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Comput Biol Med 2022 Jul 9;146:105431. Epub 2022 Apr 9.

Department of Management, Information and Production and Engineering, University of Bergamo, Dalmine, BG, Italy. Electronic address:

Autosomal Dominant Polycystic Kidney Disease is a genetic disease that causes uncontrolled growth of fluid-filled cysts in the kidney. Kidney enlargement resulting from the expansion of cysts is continuous and often associated with decreased renal function and kidney failure. Mouse and rat models are necessary to discover new drugs able to halt the progression of the disease. Read More

J Nephrol 2022 Jun 24. Epub 2022 Jun 24.

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

Simple renal cysts are a common finding during abdominal imaging assessment. The incidence increases with age and it is higher in male gender. Parapelvic cysts are a subset of simple cysts that arise within the renal parenchyma, adjacent to the renal sinus, characterized by being generally single, larger, and incompletely surrounded by renal parenchyma. Read More

FEBS Open Bio 2022 Jun 24. Epub 2022 Jun 24.

Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, Xuzhou Medical University, Xuzhou, 221004, Jiangsu, China.

Renal cyst development and expansion in autosomal dominant polycystic kidney disease (ADPKD) involves over-proliferation of cyst-lining epithelial cells and excessive cystic fluid secretion. While metformin effectively inhibits renal cyst growth in mouse models of ADPKD it exhibits low potency, and thus an AMPK activator with higher potency is required. Herein, we adopted a drug repurposing strategy to explore the potential of PF-06409577, an adenosine monophosphate-activated protein kinase (AMPK) activator for diabetic nephropathy, in cellular, ex vivo and in vivo models of ADPKD. Read More

Molecules 2022 Jun 15;27(12). Epub 2022 Jun 15.

College of Medicine and Public Health, Ubon Ratchathani University, Sathonlamark Road, Warin Chamrap, Ubon Ratchathani 34190, Thailand.

Abnormal cell proliferation and accumulation of fluid-filled cysts along the nephrons in polycystic kidney disease (PKD) could lead to a decline in renal function and eventual end-stage renal disease (ESRD). Gambogic acid (GA), a xanthone compound extracted from the brownish resin of the tree, exhibits various pharmacological properties, including anti-inflammation, antioxidant, anti-proliferation, and anti-cancer activity. However, its effect on inhibiting cell proliferation in PKD is still unknown. Read More

Int J Mol Sci 2022 Jun 14;23(12). Epub 2022 Jun 14.

HEMATIM UR 4666, C.U.R.S, Université de Picardie Jules Verne, CEDEX 1, 80025 Amiens, France.

Renal diseases include different pathologies, such as acute kidney injury (AKI), chronic kidney disease (CKD), end-stage renal disease (ESRD), diabetic nephropathy (DN), kidney cancer, polycystic kidney disease, etc [... Read More

In Vivo 2022 Jul-Aug;36(4):1994-1997

Nephrology, Dialysis and Kidney Transplantation Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy;

Background: Patients with autosomal dominant polycystic kidney disease (ADPKD) may require specific therapy with vasopressin receptor antagonists to slow the progression of renal disease. Because of its mechanism of action, the most common side effects are polyuria, nocturia, and polydipsia. Elevations of liver enzyme levels can also occur during treatment with Tolvaptan. Read More

Pediatr Nephrol 2022 Jun 21. Epub 2022 Jun 21.

PKD Research Group, GPURE, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

Ultrasound Obstet Gynecol 2022 Jun 21. Epub 2022 Jun 21.

Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Objective: To evaluate the utility of trio-based prenatal exome sequencing (pES) incorporating splice-site and mitochondrial genome assessment in the prenatal diagnosis of fetuses with structural anomalies and normal CNV-seq results.

Methods: This prospective study included 90 ongoing pregnancies with ultrasound structural anomalies who underwent trio-based pES after receiving normal CNV-seq results from September 2020 to November 2021. By using pES with a panel encompassing exome coding and splicing regions as well as mitochondrial genome for fetuses and parents, we identified the underlying genetic cause of fetal structural anomalies, fetal incidental findings as well as parental carrier status. Read More

Clin J Am Soc Nephrol 2022 Jun 20. Epub 2022 Jun 20.

