HOSHINO Junichi
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine
   Position   Professor and Division head
Article types Review article
Language English
Peer review Peer reviewed
Title Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Journal Formal name:Journal of clinical medicine
Abbreviation:J Clin Med
ISSN code:20770383/20770383
Domestic / ForeginForegin
Volume, Issue, Page 11(21),pp.6528
Author and coauthor Sekine Akinari, Hidaka Sumi, Moriyama Tomofumi, Shikida Yasuto, Shimazu Keiji, Ishikawa Eiji, Uchiyama Kiyotaka, Kataoka Hiroshi, Kawano Haruna, Kurashige Mahiro, Sato Mai, Suwabe Tatsuya, Nakatani Shinya, Otsuka Tadashi, Kai Hirayasu, Katayama Kan, Makabe Shiho, Manabe Shun, Shimabukuro Wataru, Nakanishi Koichi, Nishio Saori, Hattanda Fumihiko, Hanaoka Kazushige, Miura Kenichiro, Hayashi Hiroki, Hoshino Junichi, Tsuchiya Ken, Mochizuki Toshio, Horie Shigeo, Narita Ichiei, Muto Satoru
Publication date 2022/11
Summary 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.
DOI 10.3390/jcm11216528
PMID 36362756