Search Our Scientific Publications & Authors

Abdom Radiol (NY) 2019 Feb 19. Epub 2019 Feb 19.

Division of Nephrology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Objective: To compare diffusion tensor imaging (DTI) of the kidneys and its derived parameters in children with autosomal recessive polycystic kidney disease (ARPKD) versus healthy controls.

Methods: In a prospective IRB-approved study, we evaluated the use of DTI to compare kidney parenchyma FA values in healthy controls (age-matched children with no history of renal disease) versus patients with ARPKD. A 20-direction DTI with b-values of b = 0 s/mm and b = 400 s/mm was used to acquire data in coronal direction using a fat-suppressed spin-echo echo-planar sequence. Read More

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

Drug Metab Dispos 2019 Mar;47(3):328

Clin Exp Nephrol 2019 Feb 15. Epub 2019 Feb 15.

Department of Radiology, St. Marianna University School of Medicine, Kawasaki, Japan.

Purpose: To assess the safety and effectiveness of transcatheter arterial embolization (TAE) with tris-acryl gelatin microspheres for patients with symptomatic enlarged polycystic liver disease (PCLD).

Materials And Methods: This prospective study was approved by our hospital's institutional review board and planned for patients with symptoms related to enlarged PCLD, such as distended abdomen, gastrointestinal obstruction and abdominal pain. Hemi-hepatic embolization with tris-acryl gelatin microspheres was performed in the hepatic artery supplying the hepatic lobe that showed the predominant presence of cysts. Read More

Metabolites 2019 Feb 14;9(2). Epub 2019 Feb 14.

Separation Science and Metabolomics Laboratory, Murdoch University, 90 South Street, Perth 6150, Australia.

Diseases of the kidney are difficult to diagnose and treat. This review summarises the definition, cause, epidemiology and treatment of some of these diseases including chronic kidney disease, diabetic nephropathy, acute kidney injury, kidney cancer, kidney transplantation and polycystic kidney diseases. Numerous studies have adopted a metabolomics approach to uncover new small molecule biomarkers of kidney diseases to improve specificity and sensitivity of diagnosis and to uncover biochemical mechanisms that may elucidate the cause and progression of these diseases. 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

G Ital Nefrol 2019 Feb;36(1)

UO Nefrologia e Dialisi, Policlinico Germaneto, Catanzaro.

Biliary hamartomas (BH) are rare benign lesions of the liver characterized by a dilation of a variable number of small biliary ducts, usually surrounded by abundant fibrotic tissue. These malformations are due to an aberrant remodelling of the ductal plate, that is the embryonic structure generating the normal biliary tree. BH are usually asymptomatic, but in rare cases they can be associated with jaundice, heartburn and fever. 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

EBioMedicine 2019 Feb 7. Epub 2019 Feb 7.

Department of Physiology, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA; Clement J. Zablocki VA Medical Center, 5000 West National Avenue, Milwaukee, WI, 53295, USA. Electronic address:

Background: Autosomal Recessive Polycystic Kidney Disease (ARPKD) is marked by cyst formation in the renal tubules, primarily in the collecting duct (CD) system, ultimately leading to end-stage renal disease. Patients with PKD are generally advised to restrict their dietary sodium intake. This study was aimed at testing the outcomes of dietary salt manipulation in ARPKD. Read More

Nat Microbiol 2019 Feb 11. Epub 2019 Feb 11.

MOE Laboratory of Protein Science and Collaborative Innovation Center of Biotherapy, School of Medicine, Tsinghua University, Beijing, China.

Adeno-associated virus (AAV) is a leading vector for virus-based gene therapy. The receptor for AAV (AAVR; also named KIAA0319L) was recently identified, and the precise characterization of AAV-AAVR recognition is in immediate demand. Taking advantage of a particle-filtering algorithm, we report here the cryo-electron microscopy structure of the AAV2-AAVR complex at 2. Read More

Nature 2019 02;566(7742):39

Respir Physiol Neurobiol 2019 Feb 2;262:57-66. Epub 2019 Feb 2.

