Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases

  title={Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases},
  author={Bakri Alzarka and Hiroki Morizono and John W. Bollman and Dongkyu Kim and L. M. Guay-Woodford},
  journal={Frontiers in Pediatrics},
Autosomal recessive polycystic kidney disease (ARPKD) and other hepatorenal fibrocystic diseases (HRFD) are relatively rare recessive disorders that constitute an important set of childhood nephropathies. Little is known about fundamental pathogenesis, and advances toward clinical trials will require well-characterized patient cohorts and the development of predictive and prognostic biomarkers. Such studies in rare diseases require greater collaboration than the efforts in common diseases where… 

Polycystic kidney disease

This Primer provides an overview of the current knowledge of PKD pathogenesis and its treatment and suggests that genetic diagnosis might benefit families and improve the clinical management of patients, which might be enhanced even further with emerging therapeutic options.

Polycystic kidney disease.

An overview of the current knowledge of polycystic kidney disease and its treatment is provided and many important questions about the pathogenesis of PKD remain.

Insights Into the Molecular Mechanisms of Polycystic Kidney Diseases

Current knowledge about the fundamental aspects of PKD development including the PC1/PC2 pathways and cilia-associated mechanisms, major molecular cascades related to metabolism, mitochondrial bioenergetics, and systemic responses that affect its progression are highlighted.

ADPedKD: A Global Online Platform on the Management of Children With ADPKD

Metabolic Changes in Polycystic Kidney Disease as a Potential Target for Systemic Treatment

Important results in the field regarding metabolic changes in PKD and their modulation as a potential target of systemic treatment are reviewed.

Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.

Population whole-genome sequencing suggests a higher than expected prevalence of ADPKD-associated mutations, and loss-of-function mutations in ADPLD genes are also more common than expected, suggesting the possibility of unrecognized cases and incomplete penetrance.

Congenital Hepatic Fibrosis in Children and Adults: Clinical Manifestations, Management, and Outcome—Case Series and Literature Review

Serious complications of portal hypertension developed in children requiring liver transplantation, while adults often had mild-to-moderate liver injuries upon onset, according to the patients' age.

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

Genetic, clinical, and imaging predictors of kidney and liver disease progression in ADPKD and ARPKD are reviewed and pharmacologic therapies to prevent progression are summarized.

Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease

The clinics, treatment, genetics, and molecular basis of AR PKD are reviewed, highlighting the most recent findings in the field and the function of the ARPKD proteins and the molecular mechanism currently remain incompletely understood.

Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family

It is revealed that DNAJB11 biallelic mutations may cause an antenatal severe form of ARPKD and contributes to understanding the DNAJB 11-related ADPKD phenotype.



Autosomal recessive polycystic kidney disease: the clinical experience in North America.

In the subset of long-term survivors, ARPKD has a slower rate of disease progression, as assessed by age of AR PKD diagnosis, as well as age of diagnosis of clinical morbidities, which suggests that disease progression may have organ-specific patterns.

Autosomal Recessive Polycystic Kidney Disease: A Hepatorenal Fibrocystic Disorder With Pleiotropic Effects

The spectrum of clinical manifestations of ARPKD is outlined and genetics of the disease, clinical and genetic diagnosis, perinatal management, management of organ-specific complications, and future directions for disease monitoring and potential therapies are reviewed.

Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases.

The genetics of this disorder is discussed and an overview of the associated pathobiology is provided; the spectrum of clinical manifestations of ARPKD and the management of organ-specific complications are outlined; other disorders that involve genes encoding cilia-associated proteins that can clinically mimic AR PKD are discussed; the animal models available for preclinical studies are reviewed; and future directions for potential targeted therapies are considered.

Clinical and Molecular Characterization Defines a Broadened Spectrum of Autosomal Recessive Polycystic Kidney Disease (ARPKD)

A broadened spectrum for the ARPKD phenotype is indicated and that later presenting cases with predominant liver disease should be considered part of AR PKD.

Liver and kidney disease in ciliopathies

  • M. Gunay‐Aygun
  • Medicine
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2009
The kidney pathology in ciliopathies ranges from non‐functional cystic dysplastic kidneys to an isolated urinary concentration defect; the disorders contributing to this pathology, in addition to ADPKD and ARPKD, include nephronophithisis (NPHP), glomerulocystic kidney disease and medullary sponge kidneys.

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

This is the first study that reports the long-term outcome of ARPKD patients with defined PK HD1 mutations, indicating that PKHD1 mutation screening is a powerful diagnostic tool in patients suspected with AR PKD.

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

Combined use of conventional and high-resolution US with MR cholangiography in ARPKD/CHF patients allows detailed definition of the extent of kidney and hepatobiliary manifestations without requiring ionizing radiation and contrast agents.

Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender

The results indicate that the long‐term prognosis in the majority of cases is better throughout childhood and youth than often stated.