disease secondary to autosomal dominant polycystic kidney disease, status-post deceased donor renal transplant in 2009 presented with a painful tongue ulcer, fatigue, and weight loss. She had noted progressive fatigue, nausea, and anorexia over the preceding four months with an associated weight loss of 17 pounds. The tongue ulcer was first noted two weeks prior to presentation. 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

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

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

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

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 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

Nefrologia 2020 Jun 3. Epub 2020 Jun 3.

Nefrología, Hospital Universitario Virgen de las Nieves de Granada, España.

Objective: To demonstrate that the variant not described in PKD1 gene c.7292T> A, identified in four families from the Alpujarra in Granada, is the cause of autosomal dominant polycystic kidney disease (ADPKD). This variant consists of a transversion of thymine (T) by adenine (A) that at the level of the Polycystin 1 protein produces a change of leucine (Leu / L) by Glutamine (Gln / Q) in position 2431 (p. Read More

Braz J Biol 2020 May 29. Epub 2020 May 29.

Departamento de Patologia, Faculdade de Medicina Veterinária e Zootecnia, Universidade de São Paulo, São Paulo, SP, Brasil.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determine ADPKD prevalence in a Brazilian population. Read More

J Am Soc Nephrol 2020 Jul 2;31(7):1640-1651. Epub 2020 Jun 2.

Department of Biomedical Informatics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

Background: The Mayo Clinic imaging classification of autosomal dominant polycystic kidney disease (ADPKD) uses height-adjusted total kidney volume (htTKV) and age to identify patients at highest risk for disease progression. However, this classification applies only to patients with typical diffuse cystic disease (class 1). Because htTKV poorly predicts eGFR decline for the 5%-10% of patients with atypical morphology (class 2), imaging-based risk modeling remains unresolved. Read More

Indian J Radiol Imaging 2020 Jan-Mar;30(1):102-104. Epub 2020 Mar 30.

Radiodiagnosis, A.I.I.M.S, New Delhi, India.

Infection of a cyst within an autosomal dominant polycystic kidney disease (ADPKD) is a serious complication. Diagnosis with conventional imaging techniques such as ultrasonography, computed tomography (CT), and magnetic resonance imaging can be sometimes challenging. The definite diagnosis is analysis of the cyst fluid, but cyst punctures can cause bleeding, rupture, and contamination of adjacent cysts. Read More

Semin Cell Dev Biol 2020 May 28. Epub 2020 May 28.

School of Life Sciences, Southwest University, Beibei, Chongqing, 400715, China. Electronic address:

Polycystic kidney disease (PKD), comprising autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD), is characterized by incessant cyst formation in the kidney and liver. ADPKD and ARPKD represent the leading genetic causes of renal disease in adults and children, respectively. ADPKD is caused by mutations in PKD1 encoding polycystin1 (PC1) and PKD2 encoding polycystin 2 (PC2). Read More

IUBMB Life 2020 May 30. Epub 2020 May 30.

Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common monogenic disease that has an adverse impact on the patients' health and quality of life. ADPKD is usually known as "adult-type disease," but rare cases have been reported in pediatric patients. We present here a 2-year-old Tunisian girl with renal cyst formation and her mother with adult onset ADPKD. Read More

Front Genet 2020 7;11:464. Epub 2020 May 7.

Nephrology, Dialysis and Transplantation Unit, Department of Experimental, Diagnostic and Specialty Medicine (DIMES), S. Orsola-Malpighi University Hospital, Bologna, Italy.

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited disorders in humans and the majority of patients carry a variant in either or . Genetic testing is increasingly required for diagnosis, prognosis, and treatment decision, but it is challenging due to segmental duplications of , genetic and allelic heterogeneity, and the presence of many variants hypomorphic or of uncertain significance. We propose an NGS-based testing strategy for molecular analysis of ADPKD and its phenocopies, validated in a diagnostic setting. Read More

PLoS One 2020 22;15(5):e0233213. Epub 2020 May 22.

Center for Proteomics and Metabolomics, Leiden University Medical Center, Leiden, the Netherlands.

Background: The variable course of autosomal dominant polycystic kidney disease (ADPKD), and the advent of renoprotective treatment require early risk stratification. We applied urinary metabolomics to explore differences associated with estimated glomerular filtration rate (eGFR; CKD-EPI equation) and future eGFR decline.

Methods: Targeted, quantitative metabolic profiling (1H NMR-spectroscopy) was performed on baseline spot urine samples obtained from 501 patients with ADPKD. Read More

CEN Case Rep 2020 May 21. Epub 2020 May 21.

Department of Nephrology, Nephrology Center, Toranomon Hospital Kajigaya, Takatsu-ku Kajigaya 1-3-1, Kawasaki City, Kanagawa, 213-8587, Japan.

We report a case of superinfection of liver cysts caused by Candida albicans and Staphylococcus lugdunensis in a patient with autosomal dominant polycystic kidney disease. A 69-year-old man with chief complaints of headache and blurred vision was admitted to the former institution for the evaluation of suspected temporal arteritis. He was prescribed oral prednisolone (55 mg/day) as a preemptive treatment; however, he became febrile and presented with bilateral flank pain during prednisolone tapering. Read More

Urology 2020 May 11. Epub 2020 May 11.

Department of Urology, PGIMER, Chandigarh, India.

Autosomal dominant polycystic kidney disease is an inherited, progressive systemic disorder with both renal and extra renal involvement. Commonest presentation is clusters of cysts in the kidney. About 75% develop end stage renal disease by 70 years of age. Read More

Curr Opin Nephrol Hypertens 2020 Jul;29(4):432-438

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Purpose Of Review: Metabolic reprogramming is a prominent feature of cyst epithelial cells in autosomal dominant polycystic kidney disease (ADPKD). Peroxisome proliferator activated receptor alpha (PPARα) is a transcription factor that regulates many aspects of cellular metabolism. The purpose of this review is to understand the role of PPARα in ADPKD. Read More

Clin Res Cardiol 2020 May 14. Epub 2020 May 14.

