Dataset Information

Epidemiology of mucopolysaccharidoses.

ABSTRACT: The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, respectively. MPS VI and VII were more rare and accounted for 1.7 and 1.3%, respectively. A retrospective epidemiological data collection was performed in Switzerland between 1975 and 2008 (34years), and 41 living MPS patients were identified. The combined birth prevalence was 1.56 per 100,000 live births. The highest birth prevalence was 0.46 for MPS II, accounting for 29% of all MPS. MPS I, III, and IV accounted for 12, 24, and 24%, respectively. As seen in the Japanese population, MPS VI and VII were more rare and accounted for 7.3 and 2.4%, respectively. The high birth prevalence of MPS II in Japan was comparable to that seen in other East Asian countries where this MPS accounted for approximately 50% of all forms of MPS. Birth prevalence was also similar in some European countries (Germany, Northern Ireland, Portugal and the Netherlands) although the prevalence of other forms of MPS is also reported to be higher in these countries. Birth prevalence of MPS II in Switzerland and other European countries is comparatively lower. The birth prevalence of MPS III and IV in Switzerland is higher than in Japan but comparable to that in most other European countries. Moreover, the birth prevalence of MPS VI and VII was very low in both, Switzerland and Japan. Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of MPS, as seen for other rare genetic diseases. Methods for identification of MPS patients are not uniform across all countries, and consequently, if patients are not identified, recorded prevalence rates will be aberrantly low.

SUBMITTER: Khan SA

PROVIDER: S-EPMC5653283 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature

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Epidemiology of mucopolysaccharidoses.

Khan Shaukat A SA Peracha Hira H Ballhausen Diana D Wiesbauer Alfred A Rohrbach Marianne M Gautschi Matthias M Mason Robert W RW Giugliani Roberto R Suzuki Yasuyuki Y Orii Kenji E KE Orii Tadao T Tomatsu Shunji S

Molecular genetics and metabolism 20170526 3

The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, respectively. MPS VI ...[more]

PMID: 28595941

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Project description:BackgroundPatients suffering from mucopolysaccharidosis are among the most complex from the anesthesiological point of view, especially regarding the management of the airway. The evidence base for anesthesia management is often limited to case reports and small case series.AimsTo identify useful information about experience with each subtype of mucopolysaccharidosis reported in the literature and propose a guide on the best options for airway management to the anesthesiologists who take care of these patients.MethodsA query of the PubMed database specific for "anesthesia" and "mucopolysaccharidosis" and a further query specific for "mucopolysaccharidosis and difficult airway management" was conducted. We looked for those items that offered practical guidance to anesthesiological management. We did not exclude case reports, especially those that reported a specific technique, because of their practical suggestions.ResultsWe identified 15 reviews, 17 retrospective case series, 5 prospective studies, and 28 case reports that focused on airway managements in anesthesia or had practical suggestions for preoperative evaluation and risk assessment. An accurate preoperative evaluation and the need for an experienced team are emphasized in all the reviewed articles and for each type of mucopolysaccharidosis. Many suggestions on how to plan the perioperative period have been highlighted. Insertion of a laryngeal mask airway generally improves ventilation and facilitates intubation with a fiberoptic bronchoscope. Furthermore, the videolaryngoscope is very useful in making intubation easier and facilitating bronchoscope passage.ConclusionsPatients with mucopolysaccharidosis are at high risk for anesthesia-related complications and require a high level of attention. However, a multidisciplinary approach, combined with expertise in the use of new techniques and new devices for airway management, makes anesthesiological management safer. Further research with prospective studies would be useful.

Dataset Information

Epidemiology of mucopolysaccharidoses.

Publications

Epidemiology of mucopolysaccharidoses.

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