1,116 results match your criteria Autosomal Recessive Polycystic Kidney Disease


Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Hum Reprod 2019 Mar 30. Epub 2019 Mar 30.

Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.

Study Question: What are the factors influencing the success rate for couples undergoing preimplantation genetic testing (PGT) for polycystic kidney disease (PKD)?

Summary Answer: In our study cohort, the live birth delivery rate is significantly associated with female age while the male infertility accompanying autosomal dominant PKD (ADPKD) does not substantially affect the clinical outcome.

What Is Known Already: While women with ADPKD have no specific fertility problems, male ADPKD patients may present with reproductive system abnormalities and infertility.

Study Design, Size, Duration: This retrospective cohort study involves 91 PGT cycles for PKD for 43 couples (33 couples for PKD1, 2 couples for PKD2 and 8 couples for autosomal recessive PKD (ARPKD)) from January 2005 until December 2016 with follow-up of transfers until end of 2017. Read More

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http://dx.doi.org/10.1093/humrep/dez027DOI Listing
March 2019
1 Read

Ultrasound Elastography to Quantify Liver Disease Severity in Autosomal Recessive Polycystic Kidney Disease.

J Pediatr 2019 Mar 19. Epub 2019 Mar 19.

Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Objectives: To evaluate the diagnostic accuracy of ultrasound elastography with acoustic radiation force impulse (ARFI) to detect congenital hepatic fibrosis and portal hypertension in children with autosomal recessive polycystic kidney disease (ARPKD).

Study Design: Cross-sectional study of 25 children with ARPKD and 24 healthy controls. Ultrasound ARFI elastography (Acuson S3000, Siemens Medical Solutions USA, Inc, Malvern, Pennsylvania) was performed to measure shear wave speed (SWS) in the right and left liver lobes and the spleen. Read More

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http://dx.doi.org/10.1016/j.jpeds.2019.01.055DOI Listing
March 2019
2 Reads

Magnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations.

Abdom Radiol (NY) 2019 Mar 9. Epub 2019 Mar 9.

Radiology Unit, Department of Diagnostic and Therapeutic Services, IRCCS ISMETT (Mediterranean Institute for Transplantation and Advanced Specialized Therapies), Via Tricomi 5, 90127, Palermo, Italy.

Fibropolycystic liver diseases, also known as ductal plate malformations, are a group of associated congenital disorders resulting from abnormal development of the biliary ductal system. These disorders include congenital hepatic fibrosis, biliary hamartomas, polycystic liver disease, choledochal cysts and Caroli disease. Recently, it has been thought to include biliary atresia in this group of diseases, because ductal plate malformations could be implicated in the pathogenesis of this disease. Read More

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http://dx.doi.org/10.1007/s00261-019-01966-9DOI Listing
March 2019
2 Reads

Cardiac Abnormalities in Children with Autosomal Recessive Polycystic Kidney Disease.

Cardiorenal Med 2019 7;9(3):180-189. Epub 2019 Mar 7.

Nephrology and Dialysis Unit, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital - IRCSS, Rome, Italy.

Background: No previous study has defined the prevalence of cardiac geometric and mechanical function abnormalities through the analysis of advanced echocardiographic parameters in children with autosomal recessive polycystic kidney disease (ARPKD).

Aim: The purpose of this study was to evaluate cardiac geometry and function through advanced echocardiography in a well-characterized sample of pediatric patients with ARPKD.

Methods: Standard echocardiograms were obtained in 27 children with ARPKD (0-18 years) and in 88 healthy children of similar age, gender distribution, and body build. Read More

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http://dx.doi.org/10.1159/000496473DOI Listing
March 2019
1 Read

Renal cyst evolution in childhood: a contemporary observational study.

J Pediatr Urol 2019 Feb 1. Epub 2019 Feb 1.

Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada; Division of Urology, Department of Surgery, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Introduction: Children with renal cysts often undergo ultrasound (US) monitoring to identify malignant transformation or polycystic kidney disease (PKD). However, the utility of ongoing surveillance is uncertain.

