Prevalence rates of mucopolysaccharidoses in Poland

• Published in: Journal of applied genetics 2015-05, Vol.56 (2), p.205-210
• Main Authors: Jurecka, Agnieszka, Ługowska, Agnieszka, Golda, Adam, Czartoryska, Barbara, Tylki-Szymańska, Anna
• Format: Article
• Language: English
• Subjects: Animal Genetics and Genomics; Biomedical and Life Sciences; Epidemiology; Human Genetics; Human Genetics • Original Paper; Life Sciences; Microbial Genetics and Genomics; Mucopolysaccharidosis; Plant Genetics and Genomics
• ISSN: 1234-1983; 2190-3883
• DOI: 10.1007/s13353-014-0262-5

The aim of this study was to determine the prevalence rates of mucopolysaccharidoses in Poland and to compare them with other European countries. A retrospective epidemiological survey covering the period between 1970 and 2010 was implemented. Multiple ascertainment sources were used to identify affected patients. The overall prevalence of mucopolysaccharidoses in the Polish population was 1.81 per 100,000. Five different mucopolysaccharidoses were diagnosed in a total of 392 individuals. MPS III was the most frequent mucopolysaccharidosis, with a birth prevalence of 0.86 per 100,000 live births. A prevalence of approximately 0.22 cases per 100,000 births was obtained for MPS I. For MPS II, the prevalence was estimated as 0.45 cases per 100,000 births; for MPS IV A and B as 0.14 cases in 100,000 births; and that for MPS VI as 0.03 cases per 100,000 births. 1. The prevalence pattern of mucopolysaccharidosis in Poland is lower when compared to the prevalence reported for other European countries, such as the Netherlands, Czech Republic, or Germany, but similar to countries like Sweden and Denmark. 2. Different frequencies of the various forms of mucopolysaccharidosis were observed. 3. In the case of MPS VI, the incidence values for Poland were the lowest of all the studies previously published so far.