He was only 2 years old, but the little boy had already experienced more than his share of ear and sinus infections and had even coughed and wheezed his way through several episodes of pneumonia. He had pressure equalization tubes placed in his eardrums, but the otolaryngologist felt that more needed to be done to help the child and investigate his severe upper and lower airway problems.
While preparing for a routine tonsillectomy and adenoidectomy, the ENT surgeon also planned to take a tissue sample from the boy's nasal passages. Surgery was successful, and the extra biopsy was sent off to the lab to find out if the patient's cilia, the tiny protective hairlike structures that line parts of the respiratory tract, were functioning normally.
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The pathologist's report showed the boy's cilia were lacking inner dynein arms, a structural abnormality that limits ciliary movement and prevents the effective removal of bacteria and mucous. The child's official diagnosis was primary ciliary dyskinesia, previously known as immotile cilia syndrome.
The surgeon made an important discovery, since the diagnosis of PCD went a long way toward explaining the little boy's symptoms and guiding his therapy. PCD is often lower on the list of possible respiratory diagnoses because it is a fairly uncommon medical condition. Experts at the National Institutes of Health estimate that only 12,000 to 17,000 Americans suffer from PCD.
PCD has a genetic link and is most often inherited as a recessive condition, with each parent carrying a copy of the abnormal gene in order to pass the condition to their child. NIH researchers explain that the diagnosis of PCD is based on a pattern of clinical findings along with the presence of an abnormal biopsy of the lining of the nasal passages or bronchial surfaces, or a positive result on molecular genetic testing.
Symptoms of PCD can include neonatal respiratory distress and nasal congestion, as well as chronic and persistent cough, wheeze, sputum production, sinusitis and ear infections. About half of patients with PCD also have situs inversus totalis, a mirror-image reversal of the internal organs that does not affect function or health. A smaller number have true abnormalities of the heart, liver, spleen or intestines. Half of males with PCD will experience infertility since the condition can affect sperm cell movement.
NIH specialists note that while there is currently no known "fix" for abnormal cilia, PCD patients can benefit from vigilant medical care. PCD treatment includes preventive measures such as immunizing patients against whooping cough, haemophilus, pneumococcal and influenza infections, as well as providing aggressive antibiotic therapy for bacterial ear, sinus and bronchial infections.
PCD patients can benefit from efforts aimed at encouraging cough and clearing of respiratory secretions through vigorous exercise and the use of oscillatory vests and chest physical therapy.
• Dr. Helen Minciotti is a mother of five and a pediatrician with a practice in Schaumburg. She formerly chaired the Department of Pediatrics at Northwest Community Hospital in Arlington Heights.