Objective: The objective of this study was to assess the natural history of simple or minimally complex cysts and the proportion of progression to autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), or malignancy. Read More

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http://dx.doi.org/10.1016/j.jpurol.2019.01.006DOI Listing
February 2019
2 Reads

CONGENITAL HEPATIC FIBROSIS AND OBLITERATIVE PORTAL VENOPATHY WITHOUT PORTAL HYPERTENSION - A REVIEW OF LITERATURE BASED ON AN ASYMPTOMATIC CASE.

Arq Gastroenterol 2018 Oct-Dec;55(4):324-328

Nossa Senhora das Graças Hospital, Unidade de Gastroenterologia, Hepatologia e Transplante de Fígado, Curitiba, PR, Brasil.

The disease and the case reported here are relevant especially because of their varied clinical presentation, possibility of being associated with other disorders affecting several organs and possible differential diagnoses. Congenital Hepatic Fibrosis is an autosomal recessive disease due to mutation in the PKHD1 gene, which encodes the fibrocystin/polyductine protein. It is a cholangiopathy, characterized by varying degrees of periportal fibrosis and irregular proliferation of bile ducts. Read More

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http://dx.doi.org/10.1590/S0004-2803.201800000-91DOI Listing
March 2019
2 Reads

Diffusion tensor imaging of the kidney in healthy controls and in children and young adults with autosomal recessive polycystic kidney disease.

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

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http://dx.doi.org/10.1007/s00261-019-01933-4DOI Listing
February 2019
2 Reads

Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.

Hum Genet 2019 Mar 18;138(3):211-219. 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

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http://dx.doi.org/10.1007/s00439-019-01978-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426152PMC
March 2019
2 Reads
4.824 Impact Factor

Salt-deficient diet exacerbates cystogenesis in ARPKD via epithelial sodium channel (ENaC).

EBioMedicine 2019 Feb 8;40:663-674. Epub 2019 Feb 8.

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

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http://dx.doi.org/10.1016/j.ebiom.2019.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413684PMC
February 2019
4 Reads

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease.

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

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http://dx.doi.org/10.3389/fped.2018.00422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336693PMC
January 2019
2 Reads

Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series.

Pediatr Radiol 2019 Jan 10. Epub 2019 Jan 10.

Service de Radiologie, Hôpital d'Enfants Armand-Trousseau APHP, 26 avenue du Dr Arnold Netter, 75012, Paris, France.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease. This pathology has been increasingly diagnosed in utero and several sonographic patterns are well described in the literature.

Objective: To present a series of fetuses with an unusual imaging pattern of ADPKD, mimicking autosomal recessive polycystic kidney disease (ARPKD). Read More

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http://link.springer.com/10.1007/s00247-018-4325-3
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http://dx.doi.org/10.1007/s00247-018-4325-3DOI Listing
January 2019
21 Reads

A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation.

J Hum Genet 2019 Mar 7;64(3):207-214. Epub 2019 Jan 7.

Reproductive and Genetic Hospital of Citic-Xiangya, Changsha, Hunan, 410078, China.

Autosomal recessive polycystic kidney disease (ARPKD), is a rare hepatorenal fibrocystic disorder primarily associated with progressive growth of multiple cysts in the kidneys causing progressive loss of renal function. The disease is linked to mutations in the PKHD1 gene. In this study, we describe the gene diagnosis and prenatal diagnosis for a consanguineous family with two fetuses diagnosed with polycystic kidney disease by fetal sonography during the pregnancy. Read More

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http://www.nature.com/articles/s10038-018-0550-8
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http://dx.doi.org/10.1038/s10038-018-0550-8DOI Listing
March 2019
13 Reads

Increased water intake reduces long-term renal and cardiovascular disease progression in experimental polycystic kidney disease.

PLoS One 2019 2;14(1):e0209186. Epub 2019 Jan 2.

Centre for Transplant and Renal Research, Westmead Institute for Medical Research, The University of Sydney, Sydney, NSW, Australia.

