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Newborns With Respiratory Distress Potentially Have Rare Genetic Disease

Newborns with respiratory distress should be evaluated for primary ciliary dyskinesia, a rare genetic disease that has features similar// to cystic fibrosis.

According to Thomas Ferkol, M.D., Washington University School of Medicine in St. Louis, reports that about 80 percent of patients with primary ciliary dyskinesia (PCD) have a history of newborn respiratory distress.

"The diagnosis of PCD requires a high index of suspicion, but PCD must be considered in any term newborn who develops respiratory distress or persistent hypoxemia (low oxygen in the blood), especially those who have reversed internal organs or an affected sibling," says Ferkol, director of the Division of Pediatric Allergy and Pulmonary Medicine at Washington University School of Medicine and St. Louis Children's Hospital.

Reviewing published reports, Ferkol and Margaret Leigh, M.D., professor of pediatrics at the University of North Carolina at Chapel Hill (UNC), found that neonatal respiratory distress was a common clinical symptom of PCD, a chronic airway disease that affects about 1 in 15,000 children. Their findings appeared in the December issue of Seminars in Perinatology.

Also known as immotile cilia syndrome, ciliary aplasia or Kartagener Syndrome, PCD causes persistent wheezing and cough in children and is associated with recurrent or persistent sinus and ear infections. Half of patients with PCD have reversed internal organs, called situs inversus, and males are usually infertile.

In PCD patients, the cilia, tiny hairs that move mucus, bacteria and particulates out of the respiratory tract, including the lungs, middle ear and paranasal sinuses, have abnormal or no motion. As a result, the airways become obstructed and infected, which incites a destructive inflammatory process in those organs. Cilia are also present in the female reproductive system, central nervous system and gut.

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