1,294 results match your criteria Autosomal Recessive Polycystic Kidney Disease


Implementation of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal structural anomalies: prospective cohort study.

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

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Recessive Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation.

Front Mol Neurosci 2022 10;15:861159. Epub 2022 May 10.

Department of Neurology, Institute of Neuroscience, The Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Objective: The encodes polycystin-1, a large transmembrane protein that plays important roles in cell proliferation, apoptosis, and cation transport. Previous studies have identified mutations in autosomal dominant polycystic kidney disease (ADPKD). However, the expression of in the brain is much higher than that in the kidney. Read More

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Patient Selection for Renal Denervation in Hypertensive Patients: What Makes a Good Candidate?

Vasc Health Risk Manag 2022 13;18:375-386. Epub 2022 May 13.

Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia.

Renal denervation (RDN) as a therapeutic intervention in patients with hypertension has been intensively studied for over a decade, yet a critical question remains unanswered: what kind of patients are the ideal target population for RDN to achieve its maximum clinical benefit? We herein provide a review of current literature to answer questions related to patient selection to identify populations that will benefit most from RDN, drawing first from human studies but also important clues derived from preclinical animal models. Different aspects that may influence the selection of patients such as the cause of hypertension, the severity of hypertension, concurrent pharmaceutical treatment, renal function, and renal artery anatomy are discussed. Based on current evidence, patients who have severe primary hypertension, regardless of medication or degree of renal dysfunction, who have an accessible accessory renal artery, can achieve a desirable response if a thorough ablation is achieved. Read More

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Genetics, pathobiology and therapeutic opportunities of polycystic liver disease.

Nat Rev Gastroenterol Hepatol 2022 May 13. Epub 2022 May 13.

Department of Liver and Gastrointestinal Diseases, Biodonostia Health Research Institute-Donostia University Hospital, University of the Basque Country (UPV/EHU), San Sebastian, Spain.

Polycystic liver diseases (PLDs) are inherited genetic disorders characterized by progressive development of intrahepatic, fluid-filled biliary cysts (more than ten), which constitute the main cause of morbidity and markedly affect the quality of life. Liver cysts arise in patients with autosomal dominant PLD (ADPLD) or in co-occurrence with renal cysts in patients with autosomal dominant or autosomal recessive polycystic kidney disease (ADPKD and ARPKD, respectively). Hepatic cystogenesis is a heterogeneous process, with several risk factors increasing the odds of developing larger cysts. Read More

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[Nephronophthisis: a pediatric case report].

Arch Argent Pediatr 2022 06;120(3):e142-e146

Servicio de Nefrología Pediátrica, Hospital de Niños Dr. Ricardo Gutiérrez, Ciudad Autónoma de Buenos Aires, Argentina.

Nephronophthisis is an autosomal recessive cystic kidney disease caused by mutations in genes that encode proteins involved in the primary cilia function, resulting in kidney disease and extrarenal manifestations such as retinal degeneration and liver fibrosis. According to the age of development of end-stage chronic kidney disease, three clinical forms of presentation are described: infantile, juvenile and adolescent. Diagnosis is made by a positive genetic test, or a kidney biopsy demonstrating chronic tubulointerstitial changes with thickening of the tubular basement membranes. Read More

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Agonists of prostaglandin E receptors as potential first in class treatment for nephronophthisis and related ciliopathies.

Proc Natl Acad Sci U S A 2022 05 28;119(18):e2115960119. Epub 2022 Apr 28.

Laboratory of Hereditary Kidney Disease, Imagine Institute, Université Paris Cité, INSERM UMR 1163, 75015 Paris, France.

Nephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging to the ciliopathy disorders and known as the most common cause of hereditary end-stage renal disease in children. Yet, no curative treatment is available. The major gene, NPHP1, encodes a protein playing key functions at the primary cilium and cellular junctions. Read More

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Contributions of afferent and sympathetic renal nerves to cystogenesis and arterial pressure regulation in a preclinical model of autosomal recessive polycystic kidney disease.

Am J Physiol Renal Physiol 2022 06 25;322(6):F680-F691. Epub 2022 Apr 25.

Department of Physiology, University of Arizona Health Sciences Center, Tucson, Arizona.

