1,230 results match your criteria Autosomal Recessive Polycystic Kidney Disease

Molecular genetics of renal ciliopathies.

Biochem Soc Trans 2021 May 7. Epub 2021 May 7.

Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle Upon Tyne NE1 3BZ, U.K.

Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to progressive chronic kidney disease and end-stage kidney disease. The renal tubules are lined with epithelial cells that possess primary cilia that project into the lumen and act as sensory and signalling organelles. Mutations in genes encoding ciliary proteins involved in the structure and function of primary cilia cause ciliopathy syndromes and affect many organ systems including the kidney. Read More

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A case of 17q12 deletion syndrome that presented antenatally with markedly enlarged kidneys and clinically mimicked autosomal recessive polycystic kidney disease.

CEN Case Rep 2021 May 3. Epub 2021 May 3.

Department of Pediatrics, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.

The gene encoding hepatocyte nuclear factor 1β (HNF1B), a transcription factor involved in the development of the kidney and other organs, is located on chromosome 17q12. Heterozygous deletions of chromosome 17q12, which involve 15 genes including HNF1B, are known as 17q12 deletion syndrome and are a common cause of congenital anomalies of the kidneys and urinary tract (CAKUT) and may also present as a multisystem disorder. Autosomal recessive polycystic kidney disease (ARPKD), on the other hand, is a severe form of polycystic kidney disease caused by mutations in PKHD1 (polycystic kidney and hepatic disease 1). Read More

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Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.

Kidney Int 2021 Apr 30. Epub 2021 Apr 30.

Department of Pediatrics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Cologne, Germany.

Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the large transmembrane protein fibrocystin. The mechanisms underlying the observed clinical heterogeneity in ARPKD remain incompletely understood, partly due to the fact that genotype-phenotype correlations have been limited to the association of biallelic null variants in PKHD1 with the most severe phenotypes. Read More

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Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review.

BMC Pregnancy Childbirth 2021 Apr 12;21(1):294. Epub 2021 Apr 12.

Department of Ultrasound, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

Background: Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare. Early diagnosis and intervention can improve the survival rate to some extent. This study adopted the case of a 26-year-old pregnant woman to explore the clinical and imaging manifestations and progress of CD concomitant with ARPKD to enable a better understanding of the disease. Read More

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Loss of Cilia Does Not Slow Liver Disease Progression in Mouse Models of Autosomal Recessive Polycystic Kidney Disease.

Kidney360 2020 Sep;1(9):962-968

Department of Internal Medicine (Nephrology), Yale School of Medicine, New Haven, Connecticut.

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September 2020

Fibrocystic liver disease: novel concepts and translational perspectives.

Transl Gastroenterol Hepatol 2021 5;6:26. Epub 2021 Apr 5.

Liver Center and Section of Digestive Diseases, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.

Fibrocystic liver diseases (FLDs) comprise a heterogeneous group of rare diseases of the biliary tree, having in common an abnormal development of the embryonic ductal plate caused by genetically-determined dysfunctions of proteins expressed in the primary cilia of cholangiocytes (and therefore grouped among the "ciliopathies"). The ductal dysgenesis may affect the biliary system at multiple levels, from the small intrahepatic bile ducts [congenital hepatic fibrosis (CHF)], to the larger intrahepatic bile ducts [Caroli disease (CD), or Caroli syndrome (CS), when CD coexists with CHF], leading to biliary microhamartomas and segmental bile duct dilations. Biliary changes are accompanied by progressive deposition of abundant peribiliary fibrosis. Read More

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Kidney Transplant and Autosomal Recessive Polycystic Disease: A Case Report and Literature Review of 2 Brothers.

Exp Clin Transplant 2021 Apr 16;19(4):378-381. Epub 2021 Mar 16.

From the Shiraz Nephro-Urology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Autosomal recessive polycystic disease is a rare hepatorenal disorder. End-stage renal disease and liver fibrosis are serious presentations of this disease. Here, we report 2 brothers with autosomal recessive polycystic disease who presented with abnormal abdominal protrusion and hepatosplenomegaly during infancy and eventually underwent renal transplant. Read More

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A case report of Joubert syndrome with renal involvement and seizures in a neonate.

Radiol Case Rep 2021 May 24;16(5):1075-1079. Epub 2021 Feb 24.

Department of Surgery, Mayo Clinic, MN, 32224 USA.

Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of "" on axial magnetic resonance imaging (MRI). Mutations in the implicated genes, affect proteins integral to cellular structures like the primary cilium, basal bodies and centromeres, categorizing Joubert syndrome as a ciliopathy. The most common clinical manifestations include moderate to severe hypotonia in early infancy with ataxia developing later in life, abnormal breathing patterns (tachypnea, apnea), atypical eye movements, development delay and intellectual disabilities. Read More

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Identification of PKHD1 mutations in Brain, Breast and Rectal tumors by Next Generation DNA Sequencing.

