Department of Urology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Urology. 2012 Aug;80(2):e23-4. doi: 10.1016/j.urology.2012.04.009. Epub 2012 Jun 16.
Situs inversus totalis and autosomal dominant polycystic kidney disease (ADPKD) occur with an incidence of 1/10,000 in the general population and 1 in 1000 live births, respectively. Association of the two conditions is rare and there are few pediatric case reports. Association of situs inversus totalis and autosomal recessive polycystic kidney disease has also been reported. Recent studies have revealed ciliary dysfunction as a cause of both conditions.
全内脏反位和常染色体显性多囊肾病(ADPKD)在普通人群中的发病率分别为 1/10000 和每 1000 例活产儿中 1 例。这两种情况的联合发生非常罕见,儿科病例报告也很少。全内脏反位和常染色体隐性多囊肾病的联合发生也有报道。最近的研究表明,纤毛功能障碍是这两种疾病的共同病因。