New study reveals genetic causes of patients with reduced phosphorus levels

20 de April de 2023

The research team from IDIVAL, HUMV and Sierrallana Hospital indicates that the results could help to prescribe the appropriate treatment and prevent complications.

Identifying the causes of the decrease in the concentration of phosphorus in the blood was the main objective of the study carried out by the research team belonging to the Marqués de Valdecilla Health Research Institute (IDIVAL), as well as to the Internal Medicine, Pediatrics, Clinical Analysis and Biochemistry, Genetics and Endocrinology Services of the Marqués de Valdecilla University Hospital (HUMV), and the Rheumatology and Clinical Analysis and Biochemistry Services of the Sierrallana Hospital.

Phosphorus is an element that plays an important role in the functioning of bone, muscle and other body tissues and until now, the origin of low blood levels, hypophosphatemia, was not completely defined. The findings of this study show the importance of considering the genetic causes in patients with this type of alterations since an accurate diagnosis could help to prescribe the appropriate treatment and prevent complications.

This project is one of the largest of its kind to date. In the research, the team reviewed more than 800,000 analytical results and more than 1,200 medical records, which led to the identification of 109 patients with persistent phosphorus depletion. After biochemical and hormonal studies, molecular analysis of DNA extracted from blood showed that there was a genetic alteration in 14 of these patients. In most cases the alteration was in genes that regulate the absorption of phosphorus in the intestine or its elimination by the kidney, but in some cases it was in other genes that were not known to be related to phosphorus levels in the blood.


Reference:  Puente-Ruiz N, Docio P, Unzueta MTG, Lavín BA, Maiztegi A, Vega AI, Piedra M, Riancho-Zarrabeitia L, Mateos F, Gonzalez-Lamuño D, Valero C, Riancho JA. Uncovering genetic causes of hypophosphatemia. J Intern Med. 2023 Mar 31.