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Clin J Am Soc Nephrol 2021 Jun 11;16(6):908-915. Epub 2021 Jun 11.

University of Colorado Anschutz Medical Campus, Aurora, Colorado.

Background And Objectives: On the basis of earlier observations, we evaluated the association between overweight and obesity and rapid progression of autosomal dominant polycystic kidney disease in participants in the Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease and Its Outcomes (TEMPO) 3:4 trial. More importantly, we also determined whether efficacy of tolvaptan was attenuated in individuals with baseline overweight or obesity.

Design, Setting, Participants, & Measurements: A total of 1312 study participants with relatively early-stage autosomal dominant polycystic kidney disease (mean eGFR 78±22 ml/min per 1. Read More

Clin J Am Soc Nephrol 2021 Jun;16(6):850-852

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

Clin Genet 2021 Jun 7. Epub 2021 Jun 7.

Department of Nephrology, Changzheng Hospital, Naval Medical University, Shanghai, China.

PKD2 gene variants account for 4.5% to 20% of patients with autosomal dominant polycystic kidney disease (ADPKD). Little is known about the clinical characteristics of PKD2 variants in Chinese patients with ADPKD. Read More

Clin Exp Nephrol 2021 Jun 4. Epub 2021 Jun 4.

Department of Advanced Informatics for Genetic Disease, Juntendo University Graduate School of Medicine, Hongo 2-1-1, Bunkyo-ku, Tokyo, 113-8421, Japan.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a progressive condition that eventually leads to end-stage renal disease. A phase 3 trial of tolvaptan (TEMPO 3:4; NCT00428948) and its open-label extension (TEMPO Extension Japan: TEMPO-EXTJ; NCT01280721) were conducted in patients with ADPKD. In this post hoc analysis, effects on renal function and the safety profile of tolvaptan were assessed over a long-term period that included the 3-year TEMPO 3:4 and the approximately 3-year TEMPO-EXTJ trials. Read More

Orphanet J Rare Dis 2021 Jun 2;16(1):251. Epub 2021 Jun 2.

Department of Renal Medicine, University College London and Paediatric Nephrology Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

Background: The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological information, identify current patient cohort for clinical research, explore diagnostic and therapeutic management practices, and monitor treatment performance and patient's outcomes. The registry has a modular design that allows to integrate comprehensive disease-specific registries as extensions to the core database. Read More

Intern Med 2021 May 29. Epub 2021 May 29.

Department of Nephrology, Toranomon Hospital, Japan.

We herein report a 70-year-old man with malaise and muscle weakness that had developed within a month. The patient also had abdominal fullness due to polycystic kidney disease. Severe proximal skeletal muscle weakness and mild elevation of creatinine kinase to 301 IU/L were noted. Read More

PLoS One 2021 27;16(5):e0252479. Epub 2021 May 27.

Australasian Kidney Trials Network, University of Queensland, Brisbane, QLD, Australia.

Pain is a common symptom in people with autosomal dominant polycystic kidney disease (ADPKD), but it is assessed and reported inconsistently in research, and the validity of the measures remain uncertain. The aim of this study was to identify the characteristics, content, and psychometric properties of measures for pain used in ADPKD. We conducted a systematic review including all trials and observational studies that reported pain in people with ADPKD. Read More

Int J Stroke 2021 May 27:17474930211024584. Epub 2021 May 27.

University medical Center Utrecht, Neurology, Heidelberglaan 100, Utrecht, Netherlands.

Background: Subarachnoid hemorrhage from rupture of an intracranial aneurysm (aneurysmal subarachnoid hemorrhage, ASAH) is a devastating subset of stroke. Since brain damage from the initial hemorrhage is a major cause for the poor outcome after ASAH, prevention of ASAH has the highest potential to prevent poor outcome from ASAH.

Aim: In this review, we describe the groups at high risk of ASAH who may benefit from preventive screening for unruptured intracranial aneurysms (UIA) followed by preventive treatment of UIAs found. Read More

Indian J Nucl Med 2021 Jan-Mar;36(1):43-45. Epub 2021 Mar 4.

