Medicina - Palmira
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Browsing Medicina - Palmira by Author "Ardila Millán, Luisa María"
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Item Importancia del pedigree en el diagnóstico neonatal de las enfermedades huérfanas: reporte de caso MPS VI(Universidad Santiago de Cali, 2024) Cuero Castro, José Rodolfo; Ardila Millán, Luisa María; Ortiz González, Daniela; Maldonado Benítez, David Emilio (Director)Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is a lysosomal storage disease that has an autosomal recessive inheritance pattern. It is progressive in nature, requiring early diagnosis and treatment. It is determined by the presence of variants in the gene encoding the lysosomal enzyme, arylsulfatase B, located on chromosome 5 (5q13-5q14). MPS occurs with an approximate frequency of one case in 25,000 live births worldwide. With a frequency of 2.04:100,000 in Asia and 1.2:100,000 in the United States. Studies carried out in Colombia proposed an incidence of 0.45:100,000 patients with MPS I, 0.17:100,000 with MPS III, 0.68:100,000 with MPS IV and 0.23:100,000 in patients with MPS VI; with no impact of MPS VII and MPS IX. According to the National Institute of Health of Colombia, in 2023, in the epidemiological period XIII, 13,714 cases were reported to the Public Health Surveillance System (SIVIGILA) for rare orphan diseases. Of these, only 0.07%, equivalent to 9 patients, were reported as MPS VI, and for the year 2024, no new cases of MPS VI have yet been reported to the Public Health Surveillance System (SIVIGILA). In our country there are no neonatal screening policies (pedigree) for lysosomal storage diseases, for some newborns the phenotype involvement may be subtle, hence the importance of evaluating prenatal, perinatal and family risk factors. The realization of the pedigree, and a good clinical history allow early detection in order to establish specific and targeted treatments, bringing us closer to precision medicine in order to reduce morbidity-mortality in countries where there are no neonatal screening policies.