Current status and challenges for LSDs in Bangladesh

Abstract

Background: With the fall of deaths of children from diarrhoea, respiratory tract infections and malnutrition due to availability of improved health services and diet, more children are now surviving and visiting hospital with genetic disorders. Lysosomal storage disorders represent a group of genetically distinct, biochemically related, inherited diseases. Individually, these disorders are considered rare, but collectively prevalence is 1 per 5,000-10,000. These disorders are devastating for individuals and their families and result in difficulties in diagnosis; however, the magnitude of the problem is not well defined. Objective: To determine the current status and challenges regarding lysosomal storage disorders in Bangladesh. Methodology: It was a retrospective study conducted in Dhaka Shishu (Children) Hospital from 2007 to 2016. Data of suspected neurometabolic disorders form hospital records and from child development and pediatric neuroscience department were included in the study. Patients profile and neurometabolic screening reports were collected. Challenges in diagnosis and managementwere noted. Data were analyzed by using SPSS. Results: Total 181 neurometabolic diseases were analyzed and different lysosomal storage disorders were found in 79(43.65%) individualswith male predominance (64%). Majority were presented between 1 year to 5 years of age. H/O Consanguinity in 31%, sibling death in 17%, affected sib in family in 5%, perinatal insult in 51%, developmental regression in 41%, early developmental delay in 51% and seizure in 75% cases were the common presenting feature. Most of them were diagnosed on the basis of clinical findings, X-ray findings, bone marrow study, liver biopsy, echocardiography and MRI findings. Lack of suspicion, lack of facility of specific enzyme assay and unavailability of treatment are the major challenges. Conclusions: There have been significant advances in the field of LSDs but proper diagnosis and effective therapies are still not available to the patients suffering from these diseasesin Bangladesh.