Publications by authors named "Line Hougaard Nielsen"
Ugeskr Laeger
February 2014
Article Synopsis
- - Hypophosphataemic rickets is a rare genetic disorder that leads to poor bone mineralization and rickets.
- - Current treatments, like phosphate supplements and alfacalcidol, can cause side effects and often do not fully prevent deformities or reduce height.
- - There's a need for specialized care and international collaboration, and future treatments may be enhanced by new experimental options.
Article Synopsis
- Hypophosphataemic rickets (HR) is a rare genetic disorder that causes low phosphate levels, leading to bone mineralisation issues and rickets in affected children.
- A study at H.C. Andersen Children's Hospital identified 15 children with HR, primarily caused by X-linked mutations, and noted treatment with phosphate and alphacalcidol over an average of 7.7 years.
- Findings indicated that the current treatment methods are inadequate, with significant height decline, leg deformities, and frequent complications, emphasizing the need for better centralized care and new research trials.
