First study of the F508del mutation in Malaysian children diagnosed with cystic fibrosis.

Department of Paediatrics, University Malaya Medical Centre, Kuala Lumpur, Malaysia.
Journal of Paediatrics and Child Health (Impact Factor: 1.25). 08/2011; 47(8):573-5. DOI:10.1111/j.1440-1754.2011.02149.x
Source: PubMed
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    ABSTRACT: Cystic fibrosis (CF) is considered to be rare among individuals from the Indian subcontinent. Furthermore, affected individuals are reported to experience a more severe clinical course. It was hypothesised that CF is under diagnosed in people of South Asian origin and therefore the prevalence may be higher than previously estimated. The prevalence of CF in the South Asian and in the general population living in the same geographic region (Metropolitan Toronto) were compared between 1996 and 2001. Population data were obtained from the Canadian census survey. CF phenotype and genotype data were obtained from the Toronto CF database. Among 381 patients with CF, 15 were of South Asian descent. The age related prevalence of CF among the South Asian and general populations was: 0-14 years, 1:9200 versus 1:6600; 15-24 years, 1:13,200 versus 1:7600; older than 25 years, 1:56,600 versus 1:12,400. Age at diagnosis, duration and severity of symptoms at diagnosis, current nutritional status, and FEV(1) were similar in the two groups. While not significant, FEV1 tended to be lower (48% versus 57% predicted) among adult South Asians, compared to the general CF population. Also, the percentage with pancreatic sufficiency was higher (27% versus 16%) and the frequency of DeltaF508 allele was lower (50% versus 65.1%). These data suggest that the prevalence and natural history of CF in South Asians is similar to that among individuals of European origin. The relatively lower prevalence among older South Asians may reflect an improving recognition of CF in this ethnic subgroup.
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    ABSTRACT: The diagnostic criteria proposed here are not likely to cover every possible clinical scenario, and there will be clinical dilemmas. For the vast majority of patients with CF, the diagnosis will be suggested by the presence of one or more characteristic clinical features, a history of CF in a sibling, or a positive newborn screening test result and will then be confirmed by laboratory evidence of CFTR dysfunction (Table V). Abnormal CFTR function will usually be documented by two elevated sweat chloride concentrations obtained on separate days or identification of two CF mutations. For patients in whom sweat chloride concentrations are normal or borderline and in whom two CF mutations are not identified, an abnormal nasal PD measurement recorded on 2 separate days can be used as evidence of CFTR dysfunction. Clinical judgment will continue to be essential in patients who have typical or "atypical" clinical features but who lack conclusive evidence of CFTR dysfunction. Such patients will require close clinical follow-up along with laboratory reevaluation as appropriate.
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    ABSTRACT: It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and the clinical context in which the test is administered can all influence how genetic information is interpreted. This paper describes the conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical settings. Although the diagnosis of CF is usually straightforward, care needs to be exercised in the use and interpretation of genetic tests: genotype information is not the final arbiter of a clinical diagnosis of CF or CF transmembrane conductance regulator (CFTR) protein related disorders. The diagnosis of these conditions is primarily based on the clinical presentation, and is supported by evaluation of CFTR function (sweat testing, nasal potential difference) and genetic analysis. None of these features are sufficient on their own to make a diagnosis of CF or CFTR-related disorders. Broad genotype/phenotype associations are useful in epidemiological studies, but CFTR genotype does not accurately predict individual outcome. The use of CFTR genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended. The importance of communication between clinicians and medical genetic laboratories is emphasized. The results of testing and their implications should be reported in a manner understandable to the clinicians caring for CF patients.
    Journal of Cystic Fibrosis 06/2008; 7(3):179-96. · 2.87 Impact Factor