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Newborns With Respiratory Distress Potentially Have Rare Genetic Disease

e is that many of the clinical symptoms are very similar to other more common conditions, such as asthma, allergy or cystic fibrosis," Ferkol says. "Physicians often fail to consider PCD, in part because we don't have a great diagnostic test for the disease."

Ferkol indicates that several clinical features of PCD mirror those found in the more-common cystic fibrosis, including chronic sinus and lung disease as well as male infertility. However, chronic ear disease and neonatal respiratory distress are relatively uncommon in cystic fibrosis and should prompt the caregiver to consider PCD.

"Once children with PCD are past the newborn period, the signs and symptoms that typically bring them to medical attention are chronic ear disease, hearing loss and a runny nose that persists despite seasonal changes or the use of antibiotics and antihistamines," Ferkol says. "But as patients age, the lung manifestations become more evident. Also, infertility becomes a greater issue in adulthood."

Because definitive testing is not always readily available, patients with PCD are often diagnosed late. In addition, treatment of PCD in the community is highly variable, largely because the necessary clinical studies have not been performed.

Ferkol, also associate professor of pediatrics and of cell biology and physiology and director of the Cystic Fibrosis Center at Washington University School of Medicine, is leading the Washington University research team that is part of a national consortium investigating the genetic causes of PCD. The Genetic Diseases of Mucociliary Clearance Consortium, based at UNC, is part of the National Institutes of Health Rare Diseases Clinical Research Network.

The consortium aims to improve diagnosis and treatment of PCD as well as to better define its origin and how it progresses.

"We want to identify as many PCD patients as we can to help us understand the genetics, pathophysiology and
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