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Int Med Case Rep J 2018 10;11:359-362. Epub 2018 Dec 10.

Division of Nephrology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan,

We herein report the case of a 36-year-old woman with Kartagener syndrome (KS), which is an autosomal recessive disorder defined by a triad of bronchiectasis, sinusitis, and situs inversus, with complications of asymptomatic microhematuria and proteinuria. She was finally diagnosed with biopsy-proven immunoglobulin (Ig) A nephropathy. KS constitutes a subgroup of primary ciliary dyskinesia (PCD) characterized by structural and/or functional ciliary abnormalities resulting in sinopulmonary involvement with varying severity. Read More

BMC Pulm Med 2018 Dec 18;18(1):194. Epub 2018 Dec 18.

Radiology Department, Groupe Hospitalier Cochin-Hôtel Dieu, AP-HP, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.

Background: The present study aimed to develop an automated computed tomography (CT) score based on the CT quantification of high-attenuating lung structures, in order to provide a quantitative assessment of lung structural abnormalities in patients with Primary Ciliary Dyskinesia (PCD).

Methods: Adult (≥18 years) PCD patients who underwent both chest CT and spirometry within a 6-month period were retrospectively included. Commercially available lung segmentation software was used to isolate the lungs from the mediastinum and chest wall and obtain histograms of lung density. Read More

Int J Pediatr Otorhinolaryngol 2018 Dec 21;115:94-96. Epub 2018 Sep 21.

Department of Otolaryngology, Georgetown University Hospital, Washington, DC, USA.

Objective: To determine whether adenoid epithelium is superior to nasal mucosa for biopsy of ciliated epithelium for electron microscopy (EM) to evaluate pediatric patients with rhinosinusitis for primary ciliary dyskinesia (PCD).

Methods: A retrospective review compared electron microscopic results in children with chronic or recurrent rhinosinusitis who underwent both adenoidectomy or nasopharyngeal biopsy and nasal mucosa biopsy in the course of evaluation for PCD at a tertiary care institution.

Results: Forty pediatric patients met inclusion criteria for this study. Read More

QJM 2018 Oct 23. Epub 2018 Oct 23.

Department of Respiratory and Critical Care Medicine, West China School of Medicine and West China Hospital, Sichuan University, No.37 Guoxue Alley, Chengdu, China.

World J Mens Health 2018 Oct 22. Epub 2018 Oct 22.

American Center for Reproductive Medicine, Cleveland Clinic, Cleveland, OH, USA.

Microtubules are the prime component of the cytoskeleton along with microfilaments. Being vital for organelle transport and cellular divisions during spermatogenesis and sperm motility process, microtubules ascertain functional capacity of sperm. Also, microtubule based structures such as axoneme and manchette are crucial for sperm head and tail formation. Read More

Rev Fac Cien Med Univ Nac Cordoba 2018 06 18;75(2):143-144. Epub 2018 Jun 18.

Hospital Rawson.

BMJ Case Rep 2018 Sep 12;2018. Epub 2018 Sep 12.

Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Primary ciliary dyskinesia (PCD) can manifest in the neonatal period with severe respiratory distress. We describe a child with PCD who presented at term with severe neonatal respiratory distress, persistent right upper lobe collapse and failure to thrive who underwent lobectomy prior to the diagnosis of PCD at the age of 3 years. This case report illustrates the severe spectrum of lung disease associated with coiled-coil domain containing protein 40 (CCDC40) gene variants in patients with PCD. Read More

Am J Respir Crit Care Med 2019 Jan;199(2):190-198

12 Department of Pediatrics, Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, North Carolina; and.

Rationale: In primary ciliary dyskinesia, factors leading to disease heterogeneity are poorly understood.

Objectives: To describe early lung disease progression in primary ciliary dyskinesia and identify associations between ultrastructural defects and genotypes with clinical phenotype.

Methods: This was a prospective, longitudinal (5 yr), multicenter, observational study. Read More

Pan Afr Med J 2018;29:160. Epub 2018 Mar 19.

Dermatology Division, Department of Medical Clinics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.

Respir Res 2018 06 25;19(1):125. Epub 2018 Jun 25.

