Dilatations des bronches révélant une mucoviscidose chez un adulte

La dilatation des bronches est une maladie d'étiologies diverses. La mucoviscidose est l'une des causes de cette pathologie. Cette cause congénitale est la plus fréquente en occident mais rare dans la population non caucasienne. Observation : Nous rapportons l'observation d'une patiente âgée de 25 ans, célibataire, diabétique type 1, bronchorrhéique chronique depuis 8ans, hospitalisée pour bilan étiologique de dilatation des bronches diffuses avec un hippocratisme digital. L'indice de masse corporelle était à 11,53kg/m2. Le test de la sueur était positif à deux reprises (86 mmol/l, 94 mmol/l). La tomodensitométrie du thorax objectivait l'image de dilatation des bronches prédominantes aux lobes supérieures. La tomodensitométrie des sinus montrait une sinusite maxillaire. La patiente était mise sous bi-antibiothérapie, sous oxygénothérapie et une ventilation non invasive. L'évolution était favorable.Conclusion: A travers cette observation, le diagnostic de la mucoviscidose n'est pas aisé dans la population non caucasienne. Malgré l'âge des patients, il faut y penser à la mucoviscidose comme étiologie de dilatation des bronches

Uptake of Genetic Counselling Services by Patients with Cystic Fibrosis and Their Families

Background: Although cystic fibrosis (CF) is a common genetic condition; genetic counselling services appear to be underutilised by affected families. The aim of this study was to determine the uptake of genetic counselling and mutation testing for CF by relatives of affected individuals; and the impact of introducing hospital-based genetic counselling services.Method: The files of 153 families seen for genetic counselling for CF by staff of the Division of Human Genetics; School of Pathology; University of the Witwatersrand; and the National Health Laboratory Service (NHLS) in Johannesburg; were retrospectively reviewed from 1990 to 2006; the year when hospital-based genetic counselling services were introduced.Results: Parents of CF probands were the largest single group (35) of counsellees. Most individuals (66) attended genetic counselling to gather information. Most had been referred by medical specialists (56). Only 10 of referrals originated from general practitioners. On average; from 1990-2005; six families received genetic counselling annually; whereas in 2006; 58 families were seen. In 140 unrelated families; 1 991 relatives with carrier risks of ? 25 were identified. Only 11of these relatives underwent mutation testing; and eight per cent received genetic counselling through our division over the review period.Conclusion: Overall; referrals of family members (of affected CF individuals) to genetic counselling; by general practitioners; are poor. Uptake of genetic counselling services is greater when such services are integrated into hospital-based CF management clinics; than when offered elsewhere. The low uptake of mutation testing and genetic counselling by at-risk relatives is a concern; since these relatives are at high risk of having affected children; if their partners are CF carriers. Education of affected individuals; their close relatives; and medical practitioners; should be prioritised. This will ensure referral to genetic counselling for discussion about the risks of and available testing for CF; and other genetic conditions

Rate of Pulmonary Function Decline in South African Children with Cystic Fibrosis

Background. Pulmonary function tests (PFTs) objectively measure the extent and progression of cystic fibrosis (CF) lung disease. The rate of lung function decline in developing countries has not previously been studied. Aim. To investigate the average annual rates of pulmonary function decline in South African children with CF from 1999 to 2006. Methodology: The medical records and best PFT over 3-monthly intervals of children attending the CF clinic at Red Cross War Memorial Children's Hospital; Cape Town; were retrospectively reviewed and analysed using the mixed model regression method. Results. A total of 1 139 PFT were recorded on 79 patients; with a median (interquartile range) of 14 (6 - 21) PFTs per patient. The mean (standard error) forced expiratory volume in 1 second (FEV1) at age 6 years was estimated at 73.83 (3.34) per cent predicted with an FEV1 decline of 0.23 (0.43)per annum. FEV1 at age 6 was affected by age at CF diagnosis; genotype; and year of birth. Rate of FEV1 decline was significantly affected by Pseudomonas aeruginosa colonisation and genotype. Conclusions. Although FEV1 at age 6 years was low compared with developed countries; the annual rate of FEV1 decline in South African children with CF was minimal; setting the scene for improved survival in this population

The Epidemiology of Cystic Fibrosis in the Western Cape Province

Objectives. To determine the incidence and prevalence of cystic fibrosis (CF) among populations of the Western Cape province of South Africa. Design and subjects. Descrip- tive study using data from a database of CF cases and the 1996 Census. Measures. CF births from 1987 to 1996 and known CF patients in 1996 were compared with Census birth data and population data; respectively. Results. The very small numbers of black African CF patients precluded estimating the epidemiology in this group. The incidences of CF for coloured and white patients were 1 in 9 845 and 1 in 2 853 live births; respectively. There was underascertainment of cases in non-metropolitan areas. The prevalence of CF per 100 000 of the population was 2.6 and 11 for the coloured and white populations; respectively. The estimated number of persons with CF in these two groups in South Africa in 2001 was 571. Conclusions. CF was more common in the coloured population and less common in the white population than previouslyestimated. Under-diagnosis occurred in non-metropolitan areas in both groups