Profile of cystic fibrosis in a single referral center in Egypt

El-Falaki, Mona Mostafa; Shahin, Walaa; ElBasha, N.; Ali, Aliaa A.; Mehaney, Dina A.; Elattar, Mona Mohsen

doi:10.1016/j.jare.2013.07.005

Cited by 24 publications

(30 citation statements)

References 27 publications

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“…Limited data are available about CF in Egypt. Only two recently published articles highlighted the presence of many cases assuming that it is not uncommon in Egypt (Naguib et al 2007 ; El-Falaki et al 2014 ).…”

Section: Discussionmentioning

confidence: 99%

“…Our study addressed the most common CFTR mutations in another 60 CF patients different from those included in our previous study (El-Falaki et al 2014 ). Most of patients included in the sample had typical clinical manifestations of repeated chest infection, variable pulmonary disease, steatorrhea, failure to thrive and early liver disease.…”

Section: Discussionmentioning

confidence: 99%

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Mutation spectrum of Egyptian children with cystic fibrosis

2016

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ObjectiveTo know the common CFTR mutations in the Egyptian patients with cystic fibrosis as it was previously thought to be uncommon disease in Egypt.MethodsThis is a cross sectional study of 60 patients diagnosed as cystic fibrosis by sweat chloride testing. They were enrolled from the Allergy and Pulmonology Unit Children’s Hospital Cairo University. They were screened for the presence of the frequent 36 mutations in Caucasians by reverse hybridization line probe technique, using INNO-LiPACFTR19 and CFTR17 + Tn kits.ResultsMost of patients presented with classic manifestations of CF such as variable pulmonary disease and pancreatic insufficiency, and hepatomegaly with or without ascites. The mutations detected were F508 del (58 %), 2183AA/G (10 %), N1303K (6 %), I148T (4 %), W1282X (4 %), G155D (2 %), CFTRdel2-3 (21 KB) (2 %), 3199del6 (2 %), R347P (2 %). Unique to the Egyptian population are these mutations R1162X and A544E (6, 4 %) respectively they were found in our cohort study and were not reported elsewhere in the Arab population till now. There was no association between the initial clinical presentation of CF and the genotypes detected.ConclusionThe F508 del is still the most commonly encountered mutation (58 %), however other rare mutations were identified where each ranged from (2 to 10 %).

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Mutation spectrum of Egyptian children with cystic fibrosis

2016

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“…This is in contrast to data reported from Europe and USA where CF patients are usually diagnosed in first year of life. El-Falaki et al showed similar results with majority of patients had symptoms in first year of life and diagnosis was made after second year of life 9. This delay is partly due to lack of rationalizing CF by health care provider as an important differential diagnosis and partly by non-availability of facilities assistingearly diagnosis 10.…”

Section: Discussionmentioning

confidence: 86%

Clinical and laboratory profile of children with Cystic Fibrosis: Experience of a tertiary care center in Pakistan

Aziz¹,

Billoo²,

Qureshi³

et al. 2017

Pak J Med Sci

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Objective:To determine the clinical presentation, diagnostic investigations and laboratory workup done in admitted children with cystic fibrosis at Aga Khan University Hospital Karachi, Pakistan.Methods:This is athree years retrospective study from January 2013 to December 2015 conducted at The Aga Khan University Hospital Karachi Pakistan, enrolling admitted patient from birth to 15 years of either gender, diagnosed with CF on the basis of clinical features and positive sweat chloride test. Different clinical presentations were noted including initial presentations. Sweat chloride values more than 60mmol/L were labeled as positive and consistent with diagnosis of CF. Available Delta F-508 mutation analyses were noted. Relevant laboratory and radiological investigations including sputum culture and HR-CT chest findings were documented. Results were analyzed using SPSS version 20.Results:Total 43 children were selected according to the inclusion criteria. Chronic cough (69.76%) was the most common initial clinical presentation. Mean age at onset of symptoms was 14.41± 26.18 months and mean age at diagnosis was 47.20 ± 45.80 months Respiratory features were most common in our cohort including chronic productive cough (90.71%), recurrent bronchopneumonia (72.09%) and asthma like presentation (44.19%) with wheezing and cough. 86% patients presented with failure to thrive. Gastroenterological features including steatorrhea were seen in 55.81% patients and 44.19% patients had abdominal distension. Mean sweat chloride value in our population was 82.70± 22.74. Gene analysis for Delta F-508 was identified in 12 (27.90%) patients. Bronchiectatic pulmonary changes on HRCT were seen in 18 patients (41.86%). Pseudomonas grew in 12 patients (27.90%) in sputum cultures at the time of diagnosis.Conclusion:Respiratory presentations predominate in CF children followed by gastrointestinal features. Nearly half of our patient had bronchiectatic changes on CT scan chest and more than quarter had pseudomonas colonization in the airways at the time of diagnosis. Delta F-508 mutation was found to be uncommon in our study population. There is significant delay in diagnosing patients with CF.

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“…6 Since then, more than 2,000 mutations in CFTR gene have been reported, of which two nonsense mutations (G542X and W1282X) are relatively common in Egypt and other countries. 7,8 However, several cases with positive genetic tests may not fit into the full diagnostic criteria for CF (CFTR-related disease or syndrome) and can present with chronic rhinosinusitis, recurrent wheezes, or cough 9 and can be a cause of poor asthma control.…”

Section: Introductionmentioning

confidence: 99%

Screening for the Most Common Mutations of CFTR Gene among Egyptian Children with Difficult-to-Treat Asthma

et al. 2020

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Cystic fibrosis (CF) is panethnic autosomal recessive disease that affects the exocrine glands of pancreas, lungs, and intestine. It is often misdiagnosed in developing countries as difficult-to-treat asthma. We enrolled 150 Egyptian families with one or more probands who were complaining of difficult-to-treat asthma, and 112 cases were studied extensively through history taking including pedigree construction and clinical examination. In addition, spirometry and computed tomography of the chest were done in selected cases. All cases were subjected to quantitative sweat chloride test and molecular screening for the three most common mutations of cystic fibrosis transconductance regulator (CFTR) gene (ΔF508, G542X, W1282X) using amplification refractory mutation system (ARMS) technique. Probands of difficult-to-treat asthma comprised 66 males and 46 females; their age range was 1 to 14 years. Sixty-one probands (54.5%) were carriers of one or more of the studied mutations (36 cases and 25 carriers). Six carriers of single mutations had mild respiratory symptoms and negative sweat test. The most common allele was ΔF508, 60 alleles in 56 individuals (4 were homozygous ΔF508/ΔF508) followed by W1282X in 25 individuals and G542X in 12 individuals. Allele W1282X had an increased risk of recurrent chest infection and bronchiectasis. Moreover, cases with two mutations had more severe symptoms compared with those with a single mutation. CFTR mutations and CF-related syndromes are not rare as thought in Egypt, especially among the high-risk difficult-to-treat asthma. The readily available ARMS technique is recommended for ΔF508 and/or W1282X screening on priority basis among these children.

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Profile of cystic fibrosis in a single referral center in Egypt

Cited by 24 publications

References 27 publications

Mutation spectrum of Egyptian children with cystic fibrosis

Mutation spectrum of Egyptian children with cystic fibrosis

Clinical and laboratory profile of children with Cystic Fibrosis: Experience of a tertiary care center in Pakistan

Screening for the Most Common Mutations of CFTR Gene among Egyptian Children with Difficult-to-Treat Asthma

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