NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia.
Circ J
; 84(7): 1183-1188, 2020 06 25.
Article
en En
| MEDLINE
| ID: mdl-32522903
ABSTRACT
BACKGROUND:
NT5Egenetic mutations are known to result in calcification of joints and arteries (CALJA), and worldwide, 14 patients from 7 families have been reported.MethodsâandâResults:
A total of 5 patients from 2 independent families with CALJA were found in Japan. Of them, 3 complained of intermittent claudication (IC), and 1 suffered from bilateral chronic limb-threatening ischemia (CLTI). Whole-exome sequencing analysis revealed an identical mutation pattern (c.G3C on the exon 1 start codon) that was unique compared withNT5Emutations reported in other countries.CONCLUSIONS:
Vascular specialists need to recognize CALJA as a rare cause of ischemic IC and CLTI.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades Vasculares
/
Calcinosis
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5'-Nucleotidasa
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Calcificación Vascular
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Claudicación Intermitente
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Isquemia
/
Artropatías
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Aged
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Aged80
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Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Circ J
Asunto de la revista:
ANGIOLOGIA
/
CARDIOLOGIA
Año:
2020
Tipo del documento:
Article