Genetics of hereditary nephrotic syndrome: a clinical review / 소아과
Korean Journal of Pediatrics
; : 55-63, 2017.
Article
em En
| WPRIM
| ID: wpr-197571
Biblioteca responsável:
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Esclerose
/
Testamentos
/
Glomerulosclerose Segmentar e Focal
/
Programas de Rastreamento
/
Técnicas Genéticas
/
Podócitos
/
Estudos de Associação Genética
/
Genética
/
Síndrome Nefrótica
Tipo de estudo:
Screening_studies
Limite:
Humans
Idioma:
En
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2017
Tipo de documento:
Article