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Article

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

Clinical genetics - 1 Jul 2018

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polycystic Kidney, Autosomal Dominant

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Source

Identifiers

PMID: 29520754
DOI: 10.1111/cge.13249

Genes

PKD1
PKD2
NPHP4
PKHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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