Successful liver transplantation in short telomere syndromes without bone marrow failure due to DKC1 mutation.
Pediatr Transplant
; 24(3): e13695, 2020 05.
Article
en En
| MEDLINE
| ID: mdl-32166868
ABSTRACT
Short telomere syndromes are a heterogenous spectrum of disorders leading to premature cellular aging. These may involve bone marrow failure, adult-onset idiopathic pulmonary fibrosis, and liver disease, and classical entities such as dyskeratosis congenita. We report a patient who presented with common variable immunodeficiency at 3 years of age and autoimmune cytopenias at 8 years of age. He was found to have short telomeres, and genetic testing confirmed a hemizygous mutation NM_001363.4 c.-142C > G in DKC1 gene. He subsequently developed cirrhosis with severe portal hypertension and hepatopulmonary syndrome, prompting liver transplantation at 11 years of age. He remains well 10 years after transplant with no progression of bone marrow failure or progressive lung disease. In conclusion, short telomere syndromes should be considered as a potential cause of pediatric liver disease of unknown etiology, and in severe cases, isolated liver transplantation may be both appropriate and successful.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Proteínas Nucleares
/
Trasplante de Hígado
/
Proteínas de Ciclo Celular
/
Acortamiento del Telómero
/
Fallo Renal Crónico
/
Mutación
Tipo de estudio:
Etiology_studies
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Transplant
Asunto de la revista:
PEDIATRIA
/
TRANSPLANTE
Año:
2020
Tipo del documento:
Article
País de afiliación:
España