Global Journal of Medical Research, F: Diseases, Volume 22 Issue 6

Cystic Fibrosis– Is it Extremely Rare or Invariably Missed: An Observational Study in Bangladesh Scenario M S Khaled α , Firoza Akter σ , Jahangir Khan ρ , Sayedul Islam Ѡ & Md. Golam Dostogir Harun ¥ Abstract- Background: Cystic fibrosis (CF), the most common genetic disorder among the Caucasian population was believed to be extremely rare or non-existent in Indian subcontinent countries like Bangladesh. But the real scenario is not so infrequent as per belief. Objective: To introduce pilocarpine iontophoresis Sweat Chloride Test (SCT) for the first time in Bangladesh for the diagnosis of CF and to determine the phenotypic spectrum of the disease in Bangladeshi patients. Methods: A prospective observational study conducted over a period of 3 years including 400 patients (N=400) clinically suspected of CF and pilocarpine iontophoresis sweat chloride tests were performed using locally developed low-cost technology. Sweat chloride estimation was done by Schales and Schales method. Demographic, clinical, radiological and microbiological profiles of the study participants were recorded. Statistical analyses were done in relation to SCT results. Results: Among 400 clinically suspected CF patients sweat chloride tests were positive in 38 patients (9.02%). The mean age at diagnosis of CF was 8.92 ± 6.72 years with a male preponderance of 63.2%. The most frequent mode of clinical presentation among study participants was recurrent respiratory tract infection (RRTI). Failure to thrive (FTT), recurrent pneumonia, digital clubbing, nasal polyps, rectal prolapse were statistically significant clinical presentations among SCT positive patients (p < 0.05) Bronchiectasis and consolidation in radiology and P . aeruginosa and Klebsiella in microbiology were found to be significantly associated with elevated sweat chloride levels. (p<.05). Conclusion: The presence of CF patients in Bangladesh are more common than previous thinking but the diagnosis is often missed or considerably delayed and hence the advancement of Author α : Associate Professor (Ped Pulmonology), National Institute of Diseases of the Chest and Hospital (NIDCH), Mohakhali, Dhaka, Bangladesh. Author σ : Asst. Professor (Microbiology), Mugda Medical College, Dhaka, Bangladesh. Author ρ : Asst. Professor (Biochemistry), Hobigong Medical College, Sylhet, Bangladesh. Author Ѡ : Associate Professor (Resp Medicine), National Institute of Diseases of the Chest and Hospital (NIDCH), Mohakhali, Dhaka, Bangladesh. Author ¥: Asst. Professor (Public Health), Daffodil International University, Dhaka. Corresponding Author α : DCH; MD Associate Professor (Ped Pulmonology), National Institute of Diseases of the Chest and Hospital (NIDCH), Mohakhali, Dhaka, Bangladesh. e-mail : drkhaledrmc@gmail.com the disease. A high index of suspicion among physicians and increasing availability of diagnostic facilities may provide the actual scenario of the disease and enhance the need for the development of country-specific management protocol. Keywords: cystic fibrosis, sweat chloride, pilocarpine iontophoresis, bangladesh. I. I ntroduction ystic fibrosis (CF) is a multisystem genetic disorder that commonly affects children and young adults and is the most common life-limiting disease among the Caucasian population. 1 The disease, although can involve almost all systems of the body, most commonly involves the respiratory and digestive systems with phenotypic presentations of repeated respiratory tract infections, recurrent or persistent pneumonia, malabsorption, steatorrhea and failure to thrive (FTT). The basic defect in CF is mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene located on the long arm of chromosome 7 at a position of 7q31.2 2 which results in absence or improper chloride conductance by epithelial cells present on mucosal surfaces leading to dehydration of mucosal secretions that are too thick and viscid and difficult to clear. 3 Although mutation analysis for CFTR gene might be the confirmatory diagnostic tool, 4 however, because of the large number of mutations, confirmation of CF diagnosis by genetic testing is limited 5 and till today, the mainstay of CF diagnosis is the sweat chloride test. Pilocarpine iontophoresis sweat chloride testing for quantitative analysis of sweat to determine chloride concentration has been the gold standard for the diagnosis of CF for more than a half-century. 6 Indeed, few tests in clinical medicine have the discriminating power of the sweat test. 7 The incidence of CF is variable in different kinds of literature reported from different corners of the world. The incidence is approximately 1 in 2500 children born in UK 8 , less common in African Americans (1: 1500) and Asian Americans (1: 31000) 9 . The accurate incidence of CF among the populations in the Indian subcontinent is exactly not known. CF was thought to be extremely rare or non-existent in this region with a widespread belief that C 19 Year 2022 Global Journal of Medical Research Volume XXII Issue VI Version I ( D ) F © 2022 Global Journals