Familial collapsing focal segmental glomerulosclerosis.
Clin Nephrol
; 75(4): 362-8, 2011 Apr.
Article
in En
| MEDLINE
| ID: mdl-21426891
ABSTRACT
The majority of patients with non-HIV-related collapsing focal segmental glomerular sclerosis (FSGS) have idiopathic disease. Only a few genetic forms associated with rare syndromes have been described in families. Here we report two families with multiple members who have collapsing FSGS with no clear associated secondary etiology. Genetic analysis revealed a defect in the TRPC6 gene in one family, but excluded all known common inherited podocyte defects in the other family. The course and