Carrier frequency of F508del mutation of cystic fibrosis in Indian population

Kapoor, Vishal; Shastri, Shivaram; Kabra, Madhulika; Kabra, S. K.; Ramachandran, Vijaya; Arora, Sunita; Balakrishnan, Prahlad; Deorari, Ashok K.; Paul, Vinod K.

doi:10.1016/j.jcf.2005.10.002

Cited by 40 publications

(31 citation statements)

References 8 publications

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“…In addition using the prevalence of F508del it has been suggested there may be 10,247 to 23,730 CF patients in India [45]. Unfortunately we were unable to involve India in our results as the estimates of the total number of patients are vague and there no figures for the number of adults (if any) with CF.…”

Section: Resultsmentioning

confidence: 94%

Multi-Country Estimate of Different Manifestations of Aspergillosis in Cystic Fibrosis

2014

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Aspergillus spp. can lead to allergic bronchopulmonary aspergillosis (ABPA), Aspergillus sensitisation and Aspergillus bronchitis in CF. The relative frequencies of these entities have recently been ascertained in a large UK adult CF cohort. We have used this data to estimate the burden of aspergillosis and ABPA cases in adult CF patients in 30 countries reporting CF. National and international CF registry data was accessed and assessed for completeness and age distribution. Published proportions of ABPA (17.7%), Aspergillus sensitisation (14.6%) and Aspergillus bronchitis (30%) in CF were applied to those >18 years and compared with notified ABPA cases. Of the 76,201 estimated CF patients worldwide (not including India), 37,714 were >18 years. The proportion of adults to children varied from 63% in Norway to 20% in Brazil. ABPA caseload in adults is anticipated to be 6,675 cases of which only 2,221 cases (33%) are currently recorded, indicating substantial underdiagnosis. The ABPA diagnosis rate compared with estimated rates varies by country from 101% (France) to 14.5% (Greece), although genetic variation could account for genuine differences compared with the UK. Aspergillus bronchitis is not currently recognised or recorded in CF registries but there are an anticipated 10,988 adult cases. Aspergillus sensitisation, associated with increased bronchiectasis and reduced FEV1, affects an anticipated 5,506 patients without ABPA or Aspergillus bronchitis. Together ABPA and Aspergillus bronchitis are estimated to affect 17,989 adults, 47.7% of the adult CF population. ABPA also occurs in children and teenagers and 984 cases were documented in registries. Diagnosed ABPA rates by age were available for the ECFS registry, USA, UK, Ireland, Belgium and Netherlands. The rate was <1% under 4 years, and increased throughout childhood and adolescence, with marked variation between countries. Newly published diagnostic criteria and methods should facilitate better recognition of aspergillosis in CF, allowing better CF disease control.

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Section: Resultsmentioning

confidence: 94%

Multi-Country Estimate of Different Manifestations of Aspergillosis in Cystic Fibrosis

2014

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“…1). The other common place of origin was the neighbouring country of Pakistan with history of migration to India (16), followed by the states of West Bengal (10) and Delhi (8). The place of origin of the father and mother was different for five patients.…”

Section: Demographic Profile Of the Patientsmentioning

confidence: 99%

“…The estimated prevalence of CF among Indians living in UK and USA is 1 in 10,000 to 1 in 12,000 and 1 in 40,000 respectively [5][6][7]. The prevalence of CF in a north Indian population was estimated to be 1 in 43,321 to 1 in 100,323 by screening 955 cord blood samples for the presence of p.F508del mutation [8]. The preliminary reports on the mutation spectrum in Indian CF children indicate that p.F508del is the most common mutation, accounting for about 19-40% of the mutations [9][10][11][12].…”

Section: Introductionmentioning

confidence: 99%

Characterisation of mutations and genotype–phenotype correlation in cystic fibrosis: Experience from India

Shastri

Kabra

et al. 2008

Journal of Cystic Fibrosis

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“…Based on reports of CF in migrants from Indian subcontinent to UK and USA, the prevalence of CF is estimated to be between 1/10,000 and 1/40,000 in this ethnic group (27). There is only one study which was done to estimate the carrier frequency of F508del mutation among neonates using cord blood samples to reflect the prevalence of CF in the study population (28). …”

Section: Cystic Fibrosismentioning

confidence: 99%

Newborn screening in India: Current perspectives

Kapoor

Kabra

2010

Indian Pediatr

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Carrier frequency of F508del mutation of cystic fibrosis in Indian population

Abstract: CF does occur in Indian subcontinent though the prevalence is lesser than the Caucasian population.

Cited by 40 publications

References 8 publications

Multi-Country Estimate of Different Manifestations of Aspergillosis in Cystic Fibrosis

Multi-Country Estimate of Different Manifestations of Aspergillosis in Cystic Fibrosis

Characterisation of mutations and genotype–phenotype correlation in cystic fibrosis: Experience from India

Newborn screening in India: Current perspectives

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