Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Author:

Sekine AkinariORCID,Hidaka Sumi,Moriyama Tomofumi,Shikida Yasuto,Shimazu Keiji,Ishikawa Eiji,Uchiyama KiyotakaORCID,Kataoka HiroshiORCID,Kawano Haruna,Kurashige Mahiro,Sato Mai,Suwabe Tatsuya,Nakatani Shinya,Otsuka Tadashi,Kai HirayasuORCID,Katayama KanORCID,Makabe Shiho,Manabe Shun,Shimabukuro WataruORCID,Nakanishi KoichiORCID,Nishio Saori,Hattanda Fumihiko,Hanaoka Kazushige,Miura KenichiroORCID,Hayashi Hiroki,Hoshino JunichiORCID,Tsuchiya Ken,Mochizuki Toshio,Horie Shigeo,Narita Ichiei,Muto SatoruORCID

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease, with patients often having a positive family history that is characterized by a similar phenotype. However, in atypical cases, particularly those in which family history is unclear, a differential diagnosis between ADPKD and other cystic kidney diseases is important. When diagnosing ADPKD, cystic kidney diseases that can easily be excluded using clinical information include: multiple simple renal cysts, acquired cystic kidney disease (ACKD), multilocular renal cyst/multilocular cystic nephroma/polycystic nephroma, multicystic kidney/multicystic dysplastic kidney (MCDK), and unilateral renal cystic disease (URCD). However, there are other cystic kidney diseases that usually require genetic testing, or another means of supplementing clinical information to enable a differential diagnosis of ADPKD. These include autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant tubulointerstitial kidney disease (ADTKD), nephronophthisis (NPH), oral-facial-digital (OFD) syndrome type 1, and neoplastic cystic kidney disease, such as tuberous sclerosis (TSC) and Von Hippel-Lindau (VHL) syndrome. To help physicians evaluate cystic kidney diseases, this article provides a review of cystic kidney diseases for which a differential diagnosis is required for ADPKD.

Funder

Grant-in-Aid for Intractable Renal Diseases Research, Research on Rare and Intractable Diseases

Health and Labour Sciences Research Grants from the Ministry of Health, Labour and Welfare of Japan

Publisher

MDPI AG

Subject

General Medicine

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