Gulf J Oncolog 2021 Jan;1(35):42-53

Departments of Medical Genetics, Umm-Al-Qura University, Makkah, Saudi Arabia.

Introduction: It is well established that the PKHD1 mutations are associated with autosomal recessive polycystic kidney disease (ARPKD). Although, PKHD1 mutations are also detected in certain cancer types, to our knowledge in rare tumors such as, atypical teratoid rhabdoid tumor (ATRT), primary neuro-ectodermal tumor (PNET), atypicalchoroid plexus papilloma (a-CPP), amelanotic ano-rectal melanoma (AMM), and breast phyllodes tumors PKHD1 mutations profiling is not reported.

Methods: In order to determine the PKHD1 gene mutation patterns in the brain, rectal, and breast tumors we have analyzed these tumor DNA by Ion Proton Next generation DNA sequencing. Read More

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January 2021

[A case of Caroli's disease confirmed by pathology, atypical symptoms and images].

Zhonghua Gan Zang Bing Za Zhi 2021 Feb;29(2):172-174

Department of Infectious Diseases, the Third People's Hospital in Shenzhen, Shenzhen 518066, China.

Caroli's disease is a rare congenital disease characterized by non-obstructive dilatation of the intrahepatic bile ducts, with a prevalence of one in a million in the general population[1]. Most of it is considered to be an autosomal recessive genetic disease, but in many cases, the typical genetic family history cannot be traced back. There are two forms of Caroli's disease: simple type (commonly called Caroli disease) and Caroli syndrome (characterized by congenital liver fibrosis and/or polycystic kidney disease). Read More

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February 2021

Early clinical management of autosomal recessive polycystic kidney disease.

Pediatr Nephrol 2021 Feb 17. Epub 2021 Feb 17.

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

Autosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric nephrology. This genetic disease is mainly caused by variants in the PKHD1 gene and is characterized by fibrocystic hepatorenal phenotypes with major clinical variability. ARPKD frequently presents perinatally, and the management of perinatal and early disease symptoms may be challenging. Read More

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February 2021

Polycystic liver disease genes: Practical considerations for genetic testing.

Eur J Med Genet 2021 Mar 6;64(3):104160. Epub 2021 Feb 6.

Department of Gastroenterology and Hepatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

The development of a polycystic liver is a characteristic of the monogenic disorders: autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), and autosomal dominant polycystic liver disease (ADPLD). Respectively two and one genes mainly cause ADPKD and ARPKD. In contrast, ADPLD is caused by at least six different genes which combined do not even explain the disease development in over half of the ADPLD population. Read More

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Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease.

Kidney360 2020 Oct;1(10):1068-1076

Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, Connecticut.

Background: A major difference between autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) lies in the pattern of inheritance, and the resultant timing and focality of cyst formation. In both diseases, cysts form in the kidney and liver as a consequence of the cellular recessive genotype of the respective disease gene, but this occurs by germline inheritance in ARPKD and somatic second hit mutations to the one normal allele in ADPKD. The fibrocystic liver phenotype in ARPKD is attributed to abnormal ductal plate formation because of the absence of expression during embryogenesis and organ development. Read More

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October 2020

Autosomal Recessive Polycystic Kidney Disease-The Clinical Aspects and Diagnostic Challenges.

J Pediatr Genet 2021 Mar 29;10(1):1-8. Epub 2020 Jul 29.

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

Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies with kidney (nephromegaly, hypertension, renal dysfunction) and liver involvement (congenital hepatic fibrosis, dilated bile ducts). Clinical features also include growth failure and neurocognitive impairment. Plurality of clinical aspects requires multidisciplinary approach to treatment and care of patients. Read More

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Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?

Endocrinol Metab Clin North Am 2021 Mar 9;50(1):151-165. Epub 2021 Jan 9.

Division of Metabolism, Endocrinology and Diabetes, University of Michigan, 1150 West Medical Center Drive, MSRB II, 5570B, Ann Arbor, MI 48109, USA. Electronic address:

Congenital adrenal hyperplasia encompasses a group of autosomal recessive defects in cortisol biosynthesis, and 21-hydroxylase deficiency accounts for 95% of such cases. Non-classic 21-hydroxylase deficiency is due to partial enzymatic defects, which present with normal cortisol synthesis, but excessive production of adrenal androgens, including 11-oxygenated androgens. Non-classic 21-hydroxylase deficiency is relatively common, and its phenotype resembles closely that of polycystic ovary syndrome. Read More

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Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease.

Pediatr Nephrol 2021 Jan 21. Epub 2021 Jan 21.

Division of Nephrology, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA, 19104, USA.

Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are characterized by bilateral cystic kidney disease leading to progressive kidney function decline. These diseases also have distinct liver manifestations. The range of clinical presentation and severity of both ADPKD and ARPKD is much wider than was once recognized. Read More

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January 2021

Multiple Cerebral Aneurysms in an Adult With Autosomal Recessive Polycystic Kidney Disease.

Kidney Int Rep 2021 Jan 22;6(1):219-223. Epub 2020 Oct 22.

University of Queensland, Brisbane, Queensland, Australia.

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January 2021

Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.

Am J Kidney Dis 2021 Jan 6. Epub 2021 Jan 6.

Department of Medicine, Nephrology, University Hospital Freiburg, Germany; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.

Renal cystic disease encompasses a large variety of illnesses with various phenotypic expressions that can manifest in utero, in infancy, and in childhood. These diseases may be unilateral or bilateral and present with single or multiple cysts. Various cystic diseases may also progress to chronic kidney disease (CKD), including kidney failure, and hepatic disease, thus potentially being life threatening. Read More

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January 2021

Expanded Carrier Screening and the Complexity of Implementation.

Obstet Gynecol 2021 02;137(2):345-350

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, San Francisco, California.

Advances in genetic technology have allowed for the development of multiplex panels that can test for hundreds of genetic disorders at the same time; these large panels are referred to as expanded carrier screening. This process can screen couples for far more conditions than the gene-by-gene approach used with traditional carrier screening; however, although expanded carrier screening has been promoted as an efficient means of detecting many more disorders, the complexities of genetic sequencing raise substantial challenges and concerns. In our practice, we have seen a number of complex cases in which only attention to detail on the part of thorough genetic counselors allowed identification of misclassified variants that could have resulted in significant patient harm. Read More

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February 2021

Plasticity of distal nephron epithelia from human kidney organoids enables the induction of ureteric tip and stalk.

Cell Stem Cell 2021 Apr 29;28(4):671-684.e6. Epub 2020 Dec 29.

Murdoch Children's Research Institute, Parkville, Melbourne, 3052 VIC, Australia; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, 3052 VIC, Australia; Department of Anatomy and Neuroscience, The University of Melbourne, Melbourne, VIC, Australia. Electronic address:

During development, distinct progenitors contribute to the nephrons versus the ureteric epithelium of the kidney. Indeed, previous human pluripotent stem-cell-derived models of kidney tissue either contain nephrons or pattern specifically to the ureteric epithelium. By re-analyzing the transcriptional distinction between distal nephron and ureteric epithelium in human fetal kidney, we show here that, while existing nephron-containing kidney organoids contain distal nephron epithelium and no ureteric epithelium, this distal nephron segment alone displays significant in vitro plasticity and can adopt a ureteric epithelial tip identity when isolated and cultured in defined conditions. Read More

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[Infantile arterial hypertension: A diagnostic challenge in paediatrics].

An Pediatr (Barc) 2021 Feb 23;94(2):117.e1-117.e8. Epub 2020 Dec 23.

Unidad de Nefrología Pediátrica, Área de Gestión Clínica de Pediatría, Hospital Universitario Central de Asturias, Oviedo, Asturias, España; Departamento de Medicina, Área de Pediatría, Universidad de Oviedo, Oviedo, Asturias, España. Electronic address:

Arterial Hypertension prevalence (HTN) has significantly increased in paediatric patients, mainly in older children and teenagers. In these subjects the most common type is essential or primary HTN. However, in infants HTN prevalence is significantly lower and is almost always due to secondary causes, which can be potentially severe. Read More

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February 2021

Exploring the Spectrum of Kidney Ciliopathies.

Diagnostics (Basel) 2020 Dec 16;10(12). Epub 2020 Dec 16.

Chair of Oncology, Department of Biomedical Sciences and Human Oncology, University of Bari 'A. Moro', 70121 Bari, Italy.

Ciliopathies are a group of multi-organ diseases caused by the disruption of the primary cilium. This event leads to a variety of kidney disorders, including nephronophthisis, renal cystic dysplasia, and renal cell carcinoma (RCC). Primary cilium contributes to the regulation of the cell cycle and protein homeostasis, that is, the balance between protein synthesis and degradation by acting on the ubiquitin-proteasome system, autophagy, and mTOR signaling. Read More

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December 2020

Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys.

Prenat Diagn 2021 Mar 3;41(4):465-477. Epub 2021 Jan 3.

Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, British Columbia, Canada.

Objectives: To determine etiologies and outcomes of fetal hyperechogenic kidneys (HEK).

Methods: We conducted a retrospective chart review of HEK in British Columbia (January 2013-December 2019) and literature review.

