Changing diagnostic methods for primary ciliary dyskinesia

Changing diagnostic methods for primary ciliary dyskinesia

Researchers from the University of Southampton have recommended a new method for diagnosing primary ciliary dyskinesia in young children.

Primary ciliary dyskinesia is a rare hereditary condition that can cause chronic ear, sinus, and lung infections in children. The condition leads to a build-up of mucus, which can cause inflammation of the airways. Most people with the condition are diagnosed from birth or early childhood; however, some children are not diagnosed until much later.

Around 75% of children with the condition have difficulty breathing after birth. Newborn babies may need oxygen treatment for days or weeks after birth; however, most babies will recover quickly. The symptoms of the condition caused by the infection and inflammation include a constant blocked or runny nose, a wet cough, shortness of breath and swelling of the fingers.

Diagnosing primary ciliary dyskinesia in young patients is difficult

Primary ciliary dyskinesia is currently diagnosed via a diagnostic test which measures nitric oxide (nNO) in the nose using a chemiluminescent analyser. Diagnostic tests require patients to breathe into a sampling tube at the nostril. The patient must hold their breath and then breathe through their mouth, measuring the resistance.

However, getting young children to control their breathing this way can be challenging. As well as this, chemiluminescence analysers are very expensive and difficult to export to most countries.

Jane Lucas, Professor of Paediatric Respiratory Medicine at the University of Southampton, led an international team of researchers who looked to find more accessible ways of diagnosing primary ciliary dyskinesia in young children.

The team found that adequate measurements of nasal nitric oxide could be taken while a young child breathes normally. The researchers recommended that this method is used as the standard way of diagnosing the condition in children under the age of five.

Electrochemical diagnostics devices are also useful

The team also found while chemiluminescence analysers are more highly reliable, inexpensive electrochemical devices could be used to diagnose the condition instead. According to the researchers, the portability of the electrochemical devices makes them a valuable tool in countries where patients live far from a specialist centre. They also recognised that the portability of electrochemical devices makes them useful in countries where patients live long distances from a specialist centre.

“We know that the earlier we can diagnose a condition, the better the chances are of implementing the best treatment plan for the patient. But current guidelines and technical standards focus on nNO measurements in older, cooperative children using technology that is not widely available,” said Professor Lucas.

“Pre-schoolers often need different methods to be employed when measuring nNO, which are less invasive and adaptable. Without guidelines for younger children and electrochemical analysers, there is huge variability in how people take the measurements and interpret them,” she continued.

The team also stressed that more research is needed to ensure that technical standards surrounding the condition’s diagnoses are updated. The findings of the study, titled ‘Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard‘, have received support from parents and charities.

“We support the recommendations outlined by the European Respiratory Society Task Force, as the use of nNO in preschool children will help to facilitate an earlier diagnosis for many with primary ciliary dyskinesia. As primary ciliary dyskinesia is a multi-system disorder requiring multi-disciplinary care (including respiratory management, Ear, Nose and Throat (ENT), cardiology, dietetics, and fertility input), earlier diagnosis will ensure primary ciliary dyskinesia patients get timely access to appropriate care. This is vital for preventing irreversible airway damage and poor quality of life,” said a spokesperson for the charity Primary Ciliary Dyskinesia Support UK.

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