Department of Infection, Centre for PCD Diagnosis and Research, Immunity and Inflammation, RKCSB, University of Leicester, Leicester, LE2 7LX, UK.

Background: Primary ciliary dyskinesia can result from a number of different ciliary defects that adversely affect ciliary function resulting markedly reduced or absent mucociliary clearance. Improvement in diagnostic testing is an area of current research. During diagnostic evaluation of PCD we observed ciliated conical protrusions from part of the apical surface of ciliated cells in those diagnosed with PCD. Read More

Am J Respir Crit Care Med 2018 Jun;197(12):e24-e39

Background: This document presents the American Thoracic Society clinical practice guidelines for the diagnosis of primary ciliary dyskinesia (PCD).

Target Audience: Clinicians investigating adult and pediatric patients for possible PCD.

Methods: Systematic reviews and, when appropriate, meta-analyses were conducted to summarize all available evidence pertinent to our clinical questions. Read More

Am J Hum Genet 2018 05;102(5):973-984

Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany. Electronic address:

Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open-reading frame C11orf70 in PCD individuals from five distinct families. Transmission electron microscopy analyses and high-resolution immunofluorescence microscopy demonstrate that loss-of-function mutations in C11orf70 cause immotility of respiratory cilia and sperm flagella, respectively, as a result of the loss of axonemal outer (ODAs) and inner dynein arms (IDAs), indicating that C11orf70 is involved in cytoplasmic assembly of dynein arms. Read More

Am J Hum Genet 2018 05;102(5):956-972

Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK. Electronic address:

Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characterized by destructive respiratory disease and laterality abnormalities due to randomized left-right body asymmetry. PCD is mostly caused by mutations affecting the core axoneme structure of motile cilia that is essential for movement. Genes that cause PCD when mutated include a group that encode proteins essential for the assembly of the ciliary dynein motors and the active transport process that delivers them from their cytoplasmic assembly site into the axoneme. Read More

Am J Ophthalmol Case Rep 2018 Jun 8;10:119-121. Epub 2018 Feb 8.

Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, 900 NW 17th Avenue, Miami, FL, 33136, USA.

Purpose: We present the first case in the literature of a patient with Kartagener syndrome and ocular findings of nonexudative age-related macular degeneration.

Observations: A 55-year-old woman with Kartagener syndrome and chronic angle closure glaucoma presented for evaluation of the retina. Optos ultra-widefield imaging of the fundus showed glaucomatous cupping, drusen, and retinal pigment epithelium changes within the macular region. Read More

Biomed Res Int 2018 8;2018:1854269. Epub 2018 Jan 8.

Department of Respiratory Medicine, Diagnosis and Treatment Center of Respiratory Disease, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.

Primary ciliary dyskinesia (PCD) is a clinical rare peculiar disorder, mainly featured by respiratory infection, tympanitis, nasosinusitis, and male infertility. Previous study demonstrated it is an autosomal recessive disease and by 2017 almost 40 pathologic genes have been identified. Among them are the leucine-rich repeat- (LRR-) containing 6 (LRRC6) codes for a 463-amino-acid cytoplasmic protein, expressed distinctively in motile cilia cells, including the testis cells and the respiratory epithelial cells. Read More

Eur J Pediatr 2018 May 27;177(5):765-773. Epub 2018 Feb 27.

Faculty of Health Sciences, Department of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey.

Primary ciliary dyskinesia (PCD) restricts lifestyle and increases morbidity. The aim of the study was to investigate anaerobic and aerobic performance in children with PCD and their healthy counterparts. Thirty-one children with PCD and 29 age- and sex-matched healthy subjects were studied. Read More

Int J Pediatr Otorhinolaryngol 2018 Feb 14;105:176-180. Epub 2017 Dec 14.

Royal Brompton and Harefield NHS Trust, Sydney Street, London, SW3 6NP, UK.