Results: We identified 20 cases of HEK without other anomalies (isolated) in our provincial cohort, one was lost to follow-up. Read More

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Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Front Pediatr 2020 12;8:591379. Epub 2020 Nov 12.

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

Liver involvement in autosomal recessive polycystic kidney disease (ARPKD) leads to the development of portal hypertension and its complications. The aim of this study was to analyze the occurrence of the portal hypertension and its clinical course and the dynamics in patients with molecularly confirmed ARPKD in a large Polish center. Moreover, the available options in diagnostics, prevention and management of portal hypertension in ARPKD will be discussed. Read More

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November 2020

Caroli's Syndrome: An Early Presentation.

Cureus 2020 Oct 18;12(10):e11029. Epub 2020 Oct 18.

General Medicine, National Autonomous University of Honduras, Tegucigalpa, HND.

Fibropolycystic liver disorders (FLD) arise from abnormal development of the ductal plate and are classified according to the size of the affected hepatobiliary duct. Congenital hepatic fibrosis (CHF) has small duct involvement characterized by a variable degree of periportal fibrosis and hyperplasia without affecting the liver's architecture. Caroli's disease (CD) is a rare autosomal recessive disorder with a prevalence of one case per 1,000,000 people and is characterized by cystic dilation of large intrahepatic ducts. Read More

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October 2020

Intrahepatic bile ductal ectasia in autosomal recessive polycystic kidney disease evaluated by fetal magnetic resonance imaging: a more frequent complication.

J Matern Fetal Neonatal Med 2020 Nov 18:1-6. Epub 2020 Nov 18.

Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil.

Objective: This study aimed to evaluate liver malformations and intrahepatic bile ductal ectasia and dilatation (IBDED) in cases of prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) using magnetic resonance imaging (MRI).

Methods: This retrospective study involved 209 cases referred for fetal MRI studies (f-MRI) from March 2004 and December 2019, suspicious of congenital renal disease. Fetuses that met the criteria for ARPKD were selected. Read More

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November 2020

Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease.

Pediatr Nephrol 2021 May 9;36(5):1165-1173. Epub 2020 Nov 9.

Department of Gastroenterology-Hepatology-Nutrition, Reference Center for Biliary Atresia and Cholestatic Genetic Diseases, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France.

Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy characterized by congenital hepatic fibrosis and cystic kidney disease. Lack of data about long-term follow-up makes it difficult to discuss timing and type of organ transplantation. Our objectives were to evaluate long-term evolution and indications for transplantation, from birth to adulthood. Read More

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Neonatal Polycystic Kidney Disease in a One-Day-Old Baby: A Case Report.

Pediatric Health Med Ther 2020 29;11:445-448. Epub 2020 Oct 29.

Department of General Surgery, Kilimanjaro Christian Medical Centre, Moshi, Tanzania.

Background: Polycystic kidney disease in neonates is a rare genetic disease which can be either autosomal dominant or autosomal recessive with each presenting at a certain period in life. They can both be diagnosed before or after birth using fetal ultrasound. This is a case of a five-hour-old baby with suspected polycystic kidney disease in a tertiary hospital in northern Tanzania. Read More

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October 2020

Combined liver and kidney transplantation in children and long-term outcome.

World J Transplant 2020 Oct;10(10):283-290

Department of Clinical Nutrition, Lady Ridgeway Hospital for Children, Colombo 0094, Sri Lanka.

Combined liver-kidney transplantation (CLKT) is a rarely performed complex surgical procedure in children and involves transplantation of kidney and either whole or part of liver donated by the same individual (usually a cadaver) to the same recipient during a single surgical procedure. Most common indications for CLKT in children are autosomal recessive polycystic kidney disease and primary hyperoxaluria type 1. Atypical haemolytic uremic syndrome, methylmalonic academia, and conditions where liver and renal failure co-exists may be indications for CLKT. Read More

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October 2020

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

Kidney Int 2021 02 28;99(2):405-409. Epub 2020 Oct 28.

Laboratoire des Maladies rénales héréditaires, Institut Imagine, Inserm U1163, Université de Paris, Paris, France; APHP, Néphrologie pédiatrique, Centre de Référence MARHEA, Hôpital universitaire Necker-Enfants malades, Paris, France. Electronic address:

DNAJB11 (DnaJ Heat Shock Protein Family (Hsp40) Member B11) heterozygous loss of function variations have been reported in autosomal dominant cystic kidney disease with extensive fibrosis, associated with maturation and trafficking defect involving both the autosomal dominant polycystic kidney disease protein polycystin-1 and the autosomal dominant tubulointerstitial kidney disease protein uromodulin. Here we show that biallelic pathogenic variations in DNAJB11 lead to a severe fetal disease including enlarged cystic kidneys, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome. Cysts of the kidney were developed exclusively from uromodulin negative tubular segments. Read More

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February 2021