Rijetka, ali među nama – zašto i dalje propuštamo ASMD?

Abstract

The text describes acid sphingomyelinase deficiency as a rare autosomal recessive lysosomal storage disease also known as Niemann-Pick disease type A, A/B and B. The clinical forms of the disease, phenotypic variability, estimated prevalence and the possibility of underdiagnosing milder forms are described. The importance of timely recognition and continuous monitoring of patients in reference centers for rare diseases is emphasized in order to prevent complications and assess the success of treatment.