Prevalence of primary ciliary dyskinesia in adult patients with bronchiectasis of unknown cause

• Grant number: 14/18049-9
• Support Opportunities: Regular Research Grants
• Start date: September 01, 2015
• End date: August 31, 2017
• Field of knowledge: Health Sciences - Medicine - Pathological Anatomy and Clinical Pathology
• Principal Investigator: Thais Mauad
• Grantee: Thais Mauad
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated researchers: Mariangela Macchione ; Mary Anne Kowal Olm. ; Paulo Hilário Nascimento Saldiva ; Rafael Stelmach ; Rodrigo Abensur Athanazio ; Samia Zahi Rached

Abstract

Primary ciliary dyskinesia (PCD) is typically an autosomal recessive genetic heterogeneous disease, which is characterized by a disorder of motile cilia and is present in cells of the upper and lower respiratory tract and in the tail of the sperm (modified cilium). The consequent change in mucociliary clearance due to a ciliary defect causes a spectrum of clinical manifestations including neonatal respiratory distress syndrome, recurrent respiratory infections, bronchiectasis, male infertility and visceral laterality defects. It is estimated that the worldwide prevalence of primary ciliary dyskinesia is around 1:15,000 to 1:20,000 individuals, and the low number of cases diagnosed around the world can be linked to the fact that few centers have adequate resources for their research. This study presents a proposal for primary ciliary dyskinesia diagnosis in an adult population with bronchiectasis of unknown cause. The study is innovative in that it introduces the test of nasal nitric oxide as a screening test for the disease. It standardizes the study of ciliary function through the study of its beat frequency, as well as of the ciliary ultrastructure through research of ciliary defects in transmission electron microscopy. The disease characteristics will also be studied after its diagnosis, thereby enabling follow-up studies. The standardization of the diagnostic investigation of primary ciliary dyskinesia at São paulo University represents a technological innovation and ensures access to the disease diagnosis in the country. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

KOWAL OLM, MARY ANNE; LIMA MARSON, FERNANDO AUGUSTO; ATHANAZIO, RODRIGO ABENSUR; NAKAGAWA, NAOMI KONDO; MACCHIONE, MARIANGELA; LOGES, NIKI TOMAS; OMRAN, HEYMUT; RACHED, SAMIA ZAHI; BERTUZZO, CARMEN SILVIA; STELMACH, RAFAEL; et al. Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil. SCIENTIFIC REPORTS, v. 9, JUN 18 2019. (14/18049-9, 15/12183-8, 15/12858-5)