Journal of Clinical Medicine (Nov 2022)

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

  • Akinari Sekine,
  • Sumi Hidaka,
  • Tomofumi Moriyama,
  • Yasuto Shikida,
  • Keiji Shimazu,
  • Eiji Ishikawa,
  • Kiyotaka Uchiyama,
  • Hiroshi Kataoka,
  • Haruna Kawano,
  • Mahiro Kurashige,
  • Mai Sato,
  • Tatsuya Suwabe,
  • Shinya Nakatani,
  • Tadashi Otsuka,
  • Hirayasu Kai,
  • Kan Katayama,
  • Shiho Makabe,
  • Shun Manabe,
  • Wataru Shimabukuro,
  • Koichi Nakanishi,
  • Saori Nishio,
  • Fumihiko Hattanda,
  • Kazushige Hanaoka,
  • Kenichiro Miura,
  • Hiroki Hayashi,
  • Junichi Hoshino,
  • Ken Tsuchiya,
  • Toshio Mochizuki,
  • Shigeo Horie,
  • Ichiei Narita,
  • Satoru Muto

DOI
https://doi.org/10.3390/jcm11216528
Journal volume & issue
Vol. 11, no. 21
p. 6528

Abstract

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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.

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