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Tuesday, August 4, 2009

Cystic fibrosis: defining a disease under-diagnosed in Pakistan

Trop Med Int Health. 2009 May;14(5):542-5.

Cystic fibrosis: defining a disease under-diagnosed in Pakistan.Shah U, Frossard P, Moatter T.Harvard Medical School Dubai Center, Dubai, UAE.Objective

Cystic fibrosis is frequently missed in the Pakistani population due to lack of appropriate diagnostic tools. Thus our aim was to define unknown disease-causing mutations to help create suitable diagnostic tests and improve understanding of what appears to be an aggressive and under-diagnosed disease in this population.

Methods Patients with elevated sweat chloride values and clinically suspected CF were recruited from Aga Khan University, Pakistan. Mutations DF508, S549R, S549N, Y569D, 296 + 12(T>C), G553X, G551D and G551X were screened for by allele specific polymerase chain reactions. CFTR exons 10, 11 and 12 were sequenced by direct DNA sequencing.

Results Of 150 patients tested by PCR, 26 (17.3%) were positive for DeltaF508. One patient was a F508/S549N compound heterozygote. Eighty-three of 87 patients sequenced for mutations in exon 10 were normal; 42/43 for exon 11 and 29 for exon 12 were normal.

Conclusion This first step in defining mutations involved in Pakistani CF suggests that DeltaF508 is uncommon and S549 was the only additional mutation identified in CFTR exons 10, 11 and 12. Identification of the remaining mutations and their frequency is required to design appropriate tests and improve understanding and management of the disease.

PMID: 19645745 [PubMed - in process]


  1. Hi Amy,

    I always get so much useful information here.....thank you so much!

    I have a question for you. I have major allergy problems....I was skin tested and almost passed out just on the scratch portion of the test.

    I used to take singulair and it never did much good. I've been reading your posts about taking both Allegra and Singulair.

    I am wondering if you take both meds chronically or just seasonally.

    Also, did you notice any difference in any of your pft test measures.

    My tiny airways (FEV25-75% are only in the mid 30-40's) and I am wondering if allergies are a big part of that.

    FEV1 is 70% currently. It's not horrible for being 34 years old, but I'm not happy with the number at all. I used to be mid-80's before I had to have emoblizations for bleeding.

    Anyway, thanks for reading and I'll look forward to hearing your input.


  2. Hi Becki -

    I'm so pleased that you find my blog useful. that is my intent with each and very post.

    In terms of taking both an antihistamine (such as Allegra) and a leukotriene agonist (Singulair) I do take both all the time.

    Studies have show (and I have them on my blog) that both meds help CF patients, even if they don't have allergies.

    I have allegies, so they help me as well.

    Some background - when you have alergies, there are at least 2 components to the allergi cascade - 70% is histamine and 30% is leukotriene.

    So if you're taking just an anti-histamine or just a leukotriene agonst, you're not addressing 100% of the issue.

    Hope that helps.