Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease
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Fecha
2020
Autores
D’Marco, Luis
Lima-Martínez, Marcos
Karohl, Cristina
Chacín, Maricarmen
Bermúdez, Valmore
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Editor
Karger Publishers Open Access
Resumen
Background: Pseudoxanthoma elasticum (PXE; OMIM
264800) is an inherited multisystem disorder associated with
accumulation of mineralized and fragmented elastic fibers
in the skin, vascular walls, and brush membrane in the eye.
Carriers exhibit characteristic lesions in the cardiovascular
system, and peripheral and coronary arterial disease as well
as mitral valvulopathy often present as a cardiovascular feature of this disease. PXE and chronic kidney disease (CKD)
share some common patterns in the vascular damage and in
therapeutic approaches as well. Summary: To date, treating
PXE has focused more on careful follow-up examinations
with retinal specialists and cardiologist, avoiding long-term
anticoagulation. Like CKD, maintaining a low-calcium diet,
increasing dietary magnesium, and administering phosphate binders such as aluminum hydroxide or sevelamer
may yield a modest benefit. Recently, 4-phenylbutyrate acid
(4-PBA) has demonstrated a maturation of ABCC6 mutant effects into the plasma membrane. Moreover, in a humanized
mouse model of PXE, 4-PBA administration restored the physiological function of ABCC6 mutants, resulting in enhanced calcification inhibition and thus a promising strategy
for allele-specific therapy of ABCC6-associated calcification
disorders. Key Message: Vascular compromise in PXE patients share some components similar to CKD.
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Palabras clave
Pseudoxanthoma elasticum, Chronic kidney disease, Vascular calcification, Hydroxyapatite