Department of Biomedical Sciences, Macquarie University, Australia. Electronic address:

Respiratory modulation of sympathetic nerve activity (respSNA) was studied in a hypertensive rodent model of chronic kidney disease (CKD) using Lewis Polycystic Kidney (LPK) rats and Lewis controls. In adult animals under in vivo anaesthetised conditions (n = 8-10/strain), respiratory modulation of splanchnic and renal nerve activity was compared under control conditions, and during peripheral (hypoxia), and central, chemoreceptor (hypercapnia) challenge. RespSNA was increased in the LPK vs. 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

Connect Tissue Res 2019 Feb 5:1-10. Epub 2019 Feb 5.

f Waitemata District Health Board , University of Auckland, and Geriatrician , Auckland , New Zealand.

Purpose: An underlying connective tissue disorder (CTD) may predispose to formation of intestinal diverticula. We assess the association of diverticulosis with nine selected CTDs, to inform the pathophysiology of diverticula.

Methods: A population-based period-prevalence study. Read More

Life Sci 2019 Mar 29;220:44-49. Epub 2019 Jan 29.

Department of Psychiatry and Human Behavior, University of Mississippi Medical Center, United States of America; Women's Health Research Center, University of Mississippi Medical Center, United States of America. Electronic address:

The immune etiology of polycystic ovary syndrome (PCOS) is an intriguing area. However, whether there is alteration in the leukocyte populations in different tissues remain ambiguous.

Aim: To characterize the leukocyte populations of hyperandrogenemic female (HAF) rat tissues. 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

Sci Rep 2019 Jan 31;9(1):1069. Epub 2019 Jan 31.

Department of Biology, Indiana University - Purdue University Indianapolis, Indianapolis, IN, 46202, USA.

Transmembrane protein 67 (TMEM67) is mutated in Meckel Gruber Syndrome type 3 (MKS3) resulting in a pleiotropic phenotype with hydrocephalus and renal cystic disease in both humans and rodent models. The precise pathogenic mechanisms remain undetermined. Herein it is reported for the first time that a point mutation of TMEM67 leads to a gene dose-dependent hydrocephalic phenotype in the Wistar polycystic kidney (Wpk) rat. Read More

Nature 2019 01;565(7741):535-536

Sci Rep 2019 Jan 28;9(1):806. Epub 2019 Jan 28.

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

Capillary electrophoresis-mass spectrometry (CE-MS) using a sheathless porous tip interface emerged as an attractive tool in metabolomics thanks to its numerous advantages. One of the main advantages compared to the classical co-axial sheath liquid interface is the increased sensitivity, while maintaining the inherent properties of CE, such as a high separation efficiency and low sample consumption. Specially, the ability to perform nanoliter-based injections from only a few microliters of material in the sample vial makes sheathless CE-MS a well-suited and unique approach for highly sensitive metabolic profiling of limited sample amounts. 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

Front Pediatr 2018 11;6:422. Epub 2019 Jan 11.

Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Children's Memorial Health Institute, Warsaw, Poland.

Congenital hepatic fibrosis (CHF) is invariably present in all patients with autosomal recessive polycystic kidney disease (ARPKD) but is usually clinically asymptomatic. The portal hypertension in the course of CHF develops and progresses over time, so an early detection of liver fibrosis remains crucial. The aim of the study was to evaluate a predictive value of transient elastography for evaluating liver disease progress in pediatric ARPKD patients. Read More

Int Heart J 2019 ;60(1):10-11

Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo.

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

Postepy Biochem 2018 12;64(4):338-350

Pracownia Białek Wiążących Wapń, Instytut Biologii Doświadczalnej im. M. Nenckiego PAN, Warszawa.

