Primary Ciliary Dyskinesia in Children: Signs, Diagnosis and Care

Primary ciliary dyskinesia is not rare enough to justify how often it is missed. The typical child has had a wet cough since infancy, repeated ear infections, a permanently blocked nose, and a file full of antibiotic courses — each symptom explained away individually. Seen together, the pattern is recognisable, and recognising it early changes the trajectory of the lungs.

What the cilia do, and what goes wrong

The airways, sinuses and middle ear are lined with cilia: microscopic hair-like structures that beat in coordinated waves to sweep mucus, bacteria and debris upwards and out. This mucociliary clearance is the lung's primary self-cleaning mechanism.

In primary ciliary dyskinesia the cilia are structurally or functionally abnormal from birth. They may beat in the wrong pattern, too slowly, or not at all. Mucus stagnates, bacteria are not cleared, and the airways are subjected to repeated and eventually chronic infection. It is inherited, usually in an autosomal recessive pattern, so both parents are carriers — which is why consanguinity raises the likelihood and why it is more frequently encountered in populations where it is common.

Signs, by age

Newborn period

This is the clue that is most often missed in retrospect. Around three quarters of babies with PCD have unexplained breathing difficulty in the newborn period despite being born at term, often needing oxygen or admission to a neonatal unit, with no clear cause found. A term baby who needed oxygen for days without explanation deserves this on the list.

Infancy and early childhood

• A daily wet cough starting in the first months of life — not beginning with nursery, but present from the start
• A constantly blocked or running nose, year round, from infancy
• Persistent glue ear with hearing loss, often leading to repeated grommet insertion; discharge after grommets is characteristic
• Situs inversus — organs mirrored, which occurs in roughly half of children with PCD. Kartagener syndrome is the combination of situs inversus, chronic sinusitis and bronchiectasis. Important: normal organ arrangement does not exclude PCD, and this is a frequent source of false reassurance
• Other laterality abnormalities, including some congenital heart disease

Later childhood and adolescence

• Chronic wet cough and recurrent chest infections
• Developing bronchiectasis, often before symptoms seem to justify it
• Chronic sinusitis and nasal polyps
• Persistent hearing difficulty
• Reduced fertility in later life, related to sperm motility and to cilia in the fallopian tubes

Who should be tested

Testing is warranted where several of these coexist, particularly:

• Unexplained neonatal respiratory distress in a term baby, plus any of the below
• A daily wet cough from early infancy
• Year-round nasal congestion from infancy
• Persistent glue ear, especially with discharge after grommets
• Situs inversus or any laterality defect
• Unexplained bronchiectasis
• An affected sibling, or parental consanguinity with a suggestive picture

Structured scoring tools exist to help decide who to refer, but in practice the combination of a wet cough from infancy with year-round rhinitis and ear disease should prompt the question.

How the diagnosis is made

There is no single test. Current ERS and ATS guidance uses a combination, interpreted alongside the clinical picture:

• Nasal nitric oxide — characteristically very low in PCD. A useful screening test from about five years of age, though low values also occur in other conditions, so it is not diagnostic alone
• High-speed video microscopy — a brushing of the nasal lining examined to assess how the cilia actually beat
• Transmission electron microscopy — looking at ciliary ultrastructure. Normal in a proportion of genetically confirmed cases, so a normal result does not exclude the diagnosis
• Genetic testing — increasingly central, with a large and growing number of implicated genes
• Immunofluorescence — used in some centres as an adjunct

Testing is best done when the child is free of acute infection, since infection can temporarily disturb ciliary function and produce misleading results.

What treatment involves

There is no cure for the ciliary defect. Care is about protecting lung function, and it is effective when started early.

• Daily airway clearance physiotherapy — the cornerstone. Since the cilia cannot clear mucus, it has to be cleared mechanically, every day, indefinitely
• Prompt and adequate antibiotic treatment of exacerbations, guided by airway cultures rather than guesswork
• Regular airway sampling to track which organisms are present, sometimes requiring bronchoscopy
• Long-term prophylactic antibiotics in selected children
• Monitoring lung function and periodic imaging to detect bronchiectasis early
• ENT and audiology input for the ear and sinus disease, with hearing support where needed
• Full immunisation, including annual influenza vaccination
• Exercise, which genuinely aids clearance

Care is multidisciplinary by necessity: respiratory, physiotherapy, ENT, audiology and genetics. The evidence base is smaller than for cystic fibrosis, and much practice is extrapolated from it, which is an honest limitation worth stating.

What the outlook is

With early diagnosis and consistent airway clearance, most children with PCD maintain good lung function and lead full lives. The children who do badly are largely those diagnosed late, after years of undertreated infection has already produced established bronchiectasis. That is the argument for asking the question early rather than waiting for the picture to declare itself.

A note for families in the UAE and wider region

PCD is inherited in an autosomal recessive pattern, so it is encountered more often where consanguineous marriage is common, as it is in parts of the Gulf and the wider region. Any recessive condition concentrates in families where both parents share ancestry. Combined with a mobile population where newborn and childhood records are often incomplete or held in another country, this makes an actively considered diagnosis more important here, not less. If a sibling has been diagnosed, other children in the family should be assessed even when their symptoms seem milder.

About Dr Omi Narayan

Consultant Pediatric Pulmonologist and Sleep Physician based in Dubai. Trained for 16 years in the UK's NHS, including as Consultant at Royal Manchester Children's Hospital. Dual UK board certification (CCT) in Pediatrics and Pediatric Pulmonology. 57 peer-reviewed publications.

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