Pennekamp Petra, Menchen Tabea, Dworniczak Bernd, Hamada Hiroshi
Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
Department of Human Genetics, University Hospital Muenster, 48149 Muenster, Germany.
Cilia. 2015 Jan 14;4(1):1. doi: 10.1186/s13630-014-0010-9. eCollection 2015.
Heterotaxy (also known as situs ambiguous) and situs inversus totalis describe disorders of laterality in which internal organs do not display their typical pattern of asymmetry. First described around 1600 by Girolamo Fabrizio, numerous case reports about laterality disorders in humans were published without any idea about the underlying cause. Then, in 1976, immotile cilia were described as the cause of a human syndrome that was previously clinically described, both in 1904 by AK Siewert and in 1933 by Manes Kartagener, as an association of situs inversus with chronic sinusitis and bronchiectasis, now commonly known as Kartagener's syndrome. Despite intense research, the underlying defect of laterality disorders remained unclear. Nearly 20 years later in 1995, Björn Afzelius discussed five hypotheses to explain the connection between ciliary defects and loss of laterality control in a paper published in the International Journal of Developmental Biology asking: 'Situs inversus and ciliary abnormalities: What is the connection?'. Here, nearly 20 research years later, we revisit some of the key findings that led to the current knowledge about the connection between situs inversus and ciliary abnormalities.
内脏异位（也称为位置不明确）和完全性内脏反位描述的是一种左右侧异常疾病，即体内器官未呈现其典型的不对称模式。1600年左右，吉罗拉莫·法布里齐奥首次对其进行了描述，随后发表了大量关于人类左右侧异常的病例报告，但当时对其根本原因一无所知。1976年，不动纤毛被描述为一种人类综合征的病因，此前在1904年由AK·西韦特以及1933年由马内斯·卡塔格纳在临床上对该综合征进行过描述，即内脏反位与慢性鼻窦炎和支气管扩张的关联，现在通常称为卡塔格纳综合征。尽管进行了深入研究，但左右侧异常的根本缺陷仍不明确。将近20年后的1995年，比约恩·阿夫泽利乌斯在发表于《国际发育生物学杂志》的一篇论文中讨论了五种假说，以解释纤毛缺陷与左右侧控制丧失之间的联系，并提出疑问：“内脏反位与纤毛异常：有什么联系？”。在此，将近20个研究年头之后，我们回顾一些关键发现，这些发现促成了目前关于内脏反位与纤毛异常之间联系的认识。
