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

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.

常染色体显性多囊肾病（ADPKD）是最常见的遗传性囊性肾病，患者通常有阳性家族史，其特征是具有相似的表型。然而，在非典型病例中，特别是家族史不明确的病例中，对ADPKD和其他囊性肾病进行鉴别诊断是很重要的。在诊断ADPKD时，利用临床信息可轻易排除的囊性肾病包括：多发性单纯性肾囊肿、获得性囊性肾病（ACKD）、多房性肾囊肿/多房性囊性肾瘤/多囊性肾瘤、多囊肾/多囊性发育不良肾（MCDK）以及单侧肾囊性疾病（URCD）。然而，还有其他一些囊性肾病通常需要进行基因检测，或通过其他补充临床信息的方法来对ADPKD进行鉴别诊断。这些疾病包括常染色体隐性多囊肾病（ARPKD）、常染色体显性肾小管间质肾病（ADTKD）、肾单位肾痨（NPH）、口-面-指（OFD）综合征1型以及肿瘤性囊性肾病，如结节性硬化症（TSC）和冯·希佩尔 - 林道（VHL）综合征。为了帮助医生评估囊性肾病，本文对需要与ADPKD进行鉴别诊断的囊性肾病进行了综述。