Department of Nuclear Medicine and PET-CT, Apollo Gleneagles Hospitals, Kolkata, West Bengal, India.

Fever of unknown origin (FUO) is a convoluted clinical dilemma. It can be caused by infective, inflammatory, malignant, and other pathologies. The identification of etiopathogenesis is essential for instituting definitive management. Read More

Langenbecks Arch Surg 2021 May 26. Epub 2021 May 26.

Department of General, Visceral and Vascular Surgery, University Hospital Jena, Am Klinikum 1, 07747, Jena, Germany.

Purpose: In patients suffering from autosomal dominant polycystic liver and kidney disease (ADPLKD), combined organ transplantation often poses a technical challenge due to the large volume of both organs. To simplify the transplantation procedure by improving the exposure of anatomical structures, we introduce a novel surgical technique of orthotopic liver and kidney transplantation.

Methods: The modified simultaneous liver and kidney transplantation technique via a right-sided L-incision included three steps: (1) right-sided nephrectomy in the recipient followed by (2) orthotopic liver transplantation in cava replacement technique and (3) the orthotopic kidney transplantation with arterial reconstruction to the right common iliac artery. Read More

J Cell Mol Med 2021 May 25. Epub 2021 May 25.

Department of Ophthalmology, Xiang'an Hospital of Xiamen University, Fujian Provincial Key Laboratory of Ophthalmology and Visual Science, School of Medicine, Xiamen University, Fujian Engineering and Research Center of Eye Regenerative Medicine, Eye Institute of Xiamen University, Xiamen, China.

Polycystic kidney disease (PKD) is known to occur in three main forms, namely autosomal dominant PKD (ADPKD), autosomal recessive PKD (ARPKD) and syndromic PKD (SPKD), based on the clinical manifestations and genetic causes, which are diagnosable from the embryo stage to the later stages of life. Selection of the genetic test for the individuals with diagnostic imaging reports of cystic kidneys without a family history of the disease continues to be a challenge in clinical practice. With the objective of maintaining a limit on the time and medical cost of the procedure, a practical strategy for genotyping and targeted validation to resolve cystogene variations was developed in our clinical laboratory, which combined the techniques of whole-exome sequencing (WES), Long-range PCR (LR-PCR), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to work in a stepwise approach. Read More

BMC Nephrol 2021 May 24;22(1):194. Epub 2021 May 24.

Department of renal medicine, Salford Royal NHS Foundation Trust, Stott Lane, Salford, M6 8HD, UK.

Background: The Kidney Failure Risk Equation (KFRE) predicts the 2- and 5-year risk of end-stage renal disease (ESRD) in patients with chronic kidney disease (CKD) stages 3a-5. Its predictive performance in advanced CKD and in specific disease aetiologies requires further exploration. This study validates the 4- and 8-variable KFREs in an advanced CKD population in the United Kingdom by evaluating discrimination, calibration and clinical utility. Read More

Clin J Gastroenterol 2021 May 24. Epub 2021 May 24.

Department of Molecular Gastroenterology and Hepatology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.

A 60-year-old man with autosomal dominant polycystic kidney disease presented with malaise, melena, and epigastric discomfort. Esophagogastroduodenoscopy revealed a massive elevated gastric cancer lesion involving the cardia. Histopathological evaluation of a biopsy specimen showed poorly differentiated adenocarcinoma. Read More

Urol Case Rep 2021 Sep 3;38:101701. Epub 2021 May 3.

Department of Urology, University of Maryland School of Medicine, 655 W. Baltimore Street, Baltimore MD 21201, USA.

We present a very rare Case of a 53-year-old female with autosomal dominant polycystic kidney disease (ADPKD) who was incidentally found to have a reno-appendiceal fistula while undergoing open bilateral nephrectomy. The mid-portion of the appendix was fistulized to a cyst in the lower pole of the right kidney. The etiology was likely due to chronic inflammation. Read More

Biochem Biophys Res Commun 2021 Jul 18;561:73-79. Epub 2021 May 18.

Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, 300070, China. Electronic address:

Metabolic reprogramming is emerging as a key pathological contributor to the progression of autosomal dominant polycystic kidney disease (ADPKD), but the molecular mechanisms underlying dysregulated cellular metabolism remain elusive. Here we report that amino acid biosynthesis is reprogrammed in Pkd2-knockout mouse kidneys via a defective PERK-eIF2ɑ-ATF4 pathway. Transcriptomic analysis revealed that the amino acid biosynthesis pathways such as serine, arginine and cysteine were impaired, and associated critical enzymes were downregulated in Pkd2-knockout mouse kidneys. Read More

Kidney Int Rep 2021 May 27;6(5):1482-1483. Epub 2021 Mar 27.

Division of Nephrology and Hypertension and the Kidney Institute, University of Kansas Medical Center, Kansas City, Kansas, USA.

Kidney Int Rep 2021 May 27;6(5):1482. Epub 2021 Mar 27.

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

J Nephrol 2021 May 19. Epub 2021 May 19.

Chair of Nephrology "Federico II", Department of Public Health, University of Naples, Via Sergio Pansini, 5, 80131, Naples, Italy.

Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder included in ciliopathies, representing the fourth cause of end stage renal disease (ESRD), with an estimated prevalence between 1:1000 and 1:2500. It is mainly caused by mutations in the PKD1 and PKD2 genes encoding for polycystin 1 (PC1) and polycystin 2 (PC2), which regulate differentiation, proliferation, survival, apoptosis, and autophagy. The advances in the knowledge of multiple molecular pathways involved in the pathophysiology of ADPKD led to the development of several treatments which are currently under investigation. Read More

Pediatr Nephrol 2021 May 18. Epub 2021 May 18.

Department of Neurology, Na Homolce Hospital, Prague, Czech Republic.

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. Kidney cysts form over the course of the disease and kidney function slowly declines, usually leading to kidney failure in middle to late adulthood. However, some symptoms, such as hypertension or proteinuria, can be present at an earlier age. Read More

Radiol Case Rep 2021 Jul 30;16(7):1643-1645. Epub 2021 Apr 30.

Department of Radiology, Northwell at Staten Island University Hospital, Staten Island, NY 11794, USA.

Atypical or unilateral polycystic kidney disease is a rare entity that is found incidentally and is characterized on imaging as asymmetric or unilateral distribution of cysts confined to the kidneys. We present a case of an incidental finding of atypical polycystic kidney disease in a 72-year-old male. Computed tomography imaging showed asymmetric distribution of cysts only in the kidneys and the patient had no genitourinary symptoms, had normal renal function, and did not have a family history of renal disease. Read More

Pan Afr Med J 2021 18;38:188. Epub 2021 Feb 18.

Department of Pediatrics, Military Teaching Hospital Mohammed V, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.

Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation; it often coexists with Caroli's disease, von Meyenburg complexes, autosomal dominant polycystic kidney disease (ADPKD), and autosomal recessive polycystic kidney disease (ARPKD). Although CHF was first named and described in detail by Kerr et al. in 1961. Read More

Int J Nephrol Renovasc Dis 2021 7;14:133-142. Epub 2021 May 7.

University of Maryland School of Medicine, Baltimore, MD, USA.

Background: Progression of autosomal dominant polycystic kidney disease (ADPKD) is highly variable, with some patients progressing rapidly to end-stage renal disease (ESRD). Abdominal imaging is an important modality for verifying diagnosis in patients at risk for rapidly progressing ADPKD, targeting them for early treatment that could slow onset of ESRD. Published literature is limited on the real-world abdominal imaging utilization patterns in ADPKD. Read More

Iran J Kidney Dis 2021 May;15(3):177-189

Maharaja Agrasen University (Department of Biotechnology, School of Basic and Applied sciences), Baddi (Solan, Himachal Pradesh), India.

Introduction: The mutational changes in Polycystin-1(PC-1) encoded by PKD1 gene is the main cause of Autosomal Dominant Polycystic kidney disease (ADPKD). The pathological changes in renal epithelial cells and multiple cyst formation occur due to activation of cascade of signalling pathways and membrane renal transporters (RTs). Our study have focused on the identification, of different RTs, their interactions with Polycystin-1 and other selected target proteins to find out their role in pathogenesis. Read More

BMC Nephrol 2021 May 15;22(1):178. Epub 2021 May 15.

