RT Journal Article
T1 The Effects of Parenteral K1 Administration in Pseudoxanthoma Elasticum Patients Versus Controls. A Pilot Study.
A1 Carrillo-Linares, Juan Luis
A1 García-Fernández, María Inmaculada
A1 Morillo, María José
A1 Sánchez, Purificación
A1 Rioja, José
A1 Barón, Francisco Javier
A1 Ariza, María José
A1 Harrington, Dominic J
A1 Card, David
A1 Boraldi, Federica
A1 Quaglino, Daniela
A1 Valdivielso, Pedro
K1 carboxylated proteins
K1 menaquinone
K1 osteocalcin
K1 pseudoxanthoma elasticum
K1 vitamin K
AB Pseudoxanthoma elasticum (PXE) is a rare disease caused by mutations in the ABCC6 gene. Vitamin K1 is involved in the posttranslational carboxylation of some proteins related to inhibition of the calcification process. Our aim was to investigate, in patients affected by PXE, baseline levels of vitamin K1-dependent proteins and -metabolites and whether parenteral administration of phytomenadione was effective in modulating their levels. We included eight PXE patients with typical clinical symptoms (skin, retina, and vascular calcification) and two ABCC6 causative mutations; 13 clinically unaffected first-degree patients' relatives (9 carrying one ABCC6 mutation and 4 non-carriers). We assessed urinary vitamin K1 metabolites and serum Glu- and Gla-OC, Gas6 and undercaboxylated prothrombin (PIVKA-II), at baseline and after 1 and 6 weeks after a single intramuscular injection of 10 mg vitamin K1. Comparison of PXE patients, heterozygous, and non-carriers revealed differences in baseline levels of serum MK-4 and of urinary vitamin K metabolites. The response to phytomenadione administration on vitamin K-dependent proteins was similar in all groups. The physiological axis between vitamin K1 and vitamin K-dependent proteins is preserved; however, differences in the concentration of vitamin K metabolites and of MK-4 suggest that vitamin K1 metabolism/catabolism could be altered in PXE patients.
SN 2296-858X
YR 2018
FD 2018-04-16
LK https://hdl.handle.net/10668/24482
UL https://hdl.handle.net/10668/24482
LA en
DS RISalud
RD Apr 5, 2025