Polycystic kidney disease (PKD) is the most common inherited cause of kidney failure and currently has limited treatment options. Increasing water intake reduces renal cyst growth in the pck rat (a genetic ortholog of autosomal recessive PKD) but it is not clear if this beneficial effect is present in other models of PKD. In this study, we tested the hypothesis that high water intake (HWI) reduces the progression of cystic renal disease in Lewis polycystic kidney (LPK) rats (a genetic ortholog of human nephronophthisis-9). Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0209186PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314616PMC
January 2019
3 Reads

Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.

Radiology 2019 Mar 1;290(3):769-782. Epub 2019 Jan 1.

From the Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Mathildenstr 1, 79106 Freiburg, Germany (C.G.); Department of Pediatric Radiology, Jeanne de Flandre Mother and Child Hospital, University of Lille, Lille, France (E.F.A.); Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium (L.B.); Department of Pediatrics, University Hospital of Cologne, Cologne, Germany (K.B.); Department of Bioengineering, IRCCS Mario Negri Institute for Pharmacological Research, Bergamo, Italy (A.C.); Department of Pediatrics II, University Hospital Essen, Essen, Germany (M.C.); Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany (D.H., D.F., L.P.); Division of Nephrology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pa (E.A.H.); Department of General Pediatrics, University Children's Hospital, Münster, Germany (J.K., A.T.); Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany (M.C.L.); Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium (D.M.); PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium (D.M.); PKD Research Group, Department of Development and Regeneration, Catholic University Leuven (KU Leuven), Leuven, Belgium (D.M.); Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, England (A.C.M.O.); Department of Nephrology, Fundació Puigvert, Autonomous University of Barcelona, IIB Sant Pau, REDINREN, Barcelona, Spain (R.T.); University College London Great Ormond Street, Institute of Child Health, London, England (P.J.D.W.); and Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany (F.S.).

Kidney cysts can manifest as focal disease (simple and complex kidney cysts), affect a whole kidney (eg, multicystic dysplastic kidney or cystic dysplasia), or manifest as bilateral cystic disease (eg, autosomal recessive polycystic kidney disease [ARPKD] or autosomal dominant polycystic kidney disease [ADPKD]). In children, as opposed to adults, a larger proportion of kidney cysts are due to genetic diseases (eg, HNF1B nephropathy, various ciliopathies, and tuberous sclerosis complex), and fewer patients have simple cysts or acquired cystic kidney disease. The purpose of this consensus statement is to provide clinical guidance on standardization of imaging tests to evaluate kidney cysts in children. Read More

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http://dx.doi.org/10.1148/radiol.2018181243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394734PMC
March 2019
6 Reads
6.867 Impact Factor

Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease.

Iran J Kidney Dis 2018 Nov;12(6):350-358

Department of Medical Genetics, Tarbiat Modares University, Teheran, Iran.

Introduction: A wide variety of mutations are spread throughout the PKHD1 gene, which encodes a 4074-bp amino acid protein, namely fibrocystin/polyductin, and is responsible for all features of autosomal recessive polycystic kidney disease (ARPKD). Autosomal recessive polycystic kidney disease is a hereditary early-onset form of polycystic kidney disease characterized by fusiform dilation of collecting ducts and congenital hepatic fibrosis. The highest level of PKDH1 expression is in the kidneys of fetus and adults, suggesting the functionally importance of the gene in the mature kidney in addition to its role in kidney development. Read More

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November 2018
2 Reads

Medullary sponge kidney and Caroli's disease in a patient with stricture urethra: look for the hidden in presence of the apparent.

BMJ Case Rep 2018 Dec 3;11(1). Epub 2018 Dec 3.

Department of Urology, King George's Medical University, Lucknow, Uttar Pradesh, India.

Caroli's disease is a rare congenital disorder with incidence rate of approximately 1 in 1 000 000 population. Renal anomalies which may be associated with Caroli's disease include medullary sponge kidney (MSK), cortical cysts, adult recessive polycystic kidney disease and rarely autosomal dominant polycystic kidney disease. Exact incidence of MSK in patients of Caroli's disease is not known. Read More

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http://dx.doi.org/10.1136/bcr-2018-226746DOI Listing
December 2018
6 Reads

Truncating PKHD1 and PKD2 mutations alter energy metabolism.