Polycystic kidney disease (PKD) is the most common inheritable cause of kidney failure, and the underlying mechanisms remain incompletely uncovered. Renal nerves contribute to hypertension and chronic kidney disease-frequent complications of PKD. There is limited evidence that renal nerves may contribute to cardiorenal dysfunction in PKD and no investigations of the role of sympathetic versus afferent nerves in PKD. Read More

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Generation of induced pluripotent stem cells from peripheral blood mononuclear cells obtained from an adult with autosomal recessive polycystic kidney disease.

Stem Cell Res 2022 05 4;61:102772. Epub 2022 Apr 4.

Department of Nephrology, First Medical Center of Chinese PLA General Hospital, Nephrology Institute of the Chinese People's Liberation Army, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing Key Laboratory of Kidney Disease Research, Beijing 100853, China. Electronic address:

Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and biliary tract. Its major histological presentations are the fusiform dilatation of renal collecting ducts and the malformation of the hepatobiliary ductal plate. We isolated peripheral blood mononuclear cells from a 21-year-old adult female patient carrying a homozygous p. Read More

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Case report: Neonatal diabetes mellitus with congenital hypothyroidism as a result of biallelic heterozygous mutations in GLIS3 gene.

Pediatr Diabetes 2022 Apr 8. Epub 2022 Apr 8.

Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.

Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome (MIM# 610199) is a rare disease caused by autosomal recessive mutations in the GLIS3 gene. GLIS3 is an important transcription factor that might acts as both a repressor and activator of transcription. To date, 22 cases of NDH syndrome from 16 families and 11 countries have been described. Read More

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Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing.

Mol Genet Genomic Med 2022 05 30;10(5):e1935. Epub 2022 Mar 30.

Center for Reproductive Medicine, Department of Obstetrics, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, China.

Background: Meckel syndrome (MKS) is a fatal disease characterized by multisystem fibrosis during the prenatal or perinatal period. It has an autosomal recessive genetic pattern and is characterized by meningo occipital encephalocele, polycystic kidney dysplasia, polydactyly, and hepatobiliary ductal plate malformation. Germline variations in CEP290 have been shown to cause MKS4. Read More

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Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes.

Genes (Basel) 2022 02 23;13(3). Epub 2022 Feb 23.

Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma, 28046 Madrid, Spain.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenetic hereditary renal disease, promoting end-stage renal disease (ESRD). Klinefelter syndrome (KS) is a consequence of an extra copy of the X chromosome in males. Main symptoms in KS include hypogonadism, tall stature, azoospermia, and a risk of cardiovascular diseases, among others. Read More

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February 2022

Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases.

Orphanet J Rare Dis 2022 03 9;17(1):122. Epub 2022 Mar 9.

Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.

Background: In pediatric hereditary cystic kidney diseases, epithelial cell defects mostly result from rare, autosomal recessively inherited pathogenic variants in genes encoding proteins of the cilia-centrosome complex. Consequences of individual gene variants on epithelial function are often difficult to predict and can furthermore depend on the patient's genetic background. Here, we studied urine-derived renal tubular epithelial cells (URECs) from genetically determined, pediatric cohorts of different hereditary cystic kidney diseases, comprising autosomal recessive polycystic kidney disease, nephronophthisis (NPH) and the Bardet Biedl syndrome (BBS). Read More

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Protein Kinase A Downregulation Delays the Development and Progression of Polycystic Kidney Disease.

J Am Soc Nephrol 2022 06 2;33(6):1087-1104. Epub 2022 Mar 2.

Division of Nephrology and Hypertension and Robert M. and Billie Kelley Pirnie Translational PKD Center, Mayo Clinic, Rochester, Minnesota

Background: Upregulation of cAMP-dependent and cAMP-independent PKA signaling is thought to promote cystogenesis in polycystic kidney disease (PKD). PKA-I regulatory subunit RI is increased in kidneys of orthologous mouse models. Kidney-specific knockout of RI upregulates PKA activity, induces cystic disease in wild-type mice, and aggravates it in mice. Read More

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Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.

Pediatr Nephrol 2022 Feb 24. Epub 2022 Feb 24.

Department of Clinical Genetics, Odense University Hospital, J. B. Winsløws Vej 4, 5000, Odense C, Denmark.

