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J Am Soc Nephrol. 2018 Jan;29(1):13-23. doi: 10.1681/ASN.2017050483. Epub 2017 Oct 16.

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Author information

1
Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota; and.
2
Department of Nephrology, University Hospital, European University of Brittany, and National Institute of Health and Medical Sciences, INSERM U1078, Brest, France.
3
Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota; and harris.peter@mayo.edu.

Abstract

Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis, between two groups of inherited disorders, autosomal dominant polycystic kidney diseases (ADPKD), a significant cause of ESRD, and autosomal dominant polycystic liver diseases (ADPLD), which result in significant PLD with minimal PKD. Eight genes have been associated with ADPKD (PKD1 and PKD2), ADPLD (PRKCSH, SEC63, LRP5, ALG8, and SEC61B), or both (GANAB). Although genetics is only infrequently used for diagnosing these diseases and prognosing the associated outcomes, its value is beginning to be appreciated, and the genomics revolution promises more reliable and less expensive molecular diagnostic tools for these diseases. We therefore propose categorization of patients with a phenotypic and genotypic descriptor that will clarify etiology, provide prognostic information, and better describe atypical cases. In genetically defined cases, the designation would include the disease and gene names, with allelic (truncating/nontruncating) information included for PKD1 Recent data have shown that biallelic disease including at least one weak ADPKD allele is a significant cause of symptomatic, very early onset ADPKD. Including a genic (and allelic) descriptor with the disease name will provide outcome clues, guide treatment, and aid prevalence estimates.

KEYWORDS:

ADPKD; cystic kidney; liver cysts; polycystic kidney disease

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