Section of Nephrology, Department of Medicine, University of Chicago, Chicago, Illinois.

Background And Objectives: Autosomal dominant polycystic kidney disease (ADPKD) occurs at conception and is often diagnosed decades prior to kidney failure. Nephrology care and transplantation access should be independent of race and ethnicity. However, institutional racism and barriers to health care may affect patient outcomes in ADPKD. Read More

Clin J Am Soc Nephrol 2022 Jun 20. Epub 2022 Jun 20.

Mooresville, North Carolina

Cureus 2022 May 16;14(5):e25045. Epub 2022 May 16.

Department of Nephrology, McMaster University, Hamilton, CAN.

Background and objective Autosomal-dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder; it affects people of all ethnic groups and is found in up to 10% of patients with end-stage renal disease (ESRD). Dietary intervention is important in people with renal disease, and it has been linked to greater estimated glomerular filtration rate (eGFR) preservation. Tolvaptan, an orally-active nonpeptide, selective arginine vasopressin (AVP) V2R antagonist, was recently licensed in numerous countries for the treatment of ADPKD. Read More

BMJ Open 2022 Jun 15;12(6):e055780. Epub 2022 Jun 15.

James Lind Alliance, Southampton, UK.

Objectives: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney condition, accounting for 7%-10% of patients with kidney failure. Fundamental basic science and clinical research on ADPKD is underway worldwide but no one has yet considered which areas should be prioritised to maximise returns from limited future funding. The Polycystic Kidney Disease Charity began a priority setting partnership with the James Lind Alliance (JLA) in the UK in 2019-2020 to identify areas of uncertainty in the ADPKD care pathway and allow patients, carers and healthcare professionals to rank the 10 most important questions for research. Read More

Kidney Dis (Basel) 2022 May 11;8(3):181-189. Epub 2022 Apr 11.

Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Background: Many renal diseases have been associated with profound clinical effects on thrombosis. To our knowledge, patients with nephrotic syndrome (NS) and chronic kidney disease (CKD) display an elevated risk of vein thrombosis, which is among the common causes of mortality in patients with renal diseases. In addition, venous thrombosis, as a complication, has also been reported in a variety of other renal diseases such as glomerulonephritis without the NS, hypertensive nephropathy, and polycystic kidney disease. Read More

Kidney Dis (Basel) 2022 May 26;8(3):246-252. Epub 2021 Nov 26.

Nephrology Center, Toranomon Hospital, Tokyo, Japan.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease and is well known to have extrarenal complications. Cardiovascular complications are of particular clinical relevance because of their morbidity and mortality; however, unclear is why they occur so frequently in patients with ADPKD and whether they are related to the genotypes.

Methods: We extracted and retrospectively analyzed clinical data on patients with ADPKD who underwent echocardiography and whose genotype was confirmed by genetic testing between April 2016 and December 2020. Read More

EMBO Rep 2022 Jun 13:e54315. Epub 2022 Jun 13.

Institute of Innate Immunity, Medical Faculty, University of Bonn, Bonn, Germany.

The primary cilium constitutes an organelle that orchestrates signal transduction independently from the cell body. Dysregulation of this intricate molecular architecture leads to severe human diseases, commonly referred to as ciliopathies. However, the molecular underpinnings how ciliary signaling orchestrates a specific cellular output remain elusive. Read More

Front Physiol 2022 25;13:898508. Epub 2022 May 25.

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

The SLC9 gene family encodes Na/H exchangers (NHEs), a group of membrane transport proteins critically involved in the regulation of cytoplasmic and organellar pH, cell volume, as well as systemic acid-base and volume homeostasis. NHEs of the SLC9A subfamily (NHE 1-9) are well-known for their roles in human physiology and disease. Much less is known about the two members of the SLC9B subfamily, NHA1 and NHA2, which share higher similarity to prokaryotic NHEs than the SLC9A paralogs. Read More

Purinergic Signal 2022 Jun 10. Epub 2022 Jun 10.

Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

P2 purinergic receptors are involved in the normal function of the kidney, bladder, and prostate via signaling that occurs in response to extracellular nucleotides. Dysregulation of these receptors is common in pathological states and often associated with disease initiation, progression, or aggressiveness. Indeed, P2 purinergic receptor expression is altered across multiple urologic disorders including chronic kidney disease, polycystic kidney disease, interstitial cystitis, urinary incontinence, overactive bladder syndrome, prostatitis, and benign prostatic hyperplasia. Read More

Genes Dis 2022 Jul 3;9(4):981-999. Epub 2021 Jun 3.

Department of Medical Laboratory Science, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, PR China.

Activating transcription factors, ATFs, are a group of bZIP transcription factors that act as homodimers or heterodimers with a range of other bZIP factors. In general, ATFs respond to extracellular signals, indicating their important roles in maintaining homeostasis. The ATF family includes ATF1, ATF2, ATF3, ATF4, ATF5, ATF6, and ATF7. Read More

Cureus 2022 May 4;14(5):e24719. Epub 2022 May 4.

Nephrology, Grandview Medical Center, Dayton, USA.

Unilateral renal cystic disease has been mostly reported in older male patients; however, this case is novel as the youngest reported case in the literature and in a female patient. We present a 22-year-old female with no past medical history and no family history of renal disease that was incidentally found to have unilateral renal cystic disease on computed tomography imaging. The patient's renal function was not impaired and the cystic kidney was found to be functioning appropriately on an intravenous pyelogram. Read More

Clin Kidney J 2022 Jun 13;15(6):1079-1092. Epub 2021 Sep 13.

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

Background: Our laboratory published the first evidence that nutritional ketosis, induced by a ketogenic diet (KD) or time-restricted diet (TRD), ameliorates disease progression in polycystic kidney disease (PKD) animal models. We reasoned that, due to their frequent use for numerous health benefits, some autosomal dominant PKD (ADPKD) patients may already have had experience with ketogenic dietary interventions (KDIs). This retrospective case series study is designed to collect the first real-life observations of ADPKD patients about safety, feasibility and possible benefits of KDIs in ADPKD as part of a translational project pipeline. Read More

Clin Kidney J 2022 Jun 31;15(6):1179-1187. Epub 2022 Jan 31.

Unità Operativa Nefrologia, Azienda-Ospedaliero Universitaria di Parma & Dipartimento di Medicina e Chirurgia, Università di Parma, Parma, Italy.

Background: Polycystic kidney diseases (PKD) are an important cause of chronic kidney disease (CKD). Autosomal dominant polycystic kidney disease (ADPKD) due to or mutations is the most common form, but other genes can be responsible for ADPKD and its phenocopies. Among them, a form of atypical ADPKD caused by mutations (DNAJB11-PKD) has been recently described. Read More

Clin Kidney J 2022 Jun 21;15(6):1034-1036. Epub 2022 Apr 21.

Inherited Kidney Disorders, Department of Nephrology, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease leading to kidney failure. To date, there is no cure for the disease although there is one approved disease-modifying therapy: tolvaptan. In this context, a common question that ADPKD patients ask in clinical practice is whether there is anything they can do to slow their disease by modifying their diet or lifestyle. Read More

World J Transplant 2022 May;12(5):100-111

Surgical and Abdominal Transplantation Unit, University Clinics Saint Luc, Brussels 1200, Belgium.

Background: The lack of space, as an indication for a native unilateral nephrectomy for positioning a future kidney graft in the absence of other autosomal dominant polycystic kidney disease-related symptoms, remains controversial.

Aim: To evaluate the surgical comorbidity and the impact on graft survival of an associated ipsilateral native nephrectomy during isolated kidney transplantation in patients with autosomal dominant polycystic kidney disease.

