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多囊性马蹄形肾病例报告:基因审查。

Polycystic horseshoe kidney case report: Genetically reviewed.

机构信息

Nephrology Unit; Department of Medicine, King Saud University Medical City, Riyadh, Saudi Arabia.

Department of Medicine, King Saud University Medical City, Riyadh, Saudi Arabia.

出版信息

Saudi J Kidney Dis Transpl. 2021 Mar-Apr;32(2):574-578. doi: 10.4103/1319-2442.335474.

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease, with a reported prevalence ranging from one in 400 to one in 1000. ADPKD accounts for as high as 10% of end-stage renal disease cases. It is characterized by cystic formation replacing kidney parenchyma leading to renal enlargement and renal functional impairment. Consequently, it is associated with renal and extrarenal complications contributing to high mortality. On the other hand, horseshoe kidney (HSK) is a common congenital renal anomaly, with an incidence ranging between one in 400 and 600. Surprisingly, the coexistence of both distinct common clinical conditions is extremely rare, and it is thought that the incidence of polycystic HSK varies from one in 134,000 to one in 8,000,000 cases. Although the particular genetic association is not established, familial cases raise the question of whether they are related. We report this case to cultivate the current medical literature regarding this rare entity.

摘要

常染色体显性多囊肾病(ADPKD)是最常见的遗传性肾脏疾病,据报道其患病率为每 400 至 1000 人中就有 1 例。ADPKD 占终末期肾病病例的 10%之高。其特征是囊性形成取代肾实质,导致肾脏增大和肾功能损害。因此,它与导致高死亡率的肾脏和肾外并发症有关。另一方面,马蹄肾(HSK)是一种常见的先天性肾脏异常,其发病率在每 400 至 600 例之间。令人惊讶的是,这两种截然不同的常见临床病症同时存在的情况极为罕见,据认为多囊性 HSK 的发病率为每 134000 至 8000000 例。尽管尚未确定特定的遗传关联,但家族病例提出了它们是否相关的问题。我们报告这个病例是为了丰富关于这一罕见实体的当前医学文献。

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