Abstract

TEJEDA DILOU, Yoni et al. Hunter syndrome. Advice to couples and families at risk. MEDISAN [online]. 2013, vol.17, n.8, pp.4045-4050. ISSN 1029-3019.

Hunter syndrome or mucopolysaccharidosis Type II is an inborn error of mucopolyssacharide metabolism, caused by deficiency of the lysosomal enzyme iduronate-sulfatase, which determines serious clinical manifestations, multisystem damage and premature death. Due to its hereditary character, patients with this condition should be advised; therefore, a proposal of genetic counseling directed to couples and families at risk of having children with this condition was made, for which the basic components of this process such as diagnosis, risk estimation, communication and support or foundation were taken into account; also, the established ethical principles were respected. Likewise, a comprehensive and updated review on the disease was conducted and a fact sheet was developed with those aspects to be considered, in order to achieve a proper understanding by couples and families affected.

Keywords : genetic counseling; inborn error of metabolism; Hunter syndrome; mucopolysaccharidosis Type II..

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