Methods: One hundred and fifty-four kidney transplantations performed between January 2007 and January 2019 of which 77 without (kidney transplant alone (KTA) group) and 77 with associated ipsilateral nephrectomy (KTIN group), were retrospectively reviewed. Read More

Front Pharmacol 2022 18;13:885457. Epub 2022 May 18.

Department of Medical Science and Cardiorenal Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Tolvaptan is the gold standard treatment for autosomal dominant polycystic kidney disease (ADPKD), while several other drugs have the potential to inhibit the progression of ADPKD. However, individual clinical trials may not show sufficient differences in clinical efficacy due to small sample sizes. Furthermore, the differences in therapeutic efficacy among drugs are unclear. Read More

Neuroendocrinology 2022 Jun 2. Epub 2022 Jun 2.

Introduction: Angiotensin (Ang) II signalling in the hypothalamic paraventricular nucleus (PVN) via angiotensin type-1a receptors (AT1R) regulates vasopressin release and sympathetic nerve activity - two effectors of blood pressure regulation. We determined the cellular expression and function of AT1R in the PVN of a rodent model of polycystic kidney disease (PKD), the Lewis Polycystic Kidney (LPK) rat, to evaluate its contribution to blood pressure regulation and augmented vasopressin release in PKD.

Methods: PVN AT1R gene expression was quantified with fluorescent in-situ hybridisation in LPK and control rats. Read More

World J Clin Cases 2022 Apr;10(10):3060-3068

Dermatological Department, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University, Beijing 101100, China.

Background: Polycystic ovary syndrome (PCOS) is characterized by hyperandrogenism, hyperinsulinemia, ovarian polycystic changes, and irregular ovulation, often occurring in women of childbearing age for whom it can be a cause of infertility. Hypothalamus-pituitary-ovarian axis dysregulation is important in the pathogenesis of PCOS and the associated chronic excess of sex hormones can lead to cardiovascular and cerebrovascular diseases, diabetes, and malignancies such as endometrial cancer, and breast cancer. At present, most scholars agree that lifestyle interventions in conjunction with drug treatment can help PCOS patients achieve their goals of successful pregnancy and childbirth. Read More

Front Oncol 2022 12;12:876217. Epub 2022 May 12.

Department of Urology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

Introduction: Giant, cystic renal tumors are generally considered relatively contraindicated for laparoscopic surgery. We report on a 19-year-old male, where polycystic lesions in the left kidney were accidentally noted by enhanced computed tomography (CT) by focusing on the diagnostic, clinical, and surgery to the patient.

Case Report: Enhanced CT scan revealed solid component in multiple cystic lesions of Bosniak IV, which was enhanced after injection of contrast agent and the left kidney lost normal profile and enlarged with maximal diameter more than 18cm. Read More

Kidney Int 2022 May 27. Epub 2022 May 27.

Department of Anatomy and Cell Biology, The Jared Grantham Kidney Institute, University of Kansas Medical Center, Kansas City, Kansas, USA. Electronic address:

Primary cilia are sensory organelles built and maintained by intraflagellar transport (IFT) multiprotein complexes. Deletion of several IFT-B genes attenuates polycystic kidney disease (PKD) severity in juvenile and adult autosomal dominant polycystic kidney disease (ADPKD) mouse models. However, deletion of an IFT-A adaptor, Tulp3, attenuates PKD severity in adult mice only. Read More

Clin Gastroenterol Hepatol 2022 May 25. Epub 2022 May 25.

Division of Gastroenterology & Hepatology, Medical College of Georgia/Augusta University, Augusta, Georgia.

Genet Mol Biol 2022 27;45(2):e20200387. Epub 2022 May 27.

Chinese Academy of Medical Sciences and Peking Union Medical College, Peking Union Medical College Hospital, Department of Urology, Beijing, China.

We sought to explore the relationship between renal lesion features and genetic mutations in tuberous sclerosis complex (TSC) patients. TSC patients with renal lesions were subjected to TSC1/2 gene next-generation sequencing (NGS). TSC1/2 mutation types and imaging examinations were screened for combined analysis of genetic and clinical features. Read More