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Kartagener syndrome

Primary ciliary dyskinesia (PCD), also known as immotile ciliary syndrome, is a rare autosomal recessive genetic disorder caused by a defect in the action of cilia lining the respiratory tract. Specifically, it is a defect in dynein protein arms within the ciliary structure. When accompanied by the triad of situs inversus, chronic sinusitis, and bronchiectasis, it is known as Kartagener syndrome. more...

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The dysfunction of the cilia begins during the embryologic phase of development. Since the cilia aid in the movement of growth factors resulting in the normal rotation of the internal organs during early embryological development, 50% of these individuals will develop situs inversus or dextrocardia.

The result is impaired ciliary function, reduced or absent mucus clearance, and susceptibility to chronic, recurrent respiratory infections, including sinusitis, bronchitis, pneumonia, and otitis media. The disease typically affects children up to 18 years of age, but the defect associated with it has a variable clinical impact on disease progression in adults as well. Many patients experience hearing loss, and infertility is common. Clinical progression of the disease is variable with lung transplantation required in severe cases. For most patients, aggressive measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial superinfections are recommended. Although the true incidence of the disease is unknown, it is estimated to be 1 in 32,000 or higher.

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Diary from a week in practice - Calendar
From American Family Physician, 2/15/04 by Kathy Soch

Monday

"I am so glad I had a chance to talk with you," exclaimed the young woman. "I was frightened when I saw her this morning--I thought she looked awful attached to all of those machines." KS had just seen this woman's mother in the intensive care unit. The 68-year-old woman had undergone a thoracotomy the day before for drainage of a loculated lung abscess. She was doing remarkably well, and despite the endotracheal tube was able to answer yes and no questions. The patient looked so good that KS had been surprised at her daughter's concern. She paused for a moment to picture the woman through her daughter's eyes--intubated, sedated, chest tubes, monitors, central and peripheral lines. She glanced at the bed and saw one nurse hanging antibiotics, while another emptied the chest tube. There were monitors beeping intermittently, yet the patient lay utterly still. "Your mother is doing very well," she assured her. "I have always told her that she is tough, and that will help her make it through this."

Tuesday

"The next patient is a 46-year-old man with primary ciliary dyskinesia and Kartagener's syndrome," announced TL, the second-year resident on the family medicine inpatient service. KS looked up in surprise. The service was busy this time of year, mostly with the usual exacerbations of chronic obstructive pulmonary disease, and patients with various complications of poorly controlled diabetes. All of a sudden, the resident was describing a syndrome she had never seen. He went on to explain that Kartagener's syndrome is associated with situs inversus. The patient's organs all are reversed, which generally is of no clinical significance. But, defective cilia are significant. If the tiny, hair-like cilia in the lungs do not function properly, mucus gets trapped in the bronchi, resulting in bronchiectasis. Over the years, the patient had been hospitalized many times with bronchitis and pneumonia. "Let's look up the reading on his chest x-ray," suggested one of the medical students with a mischievous smile, "and see if the radiologist knows as much about Kartagener's syndrome as we do!"

Wednesday

KS felt that she had failed this 16-year-old young woman, who had just discovered that she was pregnant. The teenager had been seen in the office twice during the previous year, each time for a mild upper respiratory infection. Both times she admitted to being sexually active. KS had counseled her about birth control methods, including condoms, which have the added benefit of preventing sexually transmitted diseases. On the previous visit, she had written a prescription for birth control pills, although the patient now admitted she had never filled it. At the time, her parents did not know that she was sexually active. KS had volunteered to talk to the girl's mother, but the young woman had refused. "Now my mother knows," she admitted ruefully. KS wondered sadly what more she could have done.

Thursday

No one wants to end their days in a nursing home. Yet, so many patients accept disability with quiet strength and dignity, KS thought as she wrote up a progress note. The woman she was visiting had countless medical problems. She had lived with her son, and she managed as long as she could. But, when she was finally unable to walk a few steps or even get out of bed, she decided it was time to move into a nursing home. KS asked her a few questions about her treatment and symptoms, although they both knew that not much more could be done. KS spent several pleasant minutes listening to her patient describe a wonderful marriage of 36 years, her love for her children and grandchildren, and the garden and plants that she enjoyed so much. Having managed a local restaurant for more than 30 years, the woman remembered many of the regular customers she had known over the years. "I was lucky to have a husband who would do anything for me, and I feel the same way about my son," she said. "Now I am old and sick, and I am not much good to anybody." "You did me a lot of good," retorted KS, "This conversation has been the best part of my day."

Friday

"I ache all over. I haven't slept in weeks. I can't even make my bed without feeling completely exhausted. What am I going to do?" exclaimed the 34-year-old woman as she broke into tears. At first, KS was at a loss as well. She had tried so many things to help this young woman who had fibromyalgia. Sometimes, the best way a physician can help a patient with a miserable chronic condition is to focus closely on each day's complaint. Today, her patient specifically mentioned pain, fatigue, and insomnia. During the past few years, KS had treated the pain with various nonsteroidal anti-inflammatory drugs, muscle relaxants, and physical therapy. Sometimes antidepressants and exercise programs seemed to help the fatigue. But, like many patients with fibromyalgia, none of these treatments helped the patient long-term. After closer questioning, KS was convinced that the insomnia was the most miserable issue at this visit. She prescribed a mild hypnotic agent and arranged for follow-up in a few weeks. As always, the patient was most thankful for anything that might help her difficult condition.

Saturday/Sunday

"Every time I pick up the paper, I find something else I need to do to protect my health," complained the 70-year-old woman. She half jokingly went on to describe her day, which began every morning with 10 minutes of stretching, followed by a brisk three-mile walk. During breakfast (whole-grain cereal, fruit, milk, and decaffeinated coffee) she wards off Alzheimer's disease by doing the daily crossword puzzle. "Most days I am at a volunteer job by 9 a.m., which helps prevent depression. I bring a healthful sack lunch, so I can get to my yoga class on time." Every day, she takes a baby aspirin, takes calcium to prevent osteoporosis, and makes sure to eat five or more fruits and vegetables. She checks her blood pressure at the grocery store once a month, and she has had a normal bone density test, mammogram, and colonoscopy within the past year. KS could only think of one suggestion, "You are doing such a great job taking care of your health. Maybe you should quit reading the paper!"

Kathy Soch, M.D., is a clinical instructor with the Corpus Christi Family Residency Program, affiliated with the University of Texas Health Science Center in San Antonio. This community-based program, which employs nine full-time faculty and 36 residents, primarily serves low-income, uninsured patients.

Address correspondence to Kathy Soch, M.D., 2606 Hospital Blvd., Corpus Christi, TX 78405. In order to preserve patient confidentiality, the patients' names and identifying characteristics have been changed in each scenario.

COPYRIGHT 2004 American Academy of Family Physicians
COPYRIGHT 2004 Gale Group

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