Department of Cardiology, Rhythmology and Medical Intensive Care, Krankenhaus Koln-Merheim Medizinische Klinik I, Cologne, Germany.

Genet Med 2020 May 13. Epub 2020 May 13.

Department of Internal Medicine, Division of Nephrology, University Hospital Leipzig, Leipzig, Germany.

Purpose: Autosomal dominant polycystic kidney disease (ADPKD) represents the most common hereditary nephropathy. Despite growing evidence for genetic heterogeneity, ADPKD diagnosis is still primarily based upon clinical imaging criteria established before discovery of additional PKD genes. This study aimed at assessing the diagnostic value of genetic verification in clinical ADPKD. Read More

Pediatr Res 2020 May 11. Epub 2020 May 11.

Mayo Clinic College of Medicine, Rochester, MN, USA.

Background: The phase 3 Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease and Its Outcomes (TEMPO 3:4) clinical trial demonstrated the beneficial effect of tolvaptan on kidney growth and function in subjects aged 18-50 years over a 3-year period. However, it did not specifically assess the use of tolvaptan in adolescents and young adults (AYAs) with ADPKD.

Methods: A post hoc analysis of the TEMPO 3:4 trials was performed for patients aged 18-24 years. Read More

Clin Exp Nephrol 2020 May 8. Epub 2020 May 8.

Department of Urology, the First Affiliated Hospital of Anhui Medical University, Jixi Road #218, Hefei, Anhui, 230022, P.R. China.

Objectives: Patients with autosomal dominant polycystic kidney disease (ADPKD) showed relatively high incidence of urinary stones. Enlarged kidneys occupied by cysts could make the stone-removal surgery relatively difficult. This study aimed to compare the efficacy and safety of retroperitoneal laparoscopic ureterolithotomy (RPLU), flexible ureteroscopic lithotripsy (FURL) and percutaneous nephrolithotomy (PCNL) in the ADPKD patients with upper urinary stones. Read More

Medicine (Baltimore) 2020 May;99(19):e20071

Internal Medicine, Hallym University Medical Center, Chuncheon Sacred Heart Hospital, Chuncheon-si, Gangwon-do, Republic of Korea.

Renal cell carcinoma (RCC) is known to be more prevalent in autosomal dominant polycystic kidney disease (ADPKD) patients than in the general population. However, little is known about genetic alterations or changes in signaling pathways in RCC in patients with ADPKD.In the current report, whole-exome and transcriptome sequencing was performed for paired samples of tumor tissue, cyst tissue, and peripheral blood (triple set) from a patient diagnosed with ADPKD and RCC. Read More

J Med Genet 2020 May 7. Epub 2020 May 7.

Medical Department III - Endocrinology, Nephrology, Rheumatology, University of Leipzig Medical Center, Leipzig, Saxony, Germany

Purpose: Autosomal dominant polycystic kidney disease (ADPKD), caused by pathogenic variants of either or , is characterised by wide interfamilial and intrafamilial phenotypic variability. This study aimed to determine the molecular basis of marked clinical variability in ADPKD family members and sought to analyse whether alterations of (Wilms tumour 1), encoding a regulator of gene expression, may have an impact on renal cyst formation.

Methods: ADPKD family members underwent clinical and molecular evaluation. Read More

Am J Kidney Dis 2020 Apr 28. Epub 2020 Apr 28.

Sydney School of Public Health, The University of Sydney, Sydney, Australia; Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, Australia.

Rationale & Objective: Outcomes reported in trials involving patients with autosomal dominant polycystic kidney disease (ADPKD) are heterogeneous and rarely include patient-reported outcomes. We aimed to identify critically important consensus-based core outcome domains to be reported in trials in ADPKD.

Study Design: An international 2-round online Delphi survey was conducted in English, French, and Korean languages. Read More

Front Genet 2020 15;11:348. Epub 2020 Apr 15.

Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

Autosomal dominant polycystic kidney disease (ADPKD) is a heritable disease characterized by bilateral renal enlargement due to the growth of cysts throughout the kidneys. Inheritance of a disease-causing mutation is required to develop ADPKD, which results in end-stage kidney disease and is associated with a high morbidity. The pathology underlying cyst formation is not well understood. Read More

J Cell Biol 2020 Jun;219(6)

Department of Cellular Biology, University of Georgia, Athens, GA.

Mutations in the channel protein PKD2 cause autosomal dominant polycystic kidney disease, but the function of PKD2 in cilia remains unclear. Here, we show that PKD2 targets and anchors mastigonemes, filamentous polymers of the glycoprotein MST1, to the extracellular surface of Chlamydomonas cilia. PKD2-mastigoneme complexes physically connect to the axonemal doublets 4 and 8, positioning them perpendicular to the plane of ciliary beating. Read More

Signal Transduct Target Ther 2020 Apr 29;5(1):45. Epub 2020 Apr 29.

Department of Physiology, College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA.

Previous studies by us and others demonstrated that activation of Wnt/β-catenin signaling plays a pathogenic role in chronic kidney diseases (CKD). Wnt co-receptor LRP5 variants are reported to associate with autosomal dominant polycystic kidney disease; but their exact roles in this disease and renal fibrosis have not been explored. Here, we observed the upregulation of LRP5 in the renal tubules of both type 1 and type 2 diabetic models and of an obstructive nephropathy model. Read More