Introduction: Primary Ciliary Dyskinesia (PCD) describes a group of inherited disorders that result in abnormal ciliary motion leading to mucous stasis. Clinical features include almost universally otitis media with effusion (OME), particularly in infants. PCD patients provide us with a cohort of patients with OME that is not treated with ventilatory tube (VT) insertion as these have been shown to result in frequent complications including chronic otorrhoea, early extrusion and persistent perforation without significant improvement to hearing in the long term. Read More

Zhonghua Er Ke Za Zhi 2018 Feb;56(2):134-137

Division of Pediatric Palmonology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250021, China.

To analyze the clinical manifestations, cilia ultrastructure and gene variations of primary ciliary dyskinesia (PCD). Analysis of three cases diagnosed as PCD by transmission electron microscopy of the endobronchial biopsy material in Division of Pediatric Pulmonology of Shandong Provincial Hospital between 2013 and 2016. Target gene sequence capture and next generation sequencing were used to analyze the gene. Read More

Reprod Biol Endocrinol 2018 Feb 5;16(1):10. Epub 2018 Feb 5.

Department of Obstetrics and Gynecology, Ankara University School of Medicine, Center for Assisted Reproduction, Ankara Universitesi Tip Fakultesi Cebeci Hastanesi, Kadin Hastaliklari ve Dogum AD, ÜYTE Merkezi, Dikimevi-Ankara, Turkey.

Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive disease with abnormalities in the structure of cilia, causing impairment of muco-ciliary clearance with respiratory tract infections, heterotaxia and abnormal sperm motility with male infertility. Here, with a comprehensive literature review, we report a couple with an infertility history of 9 years and three unsuccessful IVF treatments, where male partner has Kartagener's Syndrome, a subtype of PCD, displaying recurrent respiratory infections, dextrocardia and total asthenozoospermia. His diagnosis was verified with transmission electron microscopy and genetic mutation screening, revealing total absence of dynein arms in sperm tails and homozygous mutation in the ZMYND10, heterozygous mutations in the ARMC4 and DNAH5 genes. Read More

Respir Physiol Neurobiol 2018 05 31;251:1-7. Epub 2018 Jan 31.

AP-HP, Unité d'Exploration Fonctionnelle Respiratoire, Hôpital Armand-Trousseau, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, INSERM, Centre de Recherche Saint-Antoine (CRSA), Paris, France. Electronic address:

Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) both entail bronchiectasis and pulmonary impairment as measured using spirometry, during childhood. We aimed at looking whether blood gas exchanges progressed differently between CF and PCD children in a retrospective study of repeated measurements. Comparisons between groups (Wilcoxon-Mann-Whitney and Chi-squared tests) and a mixed linear model, adjusted for age, evaluated associations between diseases and PaO, PaCO or PaOPaCO ratio. Read More

J Med Case Rep 2018 Jan 10;12(1). Epub 2018 Jan 10.

Department of Radiology, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.

Background: Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. Abnormal ciliary structure or function leading to impaired ciliary motility is the main pathophysiologic problem in Kartagener's syndrome.

Case Presentation: A 24-year-old man from Gondar town, North-West Ethiopia, presented to University of Gondar Hospital with recurrent episodes of nasal congestion with itching and paranasal discomfort, and productive cough for more than a decade. Read More

Brain Struct Funct 2018 May 4;223(4):1937-1952. Epub 2018 Jan 4.

School of Clinical Sciences, Clinical Research Imaging Centre (CRIC), University of Edinburgh, Edinburgh, UK.

Magnetic resonance imaging was used to investigate brain structural and functional asymmetries in 15 participants with complete visceral reversal (situs inversus totalis, SIT). Language-related brain structural and functional lateralization of SIT participants, including peri-Sylvian gray and white matter asymmetries and hemispheric language dominance, was similar to those of 15 control participants individually matched for sex, age, education, and handedness. In contrast, the SIT cohort showed reversal of the brain (Yakovlevian) torque (occipital petalia and occipital bending) compared to the control group. Read More

J Community Hosp Intern Med Perspect 2017 14;7(6):378-380. Epub 2017 Dec 14.

Division of Cardiology, NewYork-Presbyterian Brooklyn Methodist Hospital, Brooklyn, NY, USA.

