1. SECTIONS:
2. preface & acknowledgements
3. genetics at a glance
4. contacts, support & testing
5. testing & pregnancy
6. newborn screening
7. cancer in the family
8. cardiovascular conditions
9. chromosomal conditions
10. clotting & bleeding conditions
11. cystic fibrosis
12. diabetes
13. fragile X syndrome and other causes of developmental delay
14. haemoglobinopathies
15. hereditary haemochromatosis
16. neurofibromatosis
17. neurological conditions
18. psychiatric conditions
19. genetics in practice
20. emerging genetic technologies
21. glossary

Management

 

Respiratory symptoms

1. Management focuses on assisting mucus clearance and treatment of chest infections.
2. Daily chest physiotherapy is usually performed.
3. Under-treated bacterial infection is responsible for destruction of the airways in CF patients. Antibiotics are usually started early and continued until symptoms improve. Prolonged therapy might be required in some patients. Sputum culture is important in guiding antibiotic therapy.
4. There is a low threshold for the use of antibiotics during common viral infections, during which bacteria may colonise the lower airway. In young children, Staphylococcus aureus and Haemophilus influenzae are common infecting organisms. Pseudomonas aeruginosa becomes the predominant organism with time.
5. Lung transplantation is currently the only available, efficient treatment for life-threatening CF, and can improve quality of life and long-term survival.
6. The major selection criterion for lung transplantation is a life expectancy predicted to be 50% or less at 2 years. This can be indicated by increasing decline in respiratory function, quality of life, weight, and more frequent need for IV therapy.
7. The outlook for patients receiving lung transplants within Australia has improved significantly since the first transplant in 1986. Regardless of the form of transplant (single lung, double lung, or heart and double lung), the majority of patients (~90%) will live at least a year or more following their transplant and 80% live 4 or more years. Quality of life measured by ability to exercise and attend educational courses is significantly improved.
8. GPs have a role in supporting patients and their families as they deal with these issues.

 

Growth, nutrition and bone mass

1. Most patients with CF have pancreatic exocrine insufficiency that presents with steatorrhoea and failure to thrive. In these patients, pancreatic enzyme replacement is necessary prior to all meals and snacks.
2. In addition, patients with CF have an increased basal metabolic rate requiring 120 to 150% of the recommended daily calorie intake. This requirement increases if there are additional persistent lung infections. A diet high in fat and protein is required.
3. Feeding gastrostomy may be beneficial to supplement feeds, if growth is seriously compromised according to standard growth charts. Body image is a significant issue for people with CF.
4. Most patients require fat-soluble vitamin supplements (principally vitamins A and E, and some will require vitamin D). Serum levels should be measured annually.
5. A DEXA scan should be performed during puberty to determine bone mineral density.
6. Salt replacement is necessary during periods when there is a risk of salt depletion.

 

Fertility

1. Men with CF virtually always have congenital bilateral absence of the vas deferens (CBAVD) and require assisted conception to have children (sperm can be aspirated from the epididymis).
2. Fertility in women is linked to nutritional status and its role in ovulation, and the potential for abnormal cervical mucus.
3. Lung function may deteriorate during and after pregnancy, probably because of the physical demands of child rearing and reduced time for the patient’s own care.
4. Respiratory failure may occur in women with CF and low lung function.
5. Adolescents with CF may benefit from referral to a local Adolescent Health Service to answer concerns about reproductive and sexual health issues.

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