Genetics of hereditary nephrotic syndrome: a clinical review / 소아과
Korean Journal of Pediatrics
; : 55-63, 2017.
Article
en En
| WPRIM
| ID: wpr-197571
Biblioteca responsable:
WPRO
ABSTRACT
Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been identified in patients with hereditary SRNS. Genetic mutations on structural and functional molecules in podocytes can lead to serious injury in the podocytes themselves and in adjacent structures, causing sclerotic lesions such as focal segmental glomerulosclerosis or diffuse mesangial sclerosis. This paper provides an update on the current knowledge of podocyte genes involved in the development of hereditary nephrotic syndrome and, thereby, reviews genotype-phenotype correlations to propose an approach for appropriate mutational screening based on clinical aspects.
Palabras clave
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Esclerosis
/
Testamentos
/
Glomeruloesclerosis Focal y Segmentaria
/
Tamizaje Masivo
/
Técnicas Genéticas
/
Podocitos
/
Estudios de Asociación Genética
/
Genética
/
Síndrome Nefrótico
Tipo de estudio:
Screening_studies
Límite:
Humans
Idioma:
En
Revista:
Korean Journal of Pediatrics
Año:
2017
Tipo del documento:
Article