A 48-year-old man with dextrocardia presented with atypical chest pain for 2 hours. Right-side ECG showed convex upward ST elevations in leads V4 and V5. Coronary angiogram showed complete occlusion of mid portion of the left anterior descending artery (LAD). Read More

Int J Pediatr Otorhinolaryngol 2018 Jan 11;104:161-165. Epub 2017 Nov 11.

Department of Otolaryngology-Head & Neck Surgery, Medical University of South Carolina, 135 Rutledge Ave, MSC 550, Charleston, SC 29425, USA.

Objectives: To evaluate the type and severity of hearing impairment in pediatric patients with primary ciliary dyskinesia (PCD) and relate these measures to patient demographics, treatment options, and other otologic factors.

Methods: A retrospective analysis of children with a diagnosis of PCD, Kartagener's syndrome, or situs inversus in the AudGen Database was conducted. Audiograms were analyzed for type of hearing loss (HL), severity, laterality, and progression. Read More

Cureus 2017 Sep 11;9(9):e1678. Epub 2017 Sep 11.

Department of Medicine, Shifa International Hospital.

Kartagener syndrome (KS) is a rare autosomal recessive genetic ciliary disorder characterized by situs inversus, chronic sinusitis, bronchiectasis, and infertility. KS is associated with ultrastructural anomalies of the cilia in epithelial cells covering the upper and lower respiratory tracts and spermatozoa flagella. This case describes a patient with KS with situs inversus and sudden onset bronchiectasis with a sharp decline in respiratory function presenting later in life but without sinusitis or infertility. Read More

Otol Neurotol 2017 12;38(10):e451-e456

*Department of Otorhinolaryngology, Head and Neck Surgery, Mie University Graduate School of Medicine †Department of Otorhinolaryngology, Mie National Hospital ‡Electron Microscopy Research Center §Central Clinical Laboratories, Mie University Graduate School of Medicine ||Institute for Clinical Research, Mie National Hospital ¶Division of Personalized Medicine, Mie University Graduate School of Medicine, Tsu, Mie, Japan.

Objective: To evaluate otologic features of primary ciliary dyskinesia (PCD), especially eardrum features, audiometric findings, and clinical course.

Study Design: Retrospective patient review.

Setting: Tertiary referral center. Read More

Thorax 2018 02 13;73(2):101-102. Epub 2017 Nov 13.

Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.

Chron Respir Dis 2017 Nov 6;14(4):392-406. Epub 2017 Mar 6.

1 Department of Pediatrics, Rainbow Babies and Children's Hospital, Case Western Reserve University School of Medicine, Cleveland, OH, USA.

Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder associated with severely impaired mucociliary clearance caused by defects in ciliary structure and function. Although recurrent bacterial infection of the respiratory tract is one of the major clinical features of this disease, PCD airway microbiology is understudied. Despite the differences in pathophysiology, assumptions about respiratory tract infections in patients with PCD are often extrapolated from cystic fibrosis (CF) airway microbiology. Read More

Vestn Otorinolaringol 2017;82(5):61-63

А.I. Burnazyan State Research Centre, Russian Federal Medico-Biological Agency, Moscow, Russia, 123479.

This article reports a rare observation of the development of chronic polypous pansinusitis with deformation of the external nose in a 8 year-old child presenting with primary ciliary dyskinesia syndrome. The patient underwent multiple surgical interventions in the preceding period. The key argument in favour of the definitive diagnosis was the results of investigation of ciliated epithelium biopsy taken from the nasal cavity and bronchi in combination with the data obtained by diagnostic endoscopy of the nasal cavity and nasopharynx supplemented by computed tomography. Read More

BMJ Case Rep 2017 Oct 10;2017. Epub 2017 Oct 10.

Department of Cardiology, Texas Children's Hospital, Houston, Texas, USA.

Ductal origin of pulmonary artery is a rare anomaly that is frequently misdiagnosed. Patients may present with exertional dyspnoea, recurrent respiratory infections and pulmonary hypertension. The presence of pulmonary hypertension can adversely affect clinical outcome in these patients; hence, early identification and intervention is the key to improve survival. Read More

Top Companion Anim Med 2017 Jun 9;32(2):61-65. Epub 2017 Mar 9.

Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Messina, Italy.

