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Published on: June 14, 2016
Cumulative incidence rates of the mucopolysaccharidoses in Germany
F Baehner1, C Schmiedeskamp, F Krummenauer
1Children's Hospital, Johannes Gutenberg-University of Mainz, Hamburg, Germany. baehner@uni.mainz.de
Abstract:
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 (beta-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.
Insights
This study estimated mucopolysaccharidoses (MPS) incidence in Germany from 1980-1995. The overall rate was 3.53 cases per 100,000 births, similar to other industrial nations.
Area of Science:
- Medical Genetics
- Epidemiology
- Rare Diseases
Background:
- Mucopolysaccharidoses (MPS) are a group of rare genetic disorders.
- Accurate incidence data is crucial for understanding disease burden and planning healthcare.
Purpose of the Study:
- To estimate the cumulative incidence rates of various types of MPS in Germany.
- To compare MPS incidence in Germany with rates from other industrial nations.
Main Methods:
- Retrospective epidemiological survey conducted in Germany between 1980 and 1995.
- Utilized multiple ascertainment sources to identify patients with MPS.
- Calculated incidence rates for MPS I, II, III, IV A, IV B, and VI.
Main Results:
- The overall incidence of MPS in Germany was approximately 3.53 cases per 100,000 live births.
- Specific incidence rates were estimated for MPS I (0.69/100,000), MPS II (0.64/100,000), MPS III (1.57/100,000), MPS IV A (0.38/100,000), and MPS VI (0.23/100,000).
- Incidence rates in Germany were comparable to those reported in other industrial nations, though frequencies of specific MPS types varied.
Conclusions:
- The cumulative incidence of MPS in Germany is consistent with international data.
- Observed variations in the frequencies of different MPS subtypes warrant further investigation.
- The study highlights the importance of epidemiological surveillance for rare genetic disorders.
