Advances in pediatric kidney diffusion tensor imaging: diagnostic and functional applications.

Caroli disease associated with autosomal recessive polycystic kidney disease: CT imaging features of a case report.

Studies of mice with a large deletion of the ARPKD-associated Pkhd1 locus likely explain its GWAS association with glaucoma in humans.

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.

Deciphering the Impact of RAC1-SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models.

Novel compound heterozygous PKHD1 mutations in a Chinese ARPKD pedigree and analysis of genotype-phenotype correlations.

Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease.

Investigation of Urinary Extracellular Vesicles as Novel and Safe Therapeutics for Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Identification of Pathogenic PKHD1 Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman.

Fibrocystin/polyductin (FPC): new functional insights into ARPKD pathogenesis revealed by informatics, comparative genomics, and model systems.

Congenital Hepatic Fibrosis and/or Autosomal Recessive Polycystic Kidney Disease: A Single-center Experience.

Prenatal Diagnosis and Postnatal Outcomes of Fetal ADPKD: A Single-Center Retrospective Cohort Study.

Clinical characteristics and genotype-phenotype correlation for patients with autosomal recessive polycystic kidney disease and PKHD1 mutations.

Predictors of kidney survival in children with autosomal recessive polycystic kidney disease.

Open resection of gastroduodenal artery aneurysm with fistulization into the duodenum 17 years after coil embolization in a patient with Caroli disease.

Atypical Liver Ultrasound Image in a Boy with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and New PKD1 Variant-A Case Report.

Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease.

Prolonged hypotension in children with bilateral kidney absence: a case series and pathophysiologic insights.

Qualitative Analysis and Comparison of Externally Led Patient-Focused Drug Development Concepts for Autosomal Recessive Polycystic Kidney Disease Against SONG Initiatives.

A Novel Founder PKHD1 Disease Causing Variant in Israeli Bedouins With Autosomal Recessive Polycystic Kidney Disease.

Prenatal diagnosis and molecular characterization of PKHD1 variants in two Chinese fetuses with Caroli disease/syndrome.

Determinants of left ventricular mass in children with autosomal recessive polycystic kidney disease.

Identification of PDIA6 Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature.

Health-related quality of life, mental health and caregiver burden in children with autosomal recessive polycystic kidney disease.

Long-Term Peritoneal Dialysis Using a Tenckhoff Catheter in a Premature Infant With Homozygous Autosomal Recessive Polycystic Kidney Disease: A Case Report.

Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry.

A novel gene therapy for ARPKD based on CFTR.

Peritoneal Dialysis Catheters: Review of Neonatal Patient Outcomes.

Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data.

Kidney organoids demonstrate that PTH1R drives a cystogenic cAMP-pPKA-pCREB axis in developmental polycystic kidney disease.

Cardiac connections: Effects on the heart as a result of autosomal recessive polycystic kidney disease.

Cholangitis resembling Caroli's syndrome in a patient with autosomal dominant polycystic kidney disease: Case report.

A Rare Diagnosis of Caroli Syndrome in a Young Patient.

Urinary peptide signature distinguishes autosomal recessive polycystic kidney disease from other causes of chronic kidney disease.

Pilot study using a discrete mathematical approach for topological analysis and ssGSEA of gene expression in autosomal recessive polycystic kidney disease.

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

Progress, challenges, and pragmatic concessions in predicting relative risk of kidney survival in ARPKD.

The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease.

Heart dysfunction in a rat model with autosomal recessive polycystic kidney disease.

Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child.

The Role of Angiotensin-II Infusion in an Infant With Autosomal Recessive Polycystic Kidney Disease Postbilateral Nephrectomies and Refractory Hypotension in the Neonatal Period.

Polycystic Kidney Disease in Children: The Current Status and the Next Horizon.

Therapeutic opportunities in polycystic kidney and liver disease through extracellular matrix dynamics.

Electrolyte and metabolite composition of cystic fluid from a rat model of ARPKD.

A risk score to predict kidney survival in patients with autosomal recessive polycystic kidney disease at the age of two months.

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.

An extracellular vesicle based hypothesis for the genesis of the polycystic kidney diseases.

Hepatopulmonary syndrome from liver disease associated with autosomal recessive polycystic kidney disease.

Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease.

Urinary Dickkopf-3 Reflects Disease Severity and Predicts Short-Term Kidney Function Decline in Renal Ciliopathies.

Gene therapy in polycystic kidney disease: A promising future.