Background: Autosomal recessive polycystic kidney disease is a cystic kidney disease with early onset and clinically characterized by enlarged echogenic kidneys, hypertension, varying degrees of kidney dysfunction, and liver fibrosis. It is most frequently caused by sequence variants in the PKHD1 gene, encoding fibrocystin. In more rare cases, sequence variants in DZIP1L are seen, encoding the basal body protein DAZ interacting protein 1-like protein (DZIP1L). Read More

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February 2022

The Persistent Approach to Diagnose Infectious Hepatic Cysts in a Patient With Recurrent Fever: A Case Report.

Cureus 2022 Jan 11;14(1):e21137. Epub 2022 Jan 11.

Community Medicine Management, Shimane University Faculty of Medicine, Izumo, JPN.

Diagnosing infectious hepatic cysts (IHCs) can be challenging. Moreover, patients with IHCs may present with various symptoms. Diagnosis of IHCs can be even more difficult in patients with multiple liver cysts. Read More

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January 2022

Brucella Peritonitis in a Patient on Peritoneal Dialysis: A Case Report and Review of Literature.

Cureus 2021 Dec 25;13(12):e20679. Epub 2021 Dec 25.

Pediatric Infectious Diseases, Dubai Hospital, Dubai Health Authority, Dubai, ARE.

Peritoneal dialysis (PD)-associated peritonitis is the most common cause of morbidity, mortality, and treatment failure in patients on PD. Brucellosis is a worldwide zoonotic infectious disease caused by gram-negative bacteria of the genus . It is a major public issue in some regions. Read More

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December 2021

Ambulatory blood pressure and hypertension control in children with autosomal recessive polycystic kidney disease: clinical experience from two central European tertiary centres.

J Hypertens 2022 03;40(3):425-431

Department of Paediatrics, Friedrich-Schiller-University Jena, Jena, Germany.

Objective: : Arterial hypertension is a common complication in patients with autosomal recessive polycystic kidney disease (ARPKD), occurring in 33-75% of children when measured by office blood pressure (OBP). Ambulatory blood pressure monitoring (ABPM) is a superior tool for investigating blood pressure relative to OBP. The aim of our study was to investigate the prevalence and control of hypertension in children with ARPKD based on ABPM. Read More

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[Analysis of HNF1B gene variant in a fetus featuring infantile polycystic kidney disease].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 Feb;39(2):205-208

Center of Prenatal Diagnosis, The Affiliated Hospital of Putian College, Putian, Fujian 351100, China.

Objective: To explore the genetic basis for a fetus featuring infantile polycystic kidney disease (IPKD).

Methods: Following elective abortion, fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out to detect potential variants correlated with the phenotype. Read More

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February 2022

The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Biochim Biophys Acta Mol Basis Dis 2022 04 12;1868(4):166348. Epub 2022 Jan 12.

Faculty of Science and Engineering, University of Wolverhampton, Wulfruna Street, Wolverhampton WV1 1LY, UK.

ARPKD is a genetically inherited kidney disease that manifests by bilateral enlargement of cystic kidneys and liver fibrosis. It shows a range of severity, with 30% of individuals dying early on and the majority having good prognosis if they survive the first year of life. The reasons for this variability remain unclear. Read More

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Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Hum Mutat 2022 03 10;43(3):347-361. Epub 2022 Jan 10.

Inserm U1163, Laboratoire des Maladies Rénales Héréditaires Institut Imagine, Université de Paris, Paris, France.

We report the screening of a large panel of genes in a series of 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified in 22% of cases, greatly improving genetic counseling. The percentage of variants explaining the phenotype was different according to the type of phenotype. Read More

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Mosaic in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes.

Front Med (Lausanne) 2021 16;8:743150. Epub 2021 Dec 16.

Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, China.

Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease caused mainly by the polycystic kidney and hepatic disease 1 (. However, the genetic cause, pathologic features, and mechanism of action of ARPKD are not well known. Here, we identified a family with ARPKD. Read More

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December 2021

Identification of Two Novel Mutations in Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing.

Curr Genomics 2021 Oct;22(3):232-236

Department of Medical Genetics, Tehran University of Medical Sciences (TUMS), Tehran, Iran.

Background: Polycystic kidney disease (PKD) is an autosomal recessive disorder resulting from mutations in the gene on chromosome 6 (6p12), a large gene spanning 470 kb of genomic DNA.

Objective: The aim of the present study was to report newly identified mutations in the gene in two Iranian families with PKD.

