Journal
CLINICAL GENETICS
Volume 94, Issue 1, Pages 125-131Publisher
WILEY
DOI: 10.1111/cge.13249
Keywords
ADPKD; genotype-phenotype; polycystic kidney disease; polycystic liver disease; total kidney volume
Categories
Funding
- Takeda Science Foundation
- Ministry of Health, Labor and Welfare
- Salt Science Research Foundation [1422, 1629]
- Banyu Life Science Foundation International
- Japan Society for the Promotion of Science [25221306, 16H05314, 15K15327, 16K15467, 17H06657]
- Grants-in-Aid for Scientific Research [16K15467, 16H05314, 17H06657, 15K15327] Funding Source: KAKEN
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Distinguishing autosomal-dominant polycystic kidney disease (ADPKD) from other inherited renal cystic diseases in patients with adult polycystic kidney disease and no family history is critical for correct treatment and appropriate genetic counseling. However, for patients with no family history, there are no definitive imaging findings that provide an unequivocal ADPKD diagnosis. We analyzed 53 adult polycystic kidney disease patients with no family history. Comprehensive genetic testing was performed using capture-based next-generation sequencing for 69 genes currently known to cause hereditary renal cystic diseases including ADPKD. Through our analysis, 32 patients had PKD1 or PKD2 mutations. Additionally, 3 patients with disease-causing mutations in NPHP4, PKHD1, and OFD1 were diagnosed with an inherited renal cystic disease other than ADPKD. In patients with PKD1 or PKD2 mutations, the prevalence of polycystic liver disease, defined as more than 20 liver cysts, was significantly higher (71.9% vs 33.3%, P = .006), total kidney volume was significantly increased (median, 1580.7 mL vs 791.0 mL, P = .027) and mean arterial pressure was significantly higher (median, 98 mm Hg vs 91 mm Hg, P = .012). The genetic screening approach and clinical features described here are potentially beneficial for optimal management of adult sporadic polycystic kidney disease patients.
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