Genetics of hereditary nephrotic syndrome: a clinical review / 소아과
Korean Journal of Pediatrics
;
: 55-63, 2017.
Article
in English
| WPRIM
| ID: wpr-197571
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Sclerosis
/
Wills
/
Glomerulosclerosis, Focal Segmental
/
Mass Screening
/
Genetic Techniques
/
Podocytes
/
Genetic Association Studies
/
Genetics
/
Nephrotic Syndrome
Type of study:
Screening study
Limits:
Humans
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2017
Type:
Article
Similar
MEDLINE
...
LILACS
LIS