Disorders of sex development and Diamond-Blackfan anemia: is there an association?
Pediatr Nephrol
; 25(7): 1255-61, 2010 Jul.
Article
en En
| MEDLINE
| ID: mdl-20358230
ABSTRACT
Diamond-Blackfan anemia (DBA) is a rare disorder characterized by congenital pure red cell aplasia. Mutations in ribosomal protein S19 (RPS19) have been identified in 25% of DBA patients. More recently, mutations in other ribosomal protein genes, namely RPS7, RPS15, RPS24, RPS17, RPS27A, RPL35a, RPL36, RPL11, and RPL5, have also been found in patients with DBA. Approximately 30-40% of affected patients have various associated physical anomalies, mostly craniofacial and at the extremities, but also cardiac or urogenital malformations. Anomalies of the urogenital tract in DBA patients comprise changes in the kidney (dysplasia, agenesis, duplication, horseshoe kidney) and genitalia (hypospadias). To date, disorders of sex development (DSD) have only been described once in association with DBA. We report here four DBA patients who exhibited DSD.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Ribosómicas
/
Trastornos del Desarrollo Sexual
/
Anemia de Diamond-Blackfan
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Pediatr Nephrol
Asunto de la revista:
NEFROLOGIA
/
PEDIATRIA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Alemania