A 4-year-old cocker spaniel, male, of 12kg body weight was presented because of the onset of polyuria or polydipsia. From the first months of its life, the dog had exhibited constant serous to mucopurulent nasal discharge, productive cough, sneezing, reverse sneezing, otitis, and recurrent episodes of fever. The respiratory signs had been treated several times with antibiotics, without ever achieving a complete resolution. Read More

Clin Pediatr (Phila) 2018 Jul 27;57(8):981-985. Epub 2017 Sep 27.

1 Ghent University Hospital, Ghent, Belgium.

Respir Med 2017 10 1;131:241-246. Epub 2017 Sep 1.

Pediatric Pulmonary Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Background: Airway infections in Primary Ciliary Dyskinesia (PCD) are caused by different microorganisms, including pseudomonas aeruginosa (PA). The aim of this study was to investigate the association of PA colonization and the progression of lung disease in PCD.

Methods: Data from 11PCD centers were retrospectively collected from 2008 to 2013. Read More

Auris Nasus Larynx 2018 Jun 19;45(3):585-591. Epub 2017 Sep 19.

Division of Personalized Medicine, Mie University Graduate School of Medicine, Tsu, Japan.

Objective: Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The early diagnosis of PCD is important for the prevention of long-term sequelae; however, this is often challenging because of the phenotypic heterogeneity of PCD and difficulty in genetic analysis. The majority of PCD patients in Japan are not diagnosed properly. Read More

Ultrastruct Pathol 2017 Nov-Dec;41(6):386-389. Epub 2017 Sep 19.

b Cyprus International Institute for Environmental & Public Health , Cyprus University of Technology , Limassol , Cyprus.

The diagnostic work-up for primary ciliary dyskinesia (PCD) traditionally includes ciliary ultrastructural assessment using transmission electron microscopy (TEM). However, the identification of genetic variants of PCD that are missed by TEM, along with the development of novel diagnostic modalities for PCD that allow structural evaluation of cilia, such as immunofluorescence analysis and the increased availability of genetic testing, calls into questioning the contemporary role of TEM in the diagnostic work-up for PCD. In this manuscript, we describe the evidence for and against the use of TEM in PCD diagnosis, in light of recent developments of PCD. Read More

Ultrastruct Pathol 2017 Nov-Dec;41(6):390-398. Epub 2017 Sep 18.

a Department of Paediatrics , Royal Brompton Hospital , London , United Kingdom.

Primary ciliary dyskinesia (PCD) is predominantly an autosomal recessively inherited condition that affects ~1 in 15,000 people. Diagnosis of PCD can be complex and is ordinarily based on the results of multiple investigations. These investigations include nasal nitric oxide, high-speed video microscopy, genotyping, and electron microscopy analysis of ciliary ultrastructure. Read More

Ultrastruct Pathol 2017 Nov-Dec;41(6):408-414. Epub 2017 Sep 18.

a Department of Paediatrics , Royal Brompton Hospital , London , United Kingdom.

Primary Ciliary Dyskinesia (PCD) is a heterogeneous genetic condition characterized by dysfunction of motile cilia. Patients suffer from chronic infection and inflammation of the upper and lower respiratory tract. Diagnosis of PCD is confirmed by identification of a hallmark defect of ciliary ultrastructure or by identification of biallelic pathogenic mutations in a known PCD gene. Read More

Ultrastruct Pathol 2017 Nov-Dec;41(6):373-385. Epub 2017 Sep 15.

b Department of Pediatrics and Marsico Lung Institute , University of North Carolina School of Medicine , Chapel Hill , North Carolina , USA.

Primary ciliary dyskinesia (PCD) is a genetic disorder causing chronic oto-sino-pulmonary disease. No single diagnostic test will detect all PCD cases. Transmission electron microscopy (TEM) of respiratory cilia was previously considered the gold standard diagnostic test for PCD, but 30% of all PCD cases have either normal ciliary ultrastructure or subtle changes which are non-diagnostic. Read More

Ultrastruct Pathol 2017 Nov-Dec;41(6):399-407. Epub 2017 Sep 11.

a Central EM-Lab, Department of Pathology , University Hospital Regensburg , Regensburg , Germany.

