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Clinical profile, diagnostic delay, and genetic make-up of cystic fibrosis in Kashmir, India.
MedLine Citation:
PMID:  21712940     Owner:  NLM     Status:  PubMed-not-MEDLINE    
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.
Tasaduq Ahmad Mir; Mohd Ashraf; Kaiser Ahmed; Javed Chowdhary; B Rehana; Javid Ahmed
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Lung India : official organ of Indian Chest Society     Volume:  28     ISSN:  0974-598X     ISO Abbreviation:  Lung India     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-06-29     Completed Date:  2011-07-14     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  8405380     Medline TA:  Lung India     Country:  India    
Other Details:
Languages:  eng     Pagination:  97-100     Citation Subset:  -    
Department of Pediatrics, SKIMS Medical College, Srinagar, India.
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