Am J Physiol Renal Physiol 2019 Mar 19;316(3):F414-F425. Epub 2018 Dec 19.

Department of Medicine, University of Alabama at Birmingham , Birmingham, Alabama.

Deficiency in polycystin 1 triggers specific changes in energy metabolism. To determine whether defects in other human cystoproteins have similar effects, we studied extracellular acidification and glucose metabolism in human embryonic kidney (HEK-293) cell lines with polycystic kidney and hepatic disease 1 ( PKHD1) and polycystic kidney disease (PKD) 2 ( PKD2) truncating defects along multiple sites of truncating mutations found in patients with autosomal recessive and dominant PKDs. While neither the PKHD1 or PKD2 gene mutations nor their position enhanced cell proliferation rate in our cell line models, truncating mutations in these genes progressively increased overall extracellular acidification over time ( P < 0. Read More

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http://dx.doi.org/10.1152/ajprenal.00167.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442375PMC
March 2019
5 Reads

[The pathway of vasopressin as a pharmacological target in nephrology: a narrative review].

G Ital Nefrol 2018 Dec;35(6)

U.O.C. Nefrologia, Università cattolica del sacro cuore. Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia.

ADH is a hormone secreted by neurohypophysis that plays different roles based on the target organ. At the renal level, this peptide is capable of causing electrolyte-free water absorption, thus playing a key role in the hydro-electrolytic balance. There are pathologies and disorders that jeopardize this balance and, in this field, ADH receptor inhibitors such as Vaptans could play a key role. Read More

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December 2018
2 Reads

Polycystic kidney disease.

Nat Rev Dis Primers 2018 Dec 6;4(1):50. Epub 2018 Dec 6.

Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.

Cystic kidneys are common causes of end-stage renal disease, both in children and in adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are cilia-related disorders and the two main forms of monogenic cystic kidney diseases. ADPKD is a common disease that mostly presents in adults, whereas ARPKD is a rarer and often more severe form of polycystic kidney disease (PKD) that usually presents perinatally or in early childhood. Read More

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http://dx.doi.org/10.1038/s41572-018-0047-yDOI Listing
December 2018
8 Reads

Prenatal MR imaging features of Caroli syndrome in association with autosomal recessive polycystic kidney disease.

Radiol Case Rep 2019 Feb 26;14(2):265-268. Epub 2018 Nov 26.

Department of Radiology, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 10104, USA.

Caroli syndrome, which is characterized by saccular and fusiform dilatation of the biliary ducts, is usually observed in association with autosomal recessive polycystic kidney disease (ARPKD). Although the diagnosis of ARPKD is generally easy to make in postnatal ultrasound, the diagnosis of Caroli syndrome may be challenging in prenatal ultrasound. Herein, we present a case of a 29-week fetus with ARPKD associated with Caroli syndrome in whom fetal magnetic resonance imaging was essential to identify the "central dot sign" within the dilated biliary ducts to confirm the prenatal diagnosis of Caroli syndrome and to increase our level of confidence in this diagnosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S19300433183046
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http://dx.doi.org/10.1016/j.radcr.2018.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260464PMC
February 2019
12 Reads

Ruptured intracranial aneurysm in a patient with autosomal recessive polycystic kidney disease.

J Neurosurg Pediatr 2018 Oct;23(1):75-79

Departments of1Neurological Surgery and.

Aneurysmal rupture can result in devastating neurological consequences and can be complicated by comorbid disease processes. Patients with autosomal recessive polycystic kidney disease (ARPKD) have a low rate of reported aneurysms, but this may be due to the relative high rate of end-stage illnesses early in childhood. Authors here report the case of a 10-year-old boy with ARPKD who presented with a Hunt and Hess grade V subarachnoid hemorrhage requiring emergency ventriculostomy, embolization, and decompressive craniectomy. Read More

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http://dx.doi.org/10.3171/2018.8.PEDS18286DOI Listing
October 2018
12 Reads

Autosomal recessive polycystic kidney disease (ARPKD) in a Nigerian newborn: a case report.

Pan Afr Med J 2018 25;30:172. Epub 2018 Jun 25.

