Cumulative incidence rates of the mucopolysaccharidoses in Germany
- 773 Downloads
In order to estimate the cumulative incidence rates of the mucopolysaccharidoses (MPS) in Germany, a retrospective epidemiological survey covering the period between 1980 and 1995 was implemented. Multiple ascertainment sources were used to identify affected patients. A prevalence of approximately 0.69 cases per 100 000 births was obtained for MPS I (Hurler phenotype). Within the study period, 4 patients with Hurler/Scheie phenotype and 7 cases with Scheie disease were detected. The cumulative incidence for MPS II (Hunter syndrome) was estimated as 0.64 cases per 100 000 births (1.3 cases per 100 000 male live births); that for MPS III (Sanfilippo syndrome types A, B and C) as 1.57 cases in 100 000 births; that for MPS IV A (Morquio syndrome) as 0.38 cases in 100 000; and that for MPS VI (Maroteaux–Lamy syndrome) as 0.23 cases per 100 000 births. Two cases of MPS IVB (β-galactosidase deficiency) have been identified, but no patients with MPS VII or MPS IX. A relatively high number of patients with MPS IIIB, MPS IVA and MPS VI were of Turkish origin. The crude rate for all types of mucopolysaccharidoses is approximately 3.53 cases in 100 000 live births. The cumulative incidence pattern of MPS in Germany was compared with the corresponding rates among other industrial nations obtained from recent literature: the crude cumulative rates for all types of mucopolysaccharidoses (3.4–4.5 in 100 000 live births) were similar among all published populations; however, different frequencies of the various forms of MPS were observed.
KeywordsHunter Syndrome Cumulative Incidence Rate Turkish Origin Male Live Birth Sanfilippo Syndrome
Unable to display preview. Download preview PDF.
- Breslow N, Day N (1987) The design and analysis of cohort studies. In: Statistical Methods in Cancer Research, vol. II. Lyon: IARC Publications.Google Scholar
- Poupetova H (2003) Prevalence of lysosomal storage disorders in the Czech and Slovak Republics. ESGLD Workshop, Podebrady, Czech Republic. Sponsoring Organization: European Study Group on Lysosomal Diseases.Google Scholar
- Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR (1999) Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Proc Natl Acad Sci USA 96: 6296–6300.CrossRefPubMedGoogle Scholar
- Van de Kamp JJP (1979) The Sanfilippo syndrome: a clinical and genetical study of 75 patients in The Netherlands. Thesis: University of Leiden.Google Scholar