Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndrome.
J Pediatr Endocrinol Metab
; 30(3): 365-369, 2017 Mar 01.
Article
en En
| MEDLINE
| ID: mdl-28222032
ABSTRACT
Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Here, we report a 17-year-old Turkish girl diagnosed with APECED at 9 years in whom a novel homozygote mutation in AIRE gene p.R15H (c.44G>A) was found. In the clinical course of the patient, chronic liver disease due to autoimmune hepatitis has evolved resulting in hepatopulmonary syndrome (HPS) which has not been reported before in patients with APECED.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Factores de Transcripción
/
Biomarcadores
/
Poliendocrinopatías Autoinmunes
/
Síndrome Hepatopulmonar
/
Cianosis
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2017
Tipo del documento:
Article