x
  • Supporting patients and families living with Cystic Fibrosis, through public awareness, skilled medical professionals, clinics and funding events.

  • Supporting patients and families living with Cystic Fibrosis, through public awareness, skilled medical professionals, clinics and funding events.

What is CF

Cystic Fibrosis (CF) is a common inherited disease that occurs in all South African population groups. A child born with CF has inherited one faulty Cystic Fibrosis gene from each parent. This mode of inheritance makes CF an autosomal recessive disease. People who only have one Cystic Fibrosis gene are called carriers of a CF gene and are unaffected. Approximately 1 in every 2 000 white babies, 1 in every 12 000 babies of mixed ancestry and 1 in every 32 000 black African babies in South Africa are born with Cystic Fibrosis (Research into the incidence of CF in the South African black population is still early and this incidence is expected to increase as more mutations specific to this population are found). There are more than 2000 different identified mutations worldwide that can cause Cystic Fibrosis. South African geneticists have identified and are still looking for more mutations specific to our diverse population.

Unlike many other countries, there is no newborn screening programme in South Africa for CF. Historically there has been a poor knowledge of Cystic Fibrosis amongst the South African medical profession resulting in patients frequently being misdiagnosed or being diagnosed late in life resulting in earlier death. It is possibly true that almost all black African and Indian CF patients and many white and mixed ancestry Cystic Fibrosis patients in South African have been misdiagnosed because of a lack of awareness amongst the South African medical profession.

Cystic Fibrosis is a life threatening disease for which there is currently no cure. It predominantly affects the lungs & digestive system. The defective gene and the defective protein that it subsequently produces causes the body to produce unusually thick, sticky mucus that clogs the lungs and leads to lung infections that causes progressive lung damage. This thick sticky mucous also obstructs the pancreas and prevents enzymes produced in the pancreas from breaking down and absorbing food. Later damage to the pancreas may also leads to diabetes.

Patients take large amounts of oral, nebulised and intravenous medication on a daily basis. Chest physiotherapy twice a day, or more frequently, and regular exercise are also part of CF care. A high calorie, high fat and high salt diet is essential, as is the management of diabetes. Most patients take enzymes with all their meals, fatty snacks and supplements to help them digest their food. Chest physiotherapy helps to clear the thick sticky secretions in CF lungs. These thick, sticky secretions are an ideal breading ground for viruses, bacteria and fungi that then damage the lung tissue. Supplemental feeding assists patients to get the calories that they needs to enable them to manage with the extra effort of breathing & fighting infection. This is sometimes done via a tube placed directly into the stomach (PEG) or via a nasogastric tube which patients insert themselves at night. Many patients depend on oxygen. We should not forget the psychological stress that this chronic illness places on patients, parents, siblings, partners and staff caring for CF patients.

Most patients with Cystic Fibrosis have a gradual deterioration in lung function & die from respiratory failure in young adulthood. In the 1950s, few children with cystic fibrosis lived to attend primary school. Today, many people with the disease can now expect to live into adulthood. Average life expectancy today worldwide is approaching 40 years. Just under half of the Cystic Fibrosis population is now an adult population.

The reasons for this improved life expectancy are predominantly due to the setting up of multidisciplinary Cystic Fibrosis clinics, the development of enzyme supplementation with feeds, advances in antibiotics and antibiotic delivery and research funded by non-profit international organisations like the South African Cystic Fibrosis Trust. A few patients are fortunate enough to qualify for lung transplantation at the “end of life”, however, in South Africa this opportunity is only available to patients on comprehensive medical aids.

Symptoms of Cystic Fibrosis

People with CF can have a variety of symptoms, including:

  • Very salty-tasting skin
  • Recurrent lung infections
  • Frequent, oily, bulky stools
  • Poor growth or weight gain in spite of a good appetite

NOTE
The 3120+1GA mutation, common in our South African black population, seems to infer severity. Any black African child presenting with malnutrition (kwashiorkor / marasmus type picture) who is breastfeeding adequately or receiving correctly mixed and adequate amounts of formula feeds should have the diagnosis considered.

Doctors should consider the diagnosis of CF in any newborn with bowel obstruction (meconium ileus) or a perforated bowel or any patient of any age with:

  • Distal ileal obstructionin
  • Nasal polyps
  • Bronchiectasis of unknown aetiology, particularly predominantly upper lobe bronchiectasis
  • Growth of Pseudomonas aeruginosa in sputum without a god explanation e.g. ICU patients

Testing for Cystic Fibrosis

Sweat Test

If a person exhibits symptoms of Cystic Fibrosis or a newborn has a positive screening test, a doctor may request a sweat test. This simple, inexpensive and painless test is the best way to diagnose CF. It measures the amount of chloride in a person’s sweat and a high chloride level is indicative of CF. The sweat test should be performed by trained technicians, and evaluated in an experienced, reliable laboratory.

For people with CF, the sweat chloride test will be positive shortly after birth. The sweat test can be done on people of any age; however, newborns may not make enough sweat to measure chloride levels. For this reason the test is usually delayed until 4-6 weeks of age in full term infants.

There is no fasting or special diet needed before the sweat test but creams or lotions should not be applied to the skin for 24 hours before the test. All regular medications may be continued, as they will have no effect on the test results. Babies should be fed their usual amount and at their usual times.

A small percentage of Cystic Fibrosis patients will have negative or borderline sweat tests.

Sweat test result interpretation
in infants ≤ 6 months

Cl ≤ 29

Cl = 30-59

Cl ≥ 60

CF unlikely

CF possible

CF likely

Sweat test result interpretation
in patients > 6 months

Cl ≤ 39

Cl = 40-59

Cl ≥ 60

CF unlikely

CF possible

CF likely

Faecal Elastase

This is a stool test. A very low faecal elastase indicates that the pancreas is not producing enough enzymes to digest food. Numerous conditions can cause this but Cystic Fibrosis should be included in the differential diagnosis. 15% of Cystic Fibrosis patients are pancreatic sufficient with a normal faecal elastase result.

Genetic Testing

There are well over 2000 different identified mutations that cause the clinical picture that we see as Cystic Fibrosis. New mutations are still being identified. As it is expensive and time consuming to test for every mutation, each country currently tests for the mutations most common to its particular population group. The South African population is diverse and we therefore need to do different tests on different population groups. Currently South African Caucasian patients are tested for about 30 mutations most common to this population group. If this test identifies 2 mutations, then the diagnosis of Cystic Fibrosis is confirmed. Black African patients are tested for the most common Cystic Fibrosis causing mutation, Delta F508, and the mutation currently found to be most common to the South Africa black population called the 3120+1 G→A mutation. We anticipate that there are other mutations specific to our South African black population and research into identification of these mutations is ongoing. Little is known about Cystic Fibrosis mutations specific to the South Africa’s Indian population and patients of mixed ancestry are tested for the 30 mutations common to the South Africa Caucasian population which includes the 3120+1 G→A mutation. Patients of Jewish decent are tested in South Africa for 29 CF-causing mutations, which account for 95% of mutations in the Ashkenazi Jewish population. Some laboratories only offer testing for the for the most common Delta F508 mutation which will obviously miss the diagnosis of CF in many patients. Full gene sequencing is a more expensive test that will in theory detect any described or as yet undescribed mutation, confirming or excluding the diagmsis of CF absolutely. It is essential that when the diagnosis of CF is being considered, that a genetic counselor is involved in this process to communicate these intricacies to the families and doctors involved. Many doctors do not realise that identification of only a single mutation or of no mutation at all does not necessarily rule out the diagnosis of CF, especially in a patient with a positive sweat test and or with a very low faecal elastase result. Ideally, patients should know which mutations they have, as many of the new pipeline drugs are mutation specific.

Newborn Screening

Newborn screening is not routinely available in South Africa. Some private paediatricians and laboratories offer newborn screening for Cystic Fibrosis, amongst other screening tests, but unfortunately parents are rarely counseled or informed as to what their babies are being tested for and what a positive or negative result implies.

Newborns screened for Cystic Fibrosis can benefit from earlier diagnosis and treatment. Studies have shown that the earlier the diagnosis of Cystic Fibrosis is made, the better the patients growth, lung function and life expectancy.

Newborn screening is not a definitive diagnostic test for Cystic Fibrosis. A positive test may lead to further tests that will either rule out or confirm the diagnosis of CF. A negative screening test does not rule out the diagnosis of CF. South African CF specialists are also unsure about normal value for this test in our racially diverse population. Screening of all newborns for Cystic Fibrosis in many other countries is however recommended.

Current and Future Treatments for Cystic Fibrosis

Multi-disciplinary Cystic Fibrosis clinics

Medication

Treatment of Cystic Fibrosis related lung disease

  • Antibiotics
    • Oral
    • Intravenous
    • Inhaled – TOBI, Colistin, Cayston (aztreonam), iv formulation tobramycin, gentamicin and amikacin
  • Alteration of mucous viscosity and airway hydration
    • DNA’se (Pulmozyme)
    • Hypertonic saline
  • Immune modulators
    • Azithromycin
    • Ibuprofen

Treatment of Cystic Fibrosis related diabetes

Treatment of Cystic Fibrosis related liver disease

Treatment of Cystic Fibrosis related bone disease

Diet

Supplements Diagnosis and management of diabetes

Physiotherapy and Physiotherapy Devices

Coming soon

Exercise

Coming soon

Psychology

Coming soon

Transplantation and Cystic Fibrosis

Coming soon

Implantable Devices

Coming soon

Drug Development Pipeline

Coming soon

Gene Therapy

Coming soon

Non Profit Organisations and Cystic Fibrosis

Thanks to other organisations like the South African Cystic Fibrosis Trust, there has been a significant recent surge in research into medications that may correct the abnormality caused by the faulty Cystic Fibrosis gene. The American Cystic Fibrosis Foundation and the UK Cystic Fibrosis Trust have raised enormous quantities of money to fund research into what are called pipeline drugs as well as for gene therapy. An enormous amount still needs to be done in South Africa if we are to provide the very basic of Cystic Fibrosis services. Cystic Fibrosis receives little publicity in South Africa and as a result, it is a very lonely condition, both for the patient and family. Support structures are few. It is rare for anyone outside the immediate family to understand what is happening. The South African Cystic Fibrosis Trust, a new non-profit organisation is challenged with changing this.

Cystic Fibrosis patents are exceptional, determined, intelligent & uncomplaining despite the large burden placed on them and their families because of their disease. Many have achieved beyond all expectations, living life passionately from a young age.

Click here to know about Personal Stories