Multimodal Magnetic Resonance Imaging Assessments of Kidney Disease Severity in Autosomal Recessive Polycystic Kidney Disease.

Prostatic cyst in autosomal recessive polycystic kidney disease: A case presentation and literature review.

Short Bowel Syndrome Is Not a Contraindication for Kidney Transplantation.

Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene.

Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.

Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.

Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1.

A rare cause of echogenic kidneys with oligohydramnios in the fetus: report of two different cases.

An infant case of autosomal recessive polycystic kidney disease-associated dilated cardiomyopathy-like hypertensive cardiomyopathy diagnosed because of urinary tract infection.

[Autosomal recessive polycystic kidney disease in a girl].

Primary Cilia Elongation in Early-Onset Polycystic Kidney Disease with 2 Hypomorphic PKD1 Alleles: A Case Report.

Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family.

Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait.

Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1.

A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?

Next generation sequencing identifies WNT signalling as a significant pathway in Autosomal Recessive Polycystic Kidney Disease (ARPKD) manifestation and may be linked to disease severity.

Variable Clinical Presentations and Renal Outcome in Neonates With Autosomal Recessive Polycystic Kidney Disease.

Proteogenomics in Nephrology: A New Frontier in Nephrological Research.

Protocol for the nationwide registry of patients with polycystic kidney disease: japanese national registry of PKD (JRP).

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review.

Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease.

The ARPKD Protein DZIP1L Regulates Ciliary Protein Entry by Modulating the Architecture and Function of Ciliary Transition Fibers.

Defects of renal tubular homeostasis and cystogenesis in the Pkhd1 knockout.

Caroli's Disease Associated with Autosomal Dominant Polycystic Kidney Disease with Acute Pancreatitis: A Case Report.

Survival of Infants With Severe Congenital Kidney Disease After ECMO and Kidney Support Therapy.

Short-Term Outcome of Isolated Kidney Transplantation in Children with Autosomal Recessive Polycystic Kidney Disease: A Case Series and Literature Review.

Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa.

The Pathophysiology of Inherited Renal Cystic Diseases.

A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.

Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease.

Caroli disease with subcutaneous hemorrhage as the sole clinical manifestation: A case report.

Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management.

Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.

Combined liver-kidney transplantation in pediatric patients.

Assessing the potential of DZIP1L gene in autosomal recessive polycystic kidney disease gene therapy.

The genetic spectrum of polycystic kidney disease in children.

The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD).

Complications and prognosis of patients diagnosed with autosomal recessive polycystic kidney disease in neonatal period.

Fibrocystin/Polyductin releases a C-terminal fragment that translocates into mitochondria and suppresses cystogenesis.

Case report: Severe hypertension-induced priapism in an infant with unrecognized autosomal recessive polycystic kidney disease.

Metformin does not slow cyst growth in the PCK rat model of polycystic kidney disease.

[Research progress on the pathogenesis autosomal recessive polycystic kidney disease].

Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease.

Vascular Dysfunction in Polycystic Kidney Disease: A Mini-Review.

A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease.

Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies.

Cystin is required for maintaining fibrocystin (FPC) levels and safeguarding proteome integrity in mouse renal epithelial cells: A mechanistic connection between the kidney defects in cpk mice and human ARPKD.

Renal ciliopathies: promising drug targets and prospects for clinical trials.

Cystic Diseases of the Kidneys: From Bench to Bedside.

Shift from severe hypotension to salt-dependent hypertension in a child with autosomal recessive polycystic kidney disease after bilateral nephrectomies: a case report.

Autosomal dominant and autosomal recessive polycystic kidney disease: hypertension and secondary cardiovascular effect in children.

AN 84-YEAR-OLD PATIENT WITH CAROLI SYNDROME: WHAT IS THE PROGNOSIS OF THIS CONDITION?

TRPV4 functional status in cystic cells regulates cystogenesis in autosomal recessive polycystic kidney disease during variations in dietary potassium.

Genetic autopsy and genetic counseling for a case of fatal oligohydramnios due to de novo 17q12 deletion syndrome.

Ameliorating liver disease in an autosomal recessive polycystic kidney disease mouse model.

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios.

A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease.

Accuracy and processing time of kidney volume measurement methods in rodents polycystic kidney disease models: superiority of semiautomated kidney segmentation.

Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease.

Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.

Whole-Exome Sequencing Revealed the Mutational Profiles of Primary Central Nervous System Lymphoma.