Department of Paediatrics and Child Health, College of Health Sciences, Ladoke Akintola University of Technology, Osogbo, Nigeria.

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder but even rarer in Africans and it is one of the causes of nephropathies in childhood. Although isolated cases of adult PKD have been reported in Nigerians; to the best of our knowledge, this case is the first to be reported in the paediatric age group in Nigeria. A case of autosomal recessive polycystic kidney disease presenting with severe perinatal asphyxia and severe respiratory distressis here by presented. Read More

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http://dx.doi.org/10.11604/pamj.2018.30.172.15202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235478PMC
December 2018
6 Reads

Characterization of purinergic receptor expression in ARPKD cystic epithelia.

Purinergic Signal 2018 12 11;14(4):485-497. Epub 2018 Nov 11.

Department of Physiology, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA.

Polycystic kidney diseases (PKDs) are a group of inherited nephropathies marked by formation of fluid-filled cysts along the nephron. Growing evidence suggests that in the kidney formation of cysts and alteration of cystic electrolyte transport are associated with purinergic signaling. PCK/CrljCrl-Pkhd1pck/CRL (PCK) rat, an established model of autosomal recessive polycystic kidney disease (ARPKD), was used here to test this hypothesis. Read More

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http://dx.doi.org/10.1007/s11302-018-9632-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298916PMC
December 2018
5 Reads

Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling.

Biochim Biophys Acta Mol Basis Dis 2019 Feb 7;1865(2):378-390. Epub 2018 Nov 7.

School of Biomedical Science and Physiology, Faculty of Science and Engineering, University of Wolverhampton, Wulfruna Street, Wolverhampton WV1 1LY, UK; MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire OX11 0RD, UK; Centre for Nephrology, UCL Medical School, Royal Free Campus, Rowland Hill, London NW3 2PF, UK. Electronic address:

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a genetic disorder with an incidence of ~1:20,000 that manifests in a wide range of renal and liver disease severity in human patients and can lead to perinatal mortality. ARPKD is caused by mutations in PKHD1, which encodes the large membrane protein, Fibrocystin, required for normal branching morphogenesis of the ureteric bud during embryonic renal development. The variation in ARPKD phenotype suggests that in addition to PKHD1 mutations, other genes may play a role, acting as modifiers of disease severity. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09254439183044
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http://dx.doi.org/10.1016/j.bbadis.2018.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335440PMC
February 2019
18 Reads

Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest.

Authors:
Carsten Bergmann

Nephron 2019 25;141(1):50-60. Epub 2018 Oct 25.

Early and severe forms of polycystic kidney disease (PKD) do already manifest during childhood or adolescence. They are characterized by enlarged kidneys and diminished renal function that prenatally may result in Potter's oligohydramnios sequence. Genetically, various defects can mimic this phenotype. Read More

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https://www.karger.com/Article/FullText/493532
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http://dx.doi.org/10.1159/000493532DOI Listing
October 2018
15 Reads

Technical success and outcomes in pediatric patients undergoing transjugular intrahepatic portosystemic shunt placement: a 20-year experience.

Pediatr Radiol 2019 01 6;49(1):128-135. Epub 2018 Oct 6.

Department of Radiology, Division of Vascular and Interventional Radiology, University of Michigan Health System, 1500 E. Medical Center Drive, Ann Arbor, MI, 48109, USA.

Background: Transjugular intrahepatic portosystemic shunt (TIPS) placement has been extensively studied in adults. The experience with TIPS placement in pediatric patients, however, is limited.

Objective: The purpose of this study was to report technical success and clinical outcomes in pediatric patients undergoing TIPS placement. Read More

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http://link.springer.com/10.1007/s00247-018-4267-9
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http://dx.doi.org/10.1007/s00247-018-4267-9DOI Listing
January 2019
8 Reads

An infant with cholestasis, acholic stool and high GGT levels.

Turk J Gastroenterol 2018 09;29(5):621-622

Department of Pediatric Gastroenterology, Hepatology and Nutrition, Ege University School of Medicine, İzmir, Turkey.

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http://dx.doi.org/10.5152/tjg.2018.18105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284619PMC
September 2018
3 Reads

A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs.

PLoS One 2018 20;13(9):e0204073. Epub 2018 Sep 20.

Pathology Research Unit, Finnish Food Safety Authority, Evira, Helsinki, Finland.

Ciliopathies presenting as inherited hepatorenal fibrocystic disorders are rare in humans and in dogs. We describe here a novel lethal ciliopathy in Norwich Terrier puppies that was diagnosed at necropsy and characterized as diffuse cystic renal disease and hepatic fibrosis. The histopathological findings were typical for cystic renal dysplasia in which the cysts were located in the straight portion of the proximal tubule, and thin descending and ascending limbs of Henle's loop. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0204073PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6147468PMC
March 2019
3 Reads

A small molecule fibrokinase inhibitor in a model of fibropolycystic hepatorenal disease.

World J Nephrol 2018 Sep;7(5):96-107

Department of Research and Development, Angion Biomedica Corp., Uniondale, NY 11553, United States.

Aim: To evaluate the novel platelet-derived growth factor receptor and vascular endothelial growth factor receptor dual kinase inhibitor ANG3070 in a polycystic kidney disease-congenital hepatic fibrosis model.

Methods: At 6 wk of age, PCK rats were randomized to vehicle or ANG3070 for 4 wk. At 10 wk, 24 h urine and left kidneys were collected and rats were continued on treatment for 4 wk. Read More

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http://www.wjgnet.com/2220-6124/full/v7/i5/96.htm
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http://dx.doi.org/10.5527/wjn.v7.i5.96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134267PMC
September 2018
11 Reads

A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report.

J Bras Nefrol 2018 Sep 6. Epub 2018 Sep 6.

Departamento de Clínica Médica, Hospital São José, Jaraguá do Sul, SC, Brasil.

A 16-year-old female patient previously diagnosed with autosomal recessive polycystic kidney disease (ARPKD) presented with acute bilateral pneumonia, upper gastrointestinal bleeding caused by ruptured esophageal varices, ascites, and lower limb edema. She required intensive care and an endoscopic procedure to treat the gastrointestinal bleeding. The analysis of the differential diagnosis for chronic liver disease indicated she had a spontaneous splenorenal shunt. Read More

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http://dx.doi.org/10.1590/2175-8239-jbn-2018-0081DOI Listing
September 2018
2 Reads

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.

Stem Cell Res 2018 08 10;31:235-239. Epub 2018 Aug 10.

Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark. Electronic address:

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with a wide range of symptoms including obesity, retinal dystrophy, polycystic kidney disease, polydactyly, hypogonadism and learning difficulties. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) KCi001-A from a BBS patient compound heterozygous for two disease causing BBS1 variants c.1169T>G, p. Read More

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http://dx.doi.org/10.1016/j.scr.2018.08.005DOI Listing
August 2018
3 Reads

Prognosis in cystic kidney disorders.

Authors:
Thomas R Welch

J Pediatr 2018 08;199:2-3

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http://dx.doi.org/10.1016/j.jpeds.2018.06.025DOI Listing
August 2018
1 Read

Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.

J Am Soc Nephrol 2018 Aug 24;29(8):2139-2156. Epub 2018 Jul 24.

Departments of Pathology and Laboratory Medicine,

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a ciliopathy caused by mutations in and that is characterized by renal tubular epithelial cell proliferation and progressive CKD. Although the molecular mechanisms involved in cystogenesis are not established, concurrent inactivating constitutional and somatic mutations in ADPKD genes in cyst epithelium have been proposed as a cellular recessive mechanism.

Methods: We characterized, by whole-exome sequencing (WES) and long-range PCR techniques, the somatic mutations in and genes in renal epithelial cells from 83 kidney cysts obtained from nine patients with ADPKD, for whom a constitutional mutation in or was identified. Read More

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http://dx.doi.org/10.1681/ASN.2017080878DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6065086PMC
August 2018
5 Reads

Blockade of Hedgehog Signaling Attenuates Biliary Cystogenesis in the Polycystic Kidney (PCK) Rat.

