ABSTRACT
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, X-linked recessive multisystem lysosomal storage disease due to iduronate-2-sulfatase enzyme deficiency. We presented three unrelated Slovenian patients with the severe form of MPS II that received three different management approaches: natural course of the disease without received specific treatment, enzyme replacement therapy (ERT), and hematopoietic stem cell transplantation (HSCT). The decision on the management depended on disease severity, degree of cognitive impairment, and parent's informed decision. The current benefits of MPS II treatments are limited. The lifelong costly intravenous ERT brings significant benefits but the patients with severe phenotypes and neurological involvement progress to cognitive decline and disability regardless of ERT, as demonstrated in published reviews and our case series. The patient after HSCT was the only one of the three cases reported to show a slowly progressing cognitive development. The type of information from the case series is insufficient for generalized conclusions, but with advanced myeloablative conditioning, HSCT may be a preferred treatment option in early diagnosed MPS II patients with the severe form of the disease and low disease burden at the time of presentation.
ABSTRACT
Aim. To get epidemiologic data about primary nocturnal enuresis (PNE) and its influence on the quality of life of Slovenian children and adolescents and to find out the knowledge about the disorder among school population. Methods. Prospective epidemiologic study was performed in Slovenia in 2011 and supported with two questionnaires. The first questionnaire was distributed among primary school population that included 1248 children. The second questionnaire included 44 children, who have been treated for PNE in Nephrology Unit of our Department of Paediatrics. Results. PNE was diagnosed in 12.4% of children, in 11.8% of girls and in 13.0% of boys. There was evident linkage between the appearance of PNE in children and their relatives. The study showed that PNE influences the quality of life in less than half of the investigated children. Disorder restricts them mostly in relations with coevals. Knowledge about PNE among children in elementary schools was found to be insufficient. Conclusion. We found out that the prevalence of PNE in Slovenia is comparable to prevalence in other countries. More than half of children questioned in a survey think that PNE does not affect their lives significantly. General lack of knowledge about PNE is still a problem.
