Publications by authors named "J B Hennermann"
Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare, X-linked lysosomal storage disease caused by reduced activity of iduronate-2-sulfatase (I2S), with subsequent cellular accumulation of the glycosaminoglycans (GAGs), heparan sulfate, and dermatan sulfate (DS). DS is a major component of the extracellular matrix of heart valves, which can be affected in MPS II. We investigated the natural history of valve disease in MPS II and the impact of long-term intravenous enzyme replacement therapy (ERT) with recombinant I2S (idursulfase).
View Article and Find Full Text PDF[Lysosomal storage disorders - Fabry disease and Gaucher disease].
Dtsch Med Wochenschr
October 2024
Article Synopsis
- - Lysosomal storage disorders (LSD) are genetic metabolic conditions caused by issues with lysosomes, affecting roughly 1 in 5000 births, with Fabry and Gaucher diseases being the most prevalent
- - These disorders primarily result from enzyme deficiencies, leading to the buildup of undegraded materials in cells, which can disrupt normal cellular function and cause toxicity or inflammation
- - There are approved treatment options for Fabry and Gaucher diseases, including enzyme replacement therapy, chaperone therapy, and substrate reduction therapy.
Article Synopsis
- Children and adolescents with Pompe disease (PD) experience significant myopathy that requires intensive enzyme replacement therapy (ERT), but little is known about their views on the disease and treatment.
- A study involving interviews with 11 pediatric patients and 26 caregivers highlighted diverse perceptions of symptoms and their social impacts, showing that even mild limitations can be frustrating for patients.
- Participants generally felt relieved by the transition from hospital to home-based ERT, emphasizing improvements in daily life and emotional well-being, although their emotional responses varied widely.
Newborn screening (NBS) is one of the most effective measures of secondary prevention. While the benefit of NBS on the clinical long-term outcomes of children with inherited metabolic diseases (IMD) has been demonstrated, the potential burden of families living with an early diagnosed and treated child with an IMD has not been thoroughly investigated. The aim of this longitudinal questionnaire-based study on 369 families living with a child with an IMD was to investigate the psychosocial and financial burden following a true-positive NBS.
View Article and Find Full Text PDFIntroduction: Current literature lacks consensus on initial assessments and routine follow-up care of patients with alpha-mannosidosis (AM). A Delphi panel was conducted to generate and validate recommendations on best practices for initial assessment, routine follow-up care, and integrated care coordination of patients with AM.
Methods: A modified Delphi method involving 3 rounds of online surveys was used.