Publications by authors named "Angeles Fernandez-Maseda"
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.
Objective: To find out if cardiovascular alterations are present in pediatric patients with X-linked hypophosphatemia (XLH).
Study Design: Multicentre prospective clinical study on pediatric patients included in the RenalTube database ( www.renaltube.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure. This rare disease is caused by mutations in the CLDN16 and CLDN19 genes. These genes encode the tight junction proteins claudin-16 and claudin-19, respectively, which regulate the paracellular ion reabsorption in the kidney.
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