Materials And Methods: Genetic alterations of a 3-month-old boy and a 27-year-old girl with PKD were evaluated using whole-exome sequencing. Read More

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October 2021

Translational research approaches to study pediatric polycystic kidney disease.

Mol Cell Pediatr 2021 Dec 9;8(1):20. Epub 2021 Dec 9.

Department of Pediatric Nephrology and Organ Transplantation, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.

Polycystic kidney diseases (PKD) are severe forms of genetic kidney disorders. The two main types of PKD are autosomal recessive and autosomal dominant PKD (ARPKD, ADPKD). While ARPKD typically is a disorder of early childhood, patients with ADPKD often remain pauci-symptomatic until adulthood even though formation of cysts in the kidney already begins in children. Read More

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December 2021

Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.

Genes (Basel) 2021 11 5;12(11). Epub 2021 Nov 5.

Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW 2109, Australia.

The exponential rise in our understanding of the aetiology and pathophysiology of genetic cystic kidney diseases can be attributed to the identification of cystogenic genes over the last three decades. The foundation of this was laid by positional cloning strategies which gradually shifted towards next-generation sequencing (NGS) based screenings. This shift has enabled the discovery of novel cystogenic genes at an accelerated pace unlike ever before and, most notably, the past decade has seen the largest increase in identification of the genes which cause nephronophthisis (NPHP). Read More

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November 2021

Recent advances in understanding ion transport mechanisms in polycystic kidney disease.

Clin Sci (Lond) 2021 11;135(21):2521-2540

Department of Physiology, Augusta University, Augusta, GA, U.S.A.

This review focuses on the most recent advances in the understanding of the electrolyte transport-related mechanisms important for the development of severe inherited renal disorders, autosomal dominant (AD) and recessive (AR) forms of polycystic kidney disease (PKD). We provide here a basic overview of the origins and clinical aspects of ARPKD and ADPKD and discuss the implications of electrolyte transport in cystogenesis. Special attention is devoted to intracellular calcium handling by the cystic cells, with a focus on polycystins and fibrocystin, as well as other calcium level regulators, such as transient receptor potential vanilloid type 4 (TRPV4) channels, ciliary machinery, and purinergic receptor remodeling. Read More

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November 2021

Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD.

Sci Rep 2021 11 4;11(1):21677. Epub 2021 Nov 4.

Department of Pediatrics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Kerpener Str. 62, 50937, Cologne, Germany.

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are urgently needed as a base for clinical decision-making and future clinical trials. In this observational study we analyzed the longitudinal development of sonographic kidney measurements in a cohort of 456 ARPKD patients from the international registry study ARegPKD. Read More

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November 2021

Polycystic Liver Disease: Advances in Understanding and Treatment.

Annu Rev Pathol 2022 01 1;17:251-269. Epub 2021 Nov 1.

Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota 55905, USA; email:

Polycystic liver disease (PLD) is a group of genetic disorders characterized by progressive development of cholangiocyte-derived fluid-filled hepatic cysts. PLD is the most common manifestation of autosomal dominant and autosomal recessive polycystic kidney diseases and rarely occurs as autosomal dominant PLD. The mechanisms of PLD are a sequence of the primary (mutations in PLD-causative genes), secondary (initiation of cyst formation), and tertiary (progression of hepatic cystogenesis) interconnected molecular and cellular events in cholangiocytes. Read More

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January 2022

Detection of and Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.

J Am Soc Nephrol 2021 Oct 29. Epub 2021 Oct 29.

Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, New York

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development of multiple cysts in the kidneys. It is often caused by pathogenic mutations in and genes that encode polycystin proteins. Although the molecular mechanisms for cystogenesis are not established, concurrent inactivating germline and somatic mutations in and have been previously observed in renal tubular epithelium (RTE). Read More

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October 2021

Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene.

Stem Cell Res 2021 Oct 18;57:102579. Epub 2021 Oct 18.

Center for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany. Electronic address:

Mutations in the PKHD1 gene, encoding for the ciliary protein fibrocystin, play a major role in the cystogenesis in autosomal recessive polycystic kidney disease (ARPKD), a severe pediatric kidney disorder. Peripheral blood mononuclear cells (PBMCs) from a female patient carrying a compound heterozygous PKHD1 mutation (c.6331A>G(;)7717C>T) were obtained and reprogrammed by viral transduction using the Cytotune®-iPS 2. Read More

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October 2021