Global Conference on Pulmonology and Respiratory Medicine | September 29, 30 - October 01, 2022 | Online

Mário Sousa and Rute Pereira

University of Porto, Portugal


Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive disease caused by mutations in genes associated with development, structure and/or function of motile cilia. Most PCD patients present respiratory life-threatening pathologies, such as neonatal respiratory distress, bronchiectasis and persistent pneumonia, but sub-fertility or infertility, laterality defects and hydrocephalus, can be present in PCD patients. The diagnosis of PCD is challenging. The major difficulty in PCD diagnosis is the clinical presence of a wide phenotypical spectrum that is not specific of PCD. Most of the PCD respiratory symptoms are also present in a major group of diseases named chronic airway inflammatory diseases (CAIDs), which include more prevalent disorders. Further, PCD is often neglected when patients are searching a reason for their infertility. Hence, PCD is often largely misdiagnosed or diagnosed late in life, which impairs to offer patients the best therapeutic option. Even without cure, an early diagnosis allows an interdisciplinary management, which increases the quality of life and prognosis of patients and allows genetic counselling orientated towards the avoidance of disease transmission. 

Here we will present a comprehensive clinical, functional, ultrastructural and genetic characterization of two PCD cases in which infertility was also present. Further, we will show data from mRNA and protein studies that were made to confirm the pathogenicity of the genetic findings. We will also discuss about current challenges, on-going clinical trials and opportunities in PCD. 

With this presentation, we aim to share some of the work that we have been done in PCD and mainly to increase awareness about PCD, thus helping to reduce the misdiagnosed cases


Mário Sousa, M.D., Ph.D, ful professor, works at the University of Porto, Portugal. In France (with Jan Tesarik), firstly developed ICSI, firstly described the mechanisms of ICSI, ICSI failures and human oocyte activation. In Germany (with Prof. Vogt) firstly established Y-chromosome regions to male infertility phenotypes. In Spain (with Nieves Cremades), firstly developed in-vitro maturation of round spermatids to mature sperm. In Portugal, firstly developed PGT to Paramyloidosis and firstly demonstrated imprinting defects in human sperm. He actively participated in Portuguese Assisted Reproduction Laws. He is responsible for several scientific projects, PhD students and scientific publications (ORCID:

Rute Pereira, PhD, invited Assistant Professor at ICBAS University of Porto, Portugal, and junior researcher that ended its PhD in 2019 in which she studied the genetic background of patients with PCD and situs inversus totalis, demonstrating its genotype-phenotype correlations. Besides the discovery of new variants, she first described gene interaction in PCD. She has 14 scientific articles and supervised/co-supervised graduated students. She has experience in animal experimentation, cell culture, molecular biology techniques (Western-blot, 2D electrophoresis, qPCR, Sanger sequencing), genetics (omics), bioinformatics, and microscopy (fluorescence, confocal). She is the responsible for performing High-speed video microscopy (HSVM) analysis for PCD external diagnosis.