Clinical and laboratory chaterization of Niemann-Pick disease

Abstract

Niemann-Pick (NP) is a disease characterized as an innate metabolism error, of which belongs to the classification of lysosomal deposits. It is a genetic disease of autosomal recessive inheritance. Before this study nationwide and on Central American level lacked studies about this specific disease; so, it became necessary to conduct a study of this nature. The clinical and laboratory characteristics of NP disease. Descriptive study of case series performed on 3 patients admitted and diagnosed at the Nutritional Recovery Center (CRN) "Liberty", Esperanza de Vida, Llano Verde, Zacapa, using an elaborate data collection card. Results 100% of patients course with hepatosplenomegaly, generalized hypotonia, failure to thrive and detention of developmental milestones. 66% had problems swallowing and 44% lung involvement, 100% of patients course with anemia, thrombocytopenia and elevated liver function tests. Genetic testing was made in 100% of patients, by means of these tests it was determined at a 100% of them acid sphingomyelinase deficiency, only in 66% of patients it was found SMPD1abnormal gene sequence. Conclusions 100% of cases (n = 3) were NP type IA, presenting anemia, thrombocytopenia and tests of high function liver; and in genetic studies presented deficiency of acid sphingomyelinase. Incidence was determined in the departments of Chiquimula and Zacapa, during the years 2017 and 2018, and it was 1 case for every 10,920 live births.