Am J Pathol 2018 Oct 20;188(10):2251-2263. Epub 2018 Jul 20.

Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa, Japan.

Caroli disease represents a hepatic manifestation of autosomal recessive polycystic kidney disease, and belongs to a class of cholangiociliopathies. The role of Hedgehog signaling, a major pathway regulated by primary cilia, in biliary cystogenesis in Caroli disease remains unknown. Using the polycystic kidney (PCK) rat as an animal model of Caroli disease, this study investigated the involvement of Hedgehog signaling in its pathogenesis. Read More

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http://dx.doi.org/10.1016/j.ajpath.2018.06.014DOI Listing
October 2018
2 Reads

Autosomal recessive polycystic kidney disease prenatally diagnosed in a fetus with unreported paternal inherited PKHD1 mutation.

Authors:
Alberto López

Eur J Obstet Gynecol Reprod Biol 2018 Sep 25;228:332-333. Epub 2018 Jun 25.

Hospital Lucus Augusti, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejogrb.2018.06.023DOI Listing
September 2018

Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation.

Nephron 2018 10;140(1):74-78. Epub 2018 Jul 10.

Apheresis and Dialysis Center, School of Medicine, Keio University, Tokyo, Japan.

Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal recessive disorders characterized by renal corticomedullary cysts with the extrarenal symptoms. Typically, patients with NPHP-RC reach end-stage kidney disease (ESKD) before the age of 30 years. We herein report a Japanese woman with NPHP-RC who had unusually delayed progression to ESKD after 6 decades. Read More

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http://dx.doi.org/10.1159/000490770DOI Listing
July 2018
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Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.

Pediatr Nephrol 2018 Oct 28;33(10):1713-1721. Epub 2018 Jun 28.

Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Nagyerdei krt. 98., Debrecen, Hungary.

Background: Autosomal recessive polycystic kidney disease (ARPKD) is genetically one of the least heterogeneous ciliopathies, resulting primarily from mutations of PKHD1. Nevertheless, 13-20% of patients diagnosed with ARPKD are found not to carry PKHD1 mutations by sequencing. Here, we assess whether PKHD1 copy number variations or second locus mutations explain these cases. Read More

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http://dx.doi.org/10.1007/s00467-018-3992-5DOI Listing
October 2018
8 Reads

Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice.

Front Pediatr 2018 4;6:164. Epub 2018 Jun 4.

Department of Pediatrics, University Hospital of Cologne, Cologne, Germany.

Autosomal recessive polycystic kidney disease (ARPKD) is a severe hepatorenal disorder of childhood. Early renal disease in ARPKD may require renal replacement therapy and is associated with failure to thrive resulting in a need for nasogastric tube feeding or gastrostomy. In ARPKD patients, the benefit of a gastrostomy in nutrition and growth needs to be weighed against the potential risk of complications of congenital hepatic fibrosis (CHF) and portal hypertension like variceal bleeding. Read More

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http://dx.doi.org/10.3389/fped.2018.00164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994991PMC
June 2018
7 Reads

Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease.

Ann Clin Biochem 2019 Jan 2;56(1):90-94. Epub 2018 Jul 2.

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

Background: Hypomagnesaemia is present in 40-50% of children with autosomal dominant renal cysts and diabetes syndrome (RCAD). On the contrary, the prevalence of hypomagnesaemia in children with autosomal dominant polycystic kidney disease (ADPKD) has never been examined. We aimed to investigate whether hypomagnesaemia is present in children with polycystic kidney diseases. Read More

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http://dx.doi.org/10.1177/0004563218785190DOI Listing
January 2019
12 Reads

Inhibition of Mast Cell Degranulation With Cromolyn Sodium Exhibits Organ-Specific Effects in Polycystic Kidney (PCK) Rats.

Int J Toxicol 2018 Jul/Aug;37(4):308-326. Epub 2018 Jun 3.