Division of Nephrology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder that leads to end stage renal disease (ESRD). Cyst expansion in ADPKD is strongly associated with the decline in renal function. However, the correlation between total kidney volume (TKV) and glomerular filtration rate (GFR) at an early stage has not been well demonstrated. Read More

Front Pharmacol 2021 27;12:629848. Epub 2021 Apr 27.

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

Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary kidney disease, which is featured by progressively enlarged bilateral fluid-filled cysts. Enlarging cysts destroy the structure of nephrons, ultimately resulting in the loss of renal function. Eventually, ADPKD develops into end-stage renal disease (ESRD). Read More

Sci Rep 2021 May 11;11(1):10014. Epub 2021 May 11.

Department of Metabolism, Endocrinology and Molecular Medicine, Osaka City University Graduate School of Medicine, 1-4-3 Asahi-machi, Abeno-ku, Osaka, 545-8585, Japan.

A massively enlarged kidney can impact quality of life of autosomal dominant polycystic kidney disease (ADPKD) patients. A recent in vitro study demonstrated that an allosteric modulator of the calcium sensing receptor decreases adenosine-3',5'-cyclic monophosphate, an important factor for kidney enlargement in ADPKD. Therefore, the present study was performed to determine whether cinacalcet, a calcium sensing receptor agonist, suppresses kidney enlargement in hemodialysis patients with ADPKD. Read More

Curr Med Res Opin 2021 May 25:1-8. Epub 2021 May 25.

Health Economics and Outcomes Research, Otsuka Pharmaceutical Development & Commercialization, Inc, Princeton, NJ, USA.

Objectives: To evaluate geographic variation in the prevalence of autosomal dominant polycystic kidney disease (ADPKD) in the US, including ADPKD at risk of rapid progression.

Methods: Claims data from the IBM MarketScan Commercial and Medicare Supplemental databases (01/16/2016-12/31/2017) were used to estimate the 2017 annual and 2016-2017 two-year prevalence of diagnosed ADPKD and ADPKD at risk of rapid progression in the US overall, and stratified by census regions and states. Risk of rapid progression was identified based on either: hypertension <35 years, hematuria <30 years, albuminuria, stage 2 chronic kidney disease (CKD) <30 years, stage 3 CKD <50 years, and stage 4/5 CKD or kidney transplant <55 years. Read More

Am J Physiol Renal Physiol 2021 05 10. Epub 2021 May 10.

Pharmacology & Systems Physiology, University of Cincinnati, United States.

In 15% of cases, autosomal dominant polycystic kidney disease (ADPKD) arises from defects in polycystin-2 (PC2). PC2 is a member of the TRPP subfamily of cation-conducting channels and is expressed in the endoplasmic reticulum and primary cilium of renal epithelial cells. PC2 opposes a pro-cystogenic influence of the cilium, and it has been proposed that this beneficial effect is mediated in part by a flow of Ca through PC2 channels into the primary cilium. Read More

World J Clin Cases 2021 May;9(13):3095-3101

Department of Cardiology, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, China.

Background: When autosomal dominant polycystic kidney disease (ADPKD) presents with acute coronary syndrome (ACS), the possibility of spontaneous coronary artery dissection (SCAD) should be highly considered. In some cases, SCAD is considered an extrarenal manifestation of ADPKD depending on the pathological characteristics of the unstable arterial wall in ADPKD.

Case Summary: Here, we report a 46-year-old female patient with ADPKD who presented with ACS. Read More

World J Clin Cases 2021 Apr;9(12):2862-2867

Department of Surgery, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, Guangdong Province, China.

Background: Emphysema pyelonephritis (EPN) is a very dangerous type of urinary tract infection. It is a lethal disease that develops rapidly and causes the patient to deteriorate rapidly, and it can easily lead to systemic infections and even sepsis. The incidence is extremely low, and it is prevalent in patients with diabetes. Read More