Medicine of the Future in America

Canadian Health and Care Mall: Mucociliary Clearance in a Patient with Kartagener’s Syndrome

Kartagener’s SyndromeThe immotile or dyskinetic cilia syndrome is a disorder of ciliary motility characterized by recurrent sinopulmonary infections, reduced fertility in women, and sterility in men. When situs inversus is encountered, the disorder is referred to as Kartagener’s syndrome. With rare exception, symptoms of the immotile-cilia syndrome can be attributed to an inability of cilia to move at all or to move in a properly oriented and organized fashion. Dynein is a microtubule-associated protein with high molecular weight and high ATPase activity in the presence of magnesium and calcium ions. The dynein arms occupy two rows along the A subfiber of the outer doublet microtubules. Individual arms are spaced at 24 nm within each row. The outer and inner dynein arms of cilia are believed to be the transducers of mechanical force necessary for ciliary motion. The exact relationship between the two dynein arms (inner and outer) and their role in ciliary motility is still unclear.

Outer arms are composed of three electrophoreti-cally distinct heavy chains (now designated a, 6 and 7) weighing 300 kilodaltons, as well as several intermediate and light chains. Each heavy chain has ATPase activity which is uniquely distinct from each other.

Inner arms have up to six distinct heavy chains and a complement of intermediate and light chains. Whereas previously considered to be functionally equal, it has been suggested that the inner dynein arms are the “prime movers” of cilia. This case study of a patient with Kartageners syndrome describes an association between the absence of the inner dynein arms alone and complete ciliary immotility as evidenced by a lack of mucociliary clearance.

Because of previously reported abnormal neutrophil chemotaxis in some cases of Kartageners syndrome, and the suggestion that both random migration of neutrophils and abnormal chemotaxis immunologic functionsin patients with Kartageners syndrome may have common structural and biochemical mechanisms, we also studied neutrophil chemotaxis and other immunologic functions in our patient. These were found to be normal, suggesting that neutrophil migration abnormalities may have a different mechanism which needs further elucidation.

Case Report

A 55-year-old white woman, known to have Kartageners syndrome, was admitted to Flushing Hospital and Medical Center for evaluation of dry barking cough of two months’ duration. At the age of two years, she was diagnosed as having dextrocardia. At age 14, she had one documented episode of sinusitis which was treated with nasal packing and a drainage procedure. At age 16, situs inversus was diagnosed. Kartagener’s syndrome is a rare hereditary disease provoked by a gene defect. Visit to Canadian Health Care – news online and you will find more interesting facts about medical science.

At ages 43 and 46, the patient had two episodes of pneumonia, but no x-ray documentation of the site of pneumonia was performed. There was a history of otitis media at age 52 that was treated with antibiotics. The patient did not smoke. There was no history suggestive of immunodeficiency or cystic fibrosis.

Family History

The patient had no difficulty conceiving. She had two children. One died of a cerebral hemorrhage; the other is perfectly healthy and has normal chest x-ray film findings and normal pulmonary function studies. The patients mother has a history of perennial cough and bronchiectasis which was diagnosed on the basis of bronchoscopy and pulmonary function studies.

Physical Examination

Her height was, weight 70 kg. The blood pressure was 105/96 mm Hg; pulse rate, 86/min and regular; temperature 37°C, and respiratory rate 20/min. There was no evidence of clubbing. Examination of the nasopharynx revealed edematous nasal turbinates. Heart examination revealed the apical impulse in the right chest. There was a single second heart sound. Result of lung examination was normal.

Chest x-ray examination showed dextrocardia and the gastric air bubble in the right upper quadrant of the abdomen. The lung fields were dear (Fig 1). An echocardiogram revealed situs inversus of the heart and normal valvular structures. Flexible fiberoptic bronchoscopy revealed mirror image rotation (complete situs inversus of the bronchial tree) and generalized bronchiectasis. Cultures of bronchial washings were negative for bacterial growth. Hie patient was started on oral doxycycline hyclate 100 mg twice a day. Her cough subsided two weeks later.

Figure 1. PA and lateral radiographs of the chest. Note dextrocardia and the gastric air bubble in the right upper quadrant The lung fields are clear.

Figure 1. PA and lateral radiographs of the chest. Note dextrocardia and the gastric air bubble in the right upper quadrant The lung fields are clear.

This entry was posted in Kartagener’s Syndrome and tagged genetic defect, immunologic functions, Kartagener’s Syndrome, pulmonary function.
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