Publications by authors named "J G Langendonk"
Article Synopsis
- Erythropoietic protoporphyria (EPP) is an inherited metabolic disease that leads to painful reactions to sunlight and increased risk of osteoporosis due to low bone mineral density (BMD) and vitamin D deficiency.
- A study on EPP patients revealed that a significant majority had low BMD, with 39.5% classified as osteopenic and 15.3% as osteoporotic, alongside a high incidence of related fractures.
- The findings highlight the importance of maintaining adequate vitamin D levels for improving BMD, while treatments like afamelanotide did not show effectiveness.
Article Synopsis
- The erythropoietic protoporphyrias are three rare genetic disorders that disrupt heme production, causing a buildup of protoporphyrin IX (PPIX) in red blood cells and leading to severe skin pain from light exposure, starting in early childhood.
- Diagnosis involves measuring PPIX levels in the blood, and complications can include liver issues, gallstones, anemia, and vitamin D deficiency.
- Management focuses on avoiding light triggers, addressing complications, and using treatments like afamelanotide to improve quality of life, with careful consideration of iron supplementation depending on the specific disorder.
Article Synopsis
- Erythropoietic protoporphyria (EPP) is a genetic disorder that leads to painful reactions to sunlight, significantly affecting the quality of life (QoL) of both children and adults.
- This study compared QoL scores between children with EPP and matched healthy controls, revealing lower scores in physical and social aspects for the EPP group, though not statistically significant after adjustment.
- While children's overall EPP-QoL scores were similar to those of adults with EPP, they showed significantly lower scores in the disease-specific subdomain, highlighting the urgent need for treatment options and further research for affected children.
Article Synopsis
- Patients with erythropoietic protoporphyria (EPP) often experience painful photosensitivity and have a high prevalence of vitamin D deficiency and osteoporosis, even after starting treatment with the drug afamelanotide, which has been available since 2016.
- A study involving 230 EPP patients analyzed vitamin D levels from 2005 to 2021, comparing those who received different treatments, including afamelanotide and cholecalciferol (vitamin D3).
- Results indicated that while afamelanotide alone did not significantly increase vitamin D levels, cholecalciferol and combined therapy with both treatments did lead to significant improvements, highlighting the importance of vitamin D supplementation for these patients.
Objective: Classical galactosemia (CG) is an inborn error of galactose metabolism. Many CG patients suffer from long-term complications including poor cognitive functioning. There are indications of social dysfunction but limited evidence in the literature.
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