1 Department of Pharmacology, Toxicology and Therapeutics, University of Kansas Medical Center, Kansas City, KS, USA.

Autosomal recessive polycystic kidney disease (ARPKD) is a monogenic disease characterized by development of hepatorenal cysts, pericystic fibrosis, and inflammation. Previous studies show that mast cell (MC) mediators such as histamine induce proliferation of cholangiocytes. We observed robust MC accumulation around liver cysts, but not kidney cysts, in polycystic kidney (PCK) rats (an animal model of ARPKD). Read More

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http://dx.doi.org/10.1177/1091581818777754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6027616PMC
March 2019
15 Reads

[Identification of a new mutation of the NPHP1 gene].

G Ital Nefrol 2018 May;35(3)

Centro di Ricerca "Rene e Trapianto" UOC Nefrologia e Dialisi abilitata al Trapianto, AO Cosenza, Italia.

Kidney cystic diseases are inherited disorders causing chronic renal failure. According to the genetic defect they are classified as diseases of the primary ciliary complex and uromodulin-associated diseases. Mutations in genes coding for ciliary proteins are the basis of a broad category of genetic diseases, called ciliopathies. Read More

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May 2018
4 Reads

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.

J Pediatr 2018 08 9;199:22-28.e6. Epub 2018 May 9.

Department of Pediatrics, University Hospital of Cologne, Cologne, Germany; Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany.

Objective: To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for parental counseling after prenatal and perinatal diagnosis.

Study Design: A dataset comprising 385 patients from the ARegPKD international registry study was analyzed for potential risk markers for dialysis during the first year of life.

Results: Thirty-six out of 385 children (9. Read More

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http://dx.doi.org/10.1016/j.jpeds.2018.03.052DOI Listing
August 2018
18 Reads
3.790 Impact Factor

[PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): Genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling].

Nephrol Ther 2018 Nov 25;14(6):474-477. Epub 2018 Apr 25.

UM pathologies endocriniennes, rénales, musculaires et mucoviscidose, CBPE, groupement hospitalier Est, 59, boulevard Pinel, 69677 Bron cedex, France.

Objectives: ARPKD is a recessive rare disease due to PKHD1 mutation. The main objective of the study was to characterize the phenotypic variability according to the different types of PKHD1 mutations.

Methods: This study was performed in 308 ARPKD patients with a genetic diagnosis from our genetic center. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697255183011
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http://dx.doi.org/10.1016/j.nephro.2018.03.002DOI Listing
November 2018
7 Reads

Vascular Endothelial Growth Factor (VEGF) Gene Promoter Polymorphisms and Disease Progression in North Indian Cohort with Autosomal Dominant Polycystic Kidney Disease.

Int J Mol Cell Med 2017 26;6(3):164-173. Epub 2017 Sep 26.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by a significant phenotypic variability in progression of the disease. Vascular endothelial growth factor () has been reported to play a major role in renal pathophysiology. The aim of the present case-control study was to evaluate the association of two promoter polymorphisms (-2578C>A and-1154G>A) of gene and ADPKD. Read More

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http://dx.doi.org/10.22088/acadpub.BUMS.6.3.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5898640PMC
September 2017
4 Reads

[Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review].

Beijing Da Xue Xue Bao Yi Xue Ban 2018 Apr;50(2):335-339

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.

This case report is about one genetically specified diagnosed infant case of Caroli syndrome with autosomal recessive polycystic kidney disease (ARPKD) in China. The patient in this case report was an eight-month infant boy with an atypical onset and the main clinical manifestation was non-symptomatic enlargement of the liver and kidneys. The imaging study demonstrated a diffused cystic dilatation of intrahepatic bile ducts as well as polycystic changes in bilateral kidneys. Read More

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April 2018
27 Reads

Cystic Kidney Diseases From the Adult Nephrologist's Point of View.

Front Pediatr 2018 22;6:65. Epub 2018 Mar 22.

Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.

Cystic kidney diseases affect patients of all age groups with the onset spanning from prenatal disease to late adulthood. Autosomal-dominant polycystic kidney disease (ADPKD) is by far the most common renal cystic disease. However, there are various cystic kidney diseases, the onset of which occurs at different times in life and depends on the type of the disease and the causative genes involved. Read More

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http://dx.doi.org/10.3389/fped.2018.00065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5875104PMC
March 2018
1 Read