Global Transcriptomics of Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease using PCK rats.

Transcription factor Ap2b regulates the mouse autosomal recessive polycystic kidney disease genes, Pkhd1 and Cys1.

Polycystic Kidney Disease Drug Development: A Conference Report.

Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report.

Review of the Use of Animal Models of Human Polycystic Kidney Disease for the Evaluation of Experimental Therapeutic Modalities.

The Clinical and Mutational Spectrum of 69 Turkish Children with Autosomal Recessive or Autosomal Dominant Polycystic Kidney Disease: A Multicenter Retrospective Cohort Study.

Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature.

Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension.

INDIAMAN-20 (INstant DIAgnosis of 20 Major ANomalies) protocol: application of IOTA diagnostic strategy to fetal anomalies.

Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.

Hyperinsulinemic Hypoglycemia Due to PMM2 Mutation in Two Siblings with Autosomal Recessive Polycystic Kidney Disease.

Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Modulation of P2X4 receptor activity by ivermectin and 5-BDBD has no effect on the development of ARPKD in PCK rats.

Two cases of fetal hyperechogenic kidneys who had HNF1-β gene variation.

Temporal Profile of Kynurenine Pathway Metabolites in a Rodent Model of Autosomal Recessive Polycystic Kidney Disease.

Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm.

[Clinical characteristics and genetic analysis of a child with autosomal recessive polycystic kidney disease].

Organoid-on-a-chip model of human ARPKD reveals mechanosensing pathomechanisms for drug discovery.

Perspectives on Drug Development in Autosomal Recessive Polycystic Kidney Disease.

Molecular Diagnostics of Ciliopathies and Insights Into Novel Developments in Diagnosing Rare Diseases.

Evaluation of galectin-3 and intestinal fatty acid binding protein as serum biomarkers in autosomal recessive polycystic kidney disease.

Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report.

The Enigma of Clinical Heterogeneity Among Autosomal Recessive Polycystic Kidney Disease Siblings: PKHD1 Genotype Versus Other Genomic or Environmental Modifier.

Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.

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

Genetics, pathobiology and therapeutic opportunities of polycystic liver disease.

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

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

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

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

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

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

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

Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes.

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

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.

Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene.

A human multi-lineage hepatic organoid model for liver fibrosis.

Clinical characteristics of Slovenian pediatric patients with autosomal recessive polycystic kidney disease.

Can the Enhanced Liver Fibrosis Score Be Used to Diagnose Children With Liver Fibrosis?

Autophagy-mediated reduction of miR-345 contributes to hepatic cystogenesis in polycystic liver disease.

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.

Autosomal recessive polycystic kidney disease.

Differential Diagnosis and Prognosis of Fetuses with Bilateral Enlarged, Hyperechogenic Kidneys: Renal Volume and Amniotic Fluid Volume with Advancing Gestation.

[Clinical feature and genetic analysis of a fetus with autosomal recessive polycystic kidney disease].

Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease-are patient-centered outcomes our blind spot?

Therapeutic Potential for CFTR Correctors in Autosomal Recessive Polycystic Kidney Disease.

Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease.

Two-dimensional (2D) morphologic measurements can quantify the severity of liver disease in children with autosomal recessive polycystic kidney disease (ARPKD).

Rapid B1-Insensitive MR Fingerprinting for Quantitative Kidney Imaging.

[Diagnosis of a case of autosomal recessive polycystic kidney disease with combined prenatal imaging and genetic testing].

Infant presenting with pyloric stenosis and autosomal recessive polycystic kidney disease at 36 weeks' postmenstrual age (PMA).

Congenital hepatic fibrosis: case report and review of literature.

Risk factors for post-nephrectomy hypotension in pediatric patients.

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

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

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

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

Fibrocystic liver disease: novel concepts and translational perspectives.

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

Early clinical management of autosomal recessive polycystic kidney disease.

Polycystic liver disease genes: Practical considerations for genetic testing.

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

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

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

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

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

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases.

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

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

Exploring the Spectrum of Kidney Ciliopathies.

Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys.

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

Caroli's Syndrome: An Early Presentation.

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

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

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

Prevalence, risk factors and disease knowledge of polycystic kidney disease in Pakistan.

Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review.

The carboxy-terminus of the human ARPKD protein fibrocystin can control STAT3 signalling by regulating SRC-activation.

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome.

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.

Collecting duct cells show differential retinoic acid responses to acute versus chronic kidney injury stimuli.

Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD).