Autosomal Dominant Polycystic Kidney Desease Coexisting with Renal Dysplasia. First Case Described and Followed Since Prenatal Period
Childhood Kidney Diseases
;
: 28-30, 2018.
Artículo
en Inglés
| WPRIM
| ID: wpr-739185
ABSTRACT
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and causes terminal chronic renal failure. ADPKD is characterized by bilateral multiple renal cysts, which are produced by mutations of the PKD1 and PKD2 genes. PKD1 is located on chromosome 16 and encodes a protein that is involved in cell cycle regulation and intracellular calcium transport in epithelial cells and is responsible for 85% of ADPKD cases. Although nine cases of unilateral ADPKD with contralateral kidney agenesis have been reported, there have been no reports of early childhood ADPKD. Here, we report the only case of unilateral ADPKD with contralateral kidney dysplasia in the world in a four year-old girl who was intrauterinely diagnosed since she was 20 weeks old and followed for four years until present.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Cromosomas Humanos Par 16
/
Ciclo Celular
/
Calcio
/
Riñón Poliquístico Autosómico Dominante
/
Células Epiteliales
/
Riñón
/
Fallo Renal Crónico
/
Enfermedades Renales Poliquísticas
Límite:
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Childhood Kidney Diseases
Año:
2018
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS