Includes bibliographical references (leaves 284-314). / Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations on chromosome 7 in the gene for the CFTR protein. This gene encodes for a chloride channel on the apical surface of certain epithelial cells. The clinical manifestations of CF largely arise out of the resultant defect in water and electrolyte secretions in exocrine glands and epithelia such as are found in the pancreas, respiratory, gastrointestinal and genital tracts and sweat glands. First delineated as a clinical entity in the mid-20th century, CF was shown to be identifiable through the demonstration of elevated electrolyte levels in sweat - the sweat test. After many false starts, the underlying genetic defect was identified in the 1980s, culminating in the identification of the defective gene in 1989. This opened up possibilities of more accurate diagnosis and targeted treatments. Treatment of CF with pancreatic enzyme replacement therapy and antibiotics in the 1950s proved successful in controlling some of the severe and often fatal aspects of the disease. Further refinements to nutritional and antimicrobial therapies in the 1970s and 1980s produced rapid increases in longevity in many patients with CF. In SA, CF' has been identified since the 1950s. Clinical and research activities developed in the 1980s, mainly focused on the epidemiological and genetic aspects. Two clinical studies described features in children in Cape Town and adults in Johannesburg. My own clinical involvement in the RCCH's CF Service in Cape Town since 1992 led to the research activities that make up the bulk of this thesis. The thesis describes a number of aspects of CF as it affects patients in SA. The study population (described in Chapter 2) for most of the projects consists of 181 CF patients born between October 1974 and September 2003 who were identified by a combination of clinical features, positive sweat or genetic tests and/or post-mortem findings. All were resident in the Western Cape Province and received at least part of their health care at the RCCH. One hundred and sixty (88%) were born in the province and 21 settled in the province from elsewhere. Cape Town is unique in SA for its population demographics and the CF patients reflect this. CF has mainly been identified in coloured and white patients. Four black cases have been diagnosed. Compared with the CF population as described in the early 1980s, the CF population in the 21st century is larger (100 versus 64), older and there is a greater proportion of coloured patients. Nearly 3 in every 4 patients live in Cape Town.
| Identifer | oai:union.ndltd.org:netd.ac.za/oai:union.ndltd.org:uct/oai:localhost:11427/10745 |
| Date | January 2005 |
| Creators | Westwood, Anthony Thomas Read |
| Publisher | University of Cape Town, Faculty of Health Sciences, Department of Paediatrics and Child Health |
| Source Sets | South African National ETD Portal |
| Language | English |
| Detected Language | English |
| Type | Master Thesis, Masters, MD |
| Format | application/pdf |
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