Publications by authors named "Angustias Fernandez-Escribano"
Article Synopsis
- X-linked hypophosphatemia (XLH) is a rare hereditary disease caused by mutations in the PHEX gene, leading to symptoms like rickets and growth retardation in children, but there is limited data on its clinical spectrum and treatment outcomes.
- A study of 48 Spanish patients revealed that common findings at diagnosis included bone deformities and significant growth issues, with no difference in severity based on gender and no correlation between gene mutations and clinical manifestations.
- Conventional treatments, such as phosphate and vitamin D supplementation, were ineffective at improving growth or correcting low phosphate levels over a median follow-up of 7.42 years.
Background: Studies examining health-related quality of life (HRQOL) in adults with chronic kidney disease (CKD) have demonstrated that certain clinical situations such as number of hospitalisations and anaemia can affect patient quality of life. Very few such studies have been carried out in children.
Objective: To analyse the impact of laboratory variables and various clinical situations on HRQOL of paediatric CKD patients.