What is CF?
CF is a genetic disease inherited in an autosomal recessive fashion. This means a child must inherit a CF gene from each of his or her parents to have the disease. A child can be a carrier of CF (have only 1 gene) and not be symptomatic in any way. CF is the most common genetic disease in Caucasians, but can affect all racial groups. The basic defect in CF is an abnormality in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). CFTR is a channel that controls the way salt and water move into and out of the body’s cells. With a decrease in salt and water transport, the body produces abnormally thick secretions. Depending on the organ type these thick secretions can cause a number of problems.
Signs and Symptoms of CF
There is a wide spectrum of illness in patients with CF. Depending on the degree of CFTR dysfunction a person may be diagnosed at birth with meconium ileus (an intestinal blockage due to abnormally thick stool), others have been asymptomatic in childhood and not diagnosed until adulthood due to chronic sinus problems or infertility. Common organ systems involved include:
Sweat GlandsExcessive salt is lost in the sweat glands of CF individuals. As a result, infants with CF often taste salty when kissed. Infants also require extra sodium in their feeds and may present with hyponatremia (low sodium) as the first manifestation of their illness. This excessive salt loss can also be a problem in older individuals during times of exercise and hot weather.
Respiratory System
The thick mucus produced in CF can obstruct the nasal sinuses and cause chronic sinusitis and nasal polyps. The lower part of the respiratory system (the lungs) can also be affected by chronic infection. This can lead to a chronic cough, recurrent bronchitis and recurrent pneumonia. Much of the care for the CF patient revolves around keeping the lungs healthy. Breathing treatments are given to hydrate and thin secretions. Devices and techniques are available to help with clearing secretions from the lungs. Additionally, aggressive use of antibiotics helps to keep infections under control.
Digestive System
The thick, sticky secretions produced in CF can obstruct the pancreas in CF. This condition is called pancreatic insufficiency. As the pancreas is damaged, there is a lack of pancreatic enzymes produced; this leads to the inability to digest food (specifically fat). The result is large, foul-smelling stools, poor absorption of nutrients and poor weight gain. The condition is treated by giving supplemental pancreatic enzymes with each meal. Additional fat-soluble vitamins are also given as these vitamins are typically poorly absorbed. Special care is taken by the CF team to ensure good nutrition as there is a clear correlation between good nutrition and lung health in the CF patient.
Reproductive System
Men and women with CF have normal external reproductive organs, however they have fertility problems. Men have a blockage in the vas deferens (the tube that carries sperm from the testicle to the penis) and 95% are infertile. Many men with CF have been able to become fathers, however, through the use of a procedure where sperm are harvested from the testicle and artificially inseminated in the female partner. Women with CF can have thick cervical mucus that blocks the cervix and does not allow the sperm to reach the egg for fertilization. Around 20% of women with CF are infertile. The ability of a woman with CF to have a healthy pregnancy depends are the severity of her disease and involves close collaboration with a qualified obstetrician.
Parental Involvement
CF is a chronic disease, and at this point there is no cure. However, with new drugs, therapeutic advances and research improving care, quality of life and life expectancy is improving rapidly. Parents are encouraged to work closely with the members of the care team to keep their children healthy. Smoking is obviously discouraged. Children and adults with CF should live active lifestyles and are encouraged to engage in outside activities such as exercise, sports, music and other social activities. For additional questions or concerns or to arrange a consultation, please contact the CF nurse.
The Cystic Fibrosis Care Center
The physicians at Austin Children’s Chest Associates are experts in the care of children with Cystic Fibrosis (CF). Patients with CF are cared for at the Central Texas Cystic Fibrosis Center in the Marni Paul Specialty Care Center at Dell Children’s Medical Center. Together with a multidisciplinary team, the physicians take care of >110 adult and pediatric patients. The center is continuing to grow and flourish. The CF program is fully accredited by the United States Cystic Fibrosis Foundation and is an affiliate center of the Baylor College of Medicine Cystic Fibrosis Center. Patients have access to Board Certified Pediatric Pulmonologists, a full time CF nurse, social worker, dietician and respiratory therapist. The center also works closely with child life specialists, adult and pediatric gastroenterology, ear nose and throat surgery, endocrinology, fertility specialists and obstetrics, physical therapy and pharmacists in the Central Texas area. Research has shown that patients cared for in a multidisciplinary center such as the Central Texas Cystic Fibrosis Center have better health-related outcomes. It is currently recommended by the Cystic Fibrosis Foundation that all patients with CF be cared for in an accredited center by a multidisciplinary team.
Contact Information
Address: Specialty Care Center
Dell Children’s Medical Center
4900 Mueller Blvd.
Austin, Tx 78723
Hours: Mon to Fri 8:30 am to 4:30 pm
Questions or to make an appointment: 512-324-0000 ext 86331
Website: www.dellchildrens.net
Medical Education and Research
The Central Texas Cystic Fibrosis Center has an active quality improvement program. Current projects are looking at improving outcomes in lung function, nutrition, patient satisfaction, depression and transition from pediatric to adult care. Patients will have access to clinical trials through the CF Foundation and the pharmaceutical industry as they arise, based on the prespecified inclusion criteria.
Outpatient Care
It is recommended that all patients with CF be seen in the care center every 3 months. Regular visits are important to monitor nutrition and lung function, obtain sputum cultures to evaluate changes in respiratory bacteria, and to provide any needed education and support. Additional visits can be made at the CF center or in the Austin Children’s Chest Associates offices if needed.
Inpatient Care
Children (<18 years old) needing hospitalization will be cared for at Dell Children’s Medical Center. Adults will be referred to Seton Medical Center. Admitting patients to the same area in each hospital allows for training of the nursing staff in CF-specific issues. Currently both adult and pediatric patients are cared for by Austin Children’s Chest Associates physicians; there is no separate adult program at this time.
Infection Control
Very strict infection control policies are maintained in inpatient and outpatient settings. More information on these protocols can be obtained from the CF team.