Ciliopathies are a group of genetic diseases caused by defects in the function of cilia, that are cellular processes composed of a microtubule-based core. Ciliopathies present with pathological changes in one or many organs at the same time. Symptoms of ciliopathies depend on the type of damaged tissues and organs. Read More

Biochem Biophys Rep 2019 Mar 11;17:169-176. Epub 2019 Jan 11.

Department of Veterinary Pharmacology, University of Miyazaki, Miyazaki 889-2192, Japan.

Aquaporin-11 (AQP11) is an intracellular AQP. Several studies with mice have shown that AQP11 has a role in normal development of the kidney after birth. Our previous studies have suggested that alteration of oxygen homeostasis may be involved in the kidney injury caused by AQP11 deficiency, although the underlying mechanism is largely unknown. Read More

Cells 2019 Jan 16;8(1). Epub 2019 Jan 16.

Department of Cardiology, Chang Gung Memorial Hospital, and Chang Gung University College of Medicine, Taoyuan City 333, Taiwan.

Autophagy is a cellular recycling process involving self-degradation and reconstruction of damaged organelles and proteins. Current evidence suggests that autophagy is critical in kidney physiology and homeostasis. In clinical studies, autophagy activations and inhibitions are linked to acute kidney injuries, chronic kidney diseases, diabetic nephropathies, and polycystic kidney diseases. Read More

Int J Mol Sci 2019 Jan 16;20(2). Epub 2019 Jan 16.

State Key Laboratory of Natural and Biomimetic Drugs, Department of Pharmacology, School of Basic Medical Sciences, Peking University, Beijing 100038, China.

Aquaporins (AQPs) are a family of highly selective transmembrane channels that mainly transport water across the cell and some facilitate low-molecular-weight solutes. Eight AQPs, including AQP1, AQP2, AQP3, AQP4, AQP5, AQP6, AQP7, and AQP11, are expressed in different segments and various cells in the kidney to maintain normal urine concentration function. AQP2 is critical in regulating urine concentrating ability. Read More

Curr Opin Gastroenterol 2019 Mar;35(2):65-72

Department of Gastroenterology and Hepatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands.

Purpose Of Review: This review provides an outline of the most recent insights and significant discoveries regarding the genetic mechanisms involved in polycystic liver disease.

Recent Findings: Polycystic liver disease includes a heterogeneous group of genetic disorders characterized by multiple hepatic cysts. Isolated liver cysts are caused by mutations in Protein Kinase C Substrate 80K-H (PRKCSH), SEC63, and LDL Receptor Related Protein 5 (LRP5), whereas Polycystic Kidney Disease (PKD)1, PKD2, and PKHD1 mutations cause kidney cysts often accompanied by liver cysts. 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

Am J Physiol Renal Physiol 2019 Jan 16. Epub 2019 Jan 16.

Medicine, University of Colorado, United States.

In inflammatory diseases, the 5-lipoxygenase (5-LO) pathway contributes to epithelial damage and fibrosis by catalyzing the production of leukotrienes. Antagonists of the 5-LO pathway are currently approved for use in patients and are well tolerated. We found that expression of 5-LO is strongly induced in three models of chronic kidney disease, unilateral ureteral obstruction (UUO), folate nephropathy, and an orthologous mouse model of polycystic kidney disease. 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

BMC Nephrol 2019 Jan 14;20(1):19. Epub 2019 Jan 14.

Section of Nephrology, Department of Medicine, Regina General Hospital, 1440, 14th Avenue, Regina, S4P 0W5, Canada.

Background: We report a 61-year-old female with end-stage renal disease (ESRD) secondary to polycystic kidney disease (PKD) complicated by intradialytic hypertension (IDH). Increased sympathetic drive leading to increased stroke volume and/or vasoconstriction with an inappropriate increase in peripheral vascular resistance (PVR) has been postulated to be the cause of IDH.

Case Presentation: Attempts to control her blood pressure by reducing her goal weight; increasing dialysis times/ frequency and decreasing her sodium concentrate in the dialysis fluid were unsuccessful. Read More