Routine diagnostic electron microscopy of primary ciliary dyskinesia (PCD) is based on the findings of ultrastructural defects of axonemal components. Assessment of the typical abnormalities can be enhanced by improving the sample preservation status using tannic acid (TA) as additive in the biopsy fixation or processing steps. Another option is the implementation of computer-assisted image analysis tools. Read More

Eur Respir J 2017 09 10;50(3). Epub 2017 Sep 10.

School of Medicine, University of Dundee, Dundee, UK

Eur Respir J 2017 09 10;50(3). Epub 2017 Sep 10.

NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK

Non-typeable (NTHi) is the most common pathogen in primary ciliary dyskinesia (PCD) patients. We hypothesised that abnormal ciliary motility and low airway nitric oxide (NO) levels on airway epithelial cells from PCD patients might be permissive for NTHi colonisation and biofilm development.We used a primary epithelial cell co-culture model to investigate NTHi infection. Read More

Eur Respir Rev 2017 Sep 6;26(145). Epub 2017 Sep 6.

Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre, University of Southampton, Southampton, UK

Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Read More

Ultrastruct Pathol 2017 Nov-Dec;41(6):370-372. Epub 2017 Sep 5.

b Medical School, University of Cyprus, Nicosia, Cyprus Shakolas Educational Center of Clinical Medicine Palaios Dromos Lefkosias-Lemesou 215/6, 2029 Aglantzia , Cyprus

Am J Rhinol Allergy 2017 Sep;31(5):293-298

Department of Otorhinolaryngology- Head and Neck Surgery and Audiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

Background: A correlation exists between the microbial flora of the upper and lower airways in patients with cystic fibrosis (CF) or with primary ciliary dyskinesia (PCD). The sinuses can function as a bacterial reservoir where gram-negative bacteria adapt to the airways and repeatedly are aspirated to and colonize the lungs according to the theory of the united (unified) airways. Whereas the pattern of bacterial flora in the lower airways has been extensively studied, the upper airways have drawn limited attention. Read More

N Engl J Med 2017 Aug;377(6):e8

Jewish General Hospital, Montreal, QC, Canada.

Thorax 2018 02 8;73(2):157-166. Epub 2017 Aug 8.

Genetics and Genomic Medicine, University College London, UCL Great Ormond Street Institute of Child Health, London, UK.

Rationale: Primary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence of primary ciliary dyskinesia in the UK South Asian population is 1:2265. Read More

Expert Rev Respir Med 2017 10 2;11(10):779-790. Epub 2017 Aug 2.

a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.

Introduction: Primary ciliary dyskinesia (PCD) is a rare heterogeneous disorder, usually inherited as an autosomal recessive condition but X-linked inheritance is also described. Abnormal ciliary function in childhood leads to neonatal respiratory distress in term infants, persistent wet cough, bronchiectasis, chronic rhinosinusitis, and hearing impairment; approximately 50% of patients have situs inversus. There is a paucity of evidence for treating PCD, hence consensus guidelines are predominantly influenced by knowledge from cystic fibrosis (CF). Read More

Paediatr Respir Rev 2017 Sep 12;24:19-20. Epub 2017 Jun 12.

Departments of Pediatrics, Cell Biology, and Physiology, Washington University, St. Louis, MO, USA. Electronic address:

Primary ciliary dyskinesia is an inherited disease characterized by impaired ciliary function leading to diverse clinical manifestations, including chronic sinopulmonary disease, persistent middle ear effusions, laterality defects, and infertility. Our understanding of the complex genetics and functional phenotypes of primary ciliary dyskinesia has rapidly grown, and over 35 disease-associated genes have been identified, which segregate into genes that encode axonemal motor proteins, regulatory proteins within the cilium, and cytoplasmic proteins involved in ciliary assembly. These findings have yielded unexpected insights into the clinical heterogeneity of disease and are beginning to revolutionize diagnostic testing for primary ciliary dyskinesia. Read More

Am J Respir Crit Care Med 2017 07;196(1):9-10

2 Department of Pediatrics University of North Carolina Chapel Hill, North Carolina.