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Clinical profile, diagnostic delay, and genetic make-up of cystic fibrosis in Kashmir, India

OBJECTIVES: This observational study was done to describe the clinical profile, and delays in diagnosing cystic fibrosis (CF) disease in Kashmir, India. MATERIALS AND METHODS: A total of 6758 patients between the ages of 0 and 19 years were registered over a period of 1 year. Out of these, 150 patie...

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Autores principales: Mir, Tasaduq Ahmad, Ashraf, Mohd, Ahmed, Kaiser, Chowdhary, Javed, Rehana, B, Ahmed, Javid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109853/
https://www.ncbi.nlm.nih.gov/pubmed/21712940
http://dx.doi.org/10.4103/0970-2113.80318
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author Mir, Tasaduq Ahmad
Ashraf, Mohd
Ahmed, Kaiser
Chowdhary, Javed
Rehana, B
Ahmed, Javid
author_facet Mir, Tasaduq Ahmad
Ashraf, Mohd
Ahmed, Kaiser
Chowdhary, Javed
Rehana, B
Ahmed, Javid
author_sort Mir, Tasaduq Ahmad
collection PubMed
description OBJECTIVES: This observational study was done to describe the clinical profile, and delays in diagnosing cystic fibrosis (CF) disease in Kashmir, India. MATERIALS AND METHODS: A total of 6758 patients between the ages of 0 and 19 years were registered over a period of 1 year. Out of these, 150 patients suspected of having CF, on clinical grounds, were subjected to pilocarpine iontophoresis, and later on genetic evaluation. Apart from these specific tests, these patients were subjected to laboratory tests like blood counts, blood sugar, KFT, LFT, pancreatic function test, serum electrolytes, and chloride, urine, throat swab, blood culture, ABG analysis, chest and paranasal X-rays. In addition, sonographic evaluation of abdominal organs was carried out to know the status of internal organs. A polymerase chain reaction (PCR)-based test was used for the identification of CF mutation. RESULTS: CF was diagnosed in three (0.8%) patients. Median age of presentation of CF was 78 months. Family history suggestive of CF was present in one (33.3%) and consanguinity in three (100%) patients. Common clinical manifestations at the time of presentation included recurrent pneumonia in three (100%), failure to thrive in three (100%), recurrent diarrhea in one (33.3%) patients. General physical examination showed pallor in three (100%), malnutrition in three (100%), and clubbing in two (66.7%) patients. Examination of respiratory tract revealed hyperinflation in two (66.7%), rhinitis in two (66.7%), and creptations in two (66.7%) patients. Sonography of abdominal organs revealed pancreatic cysts in one (33.3%), hyperechoeic and increased liver span in two (66.7%), and small gallbladder in one (33.3%). Staphylococcus aureus was cultured from sputum in one (33.3%), pseudomonas aeruginosa in one (33.3%) patients. Delta F508 mutation was present in one (33.3%) patient. CONCLUSION: CF may be more common in Kashmir and other parts of Asia, than indicated by our study; diagnosis is often considerably delayed when the disease is identified solely on clinical grounds. It would be advisable to raise the index of suspicion about CF.
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spelling pubmed-31098532011-06-27 Clinical profile, diagnostic delay, and genetic make-up of cystic fibrosis in Kashmir, India Mir, Tasaduq Ahmad Ashraf, Mohd Ahmed, Kaiser Chowdhary, Javed Rehana, B Ahmed, Javid Lung India Original Article OBJECTIVES: This observational study was done to describe the clinical profile, and delays in diagnosing cystic fibrosis (CF) disease in Kashmir, India. MATERIALS AND METHODS: A total of 6758 patients between the ages of 0 and 19 years were registered over a period of 1 year. Out of these, 150 patients suspected of having CF, on clinical grounds, were subjected to pilocarpine iontophoresis, and later on genetic evaluation. Apart from these specific tests, these patients were subjected to laboratory tests like blood counts, blood sugar, KFT, LFT, pancreatic function test, serum electrolytes, and chloride, urine, throat swab, blood culture, ABG analysis, chest and paranasal X-rays. In addition, sonographic evaluation of abdominal organs was carried out to know the status of internal organs. A polymerase chain reaction (PCR)-based test was used for the identification of CF mutation. RESULTS: CF was diagnosed in three (0.8%) patients. Median age of presentation of CF was 78 months. Family history suggestive of CF was present in one (33.3%) and consanguinity in three (100%) patients. Common clinical manifestations at the time of presentation included recurrent pneumonia in three (100%), failure to thrive in three (100%), recurrent diarrhea in one (33.3%) patients. General physical examination showed pallor in three (100%), malnutrition in three (100%), and clubbing in two (66.7%) patients. Examination of respiratory tract revealed hyperinflation in two (66.7%), rhinitis in two (66.7%), and creptations in two (66.7%) patients. Sonography of abdominal organs revealed pancreatic cysts in one (33.3%), hyperechoeic and increased liver span in two (66.7%), and small gallbladder in one (33.3%). Staphylococcus aureus was cultured from sputum in one (33.3%), pseudomonas aeruginosa in one (33.3%) patients. Delta F508 mutation was present in one (33.3%) patient. CONCLUSION: CF may be more common in Kashmir and other parts of Asia, than indicated by our study; diagnosis is often considerably delayed when the disease is identified solely on clinical grounds. It would be advisable to raise the index of suspicion about CF. Medknow Publications 2011 /pmc/articles/PMC3109853/ /pubmed/21712940 http://dx.doi.org/10.4103/0970-2113.80318 Text en © Lung India http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Mir, Tasaduq Ahmad
Ashraf, Mohd
Ahmed, Kaiser
Chowdhary, Javed
Rehana, B
Ahmed, Javid
Clinical profile, diagnostic delay, and genetic make-up of cystic fibrosis in Kashmir, India
title Clinical profile, diagnostic delay, and genetic make-up of cystic fibrosis in Kashmir, India
title_full Clinical profile, diagnostic delay, and genetic make-up of cystic fibrosis in Kashmir, India
title_fullStr Clinical profile, diagnostic delay, and genetic make-up of cystic fibrosis in Kashmir, India
title_full_unstemmed Clinical profile, diagnostic delay, and genetic make-up of cystic fibrosis in Kashmir, India
title_short Clinical profile, diagnostic delay, and genetic make-up of cystic fibrosis in Kashmir, India
title_sort clinical profile, diagnostic delay, and genetic make-up of cystic fibrosis in kashmir, india
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109853/
https://www.ncbi.nlm.nih.gov/pubmed/21712940
http://dx.doi.org/10.4103/0970-2113.80318
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