Primary Ciliary Dyskinesia and Situs Ambiguus: A Rare Association.

Autor: Narahari KN; Department of Respiratory Medicine, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India., Kapoor A; Department of Radiology and Imaging, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India., Sanamandra SK; Department of Diagnostic Radiology, Singapore General Hospital, Singapore., Varma Gunturi SR; Department of Surgical Gastroenterology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
Jazyk: angličtina
Zdroj: International journal of applied & basic medical research [Int J Appl Basic Med Res] 2018 Jan-Mar; Vol. 8 (1), pp. 48-50.
DOI: 10.4103/ijabmr.IJABMR_341_16
Abstrakt: Primary ciliary dyskinesia (PCD) is a rare disorder with impaired ciliary function resulting in a spectrum of clinical manifestations of varying severity. PCD affects approximately one in every 20,000 individuals with a reported prevalence between 1:4000 and 1:50,000. Due to its nonspecific clinical features, the condition is usually diagnosed late in its course, unless situs inversus (SI) or organ laterality defects are discovered at imaging. A small subset of patients with PCD display associated organ laterality defects, different from the classical SI totalis. We present here, the clinical and imaging findings in a young female with PCD along with left-sided isomerism, a variant of heterotaxy syndromes.
Competing Interests: There are no conflicts of interest.
Databáze: MEDLINE