Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease

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, th...

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Bibliographic Details
Published in:Clinical genetics 2018-07, Vol.94 (1), p.125-131
Main Authors: Fujimaru, T., Mori, T., Sekine, A., Mandai, S., Chiga, M., Kikuchi, H., Ando, F., Mori, Y., Nomura, N., Iimori, S., Naito, S., Okado, T., Rai, T., Hoshino, J., Ubara, Y., Uchida, S., Sohara, E.
Format: Article
Language:English
Subjects:
ADPKD
Blood pressure
Cysts
Family medical history
Genetic counseling
Genetic screening
genotype‐phenotype
Kidney diseases
Kidneys
Liver diseases
Mutation
Patients
Polycystic kidney
polycystic kidney disease
polycystic liver disease
total kidney volume
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Summary: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. Adult polycystic kidney disease patients with no family history (n = 53).
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13249