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

@article{Alzarka2017DesignAI,
  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},
  year={2017},
  volume={5}
}
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… 

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TLDR
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.

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TLDR
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.

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TLDR
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.

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TLDR
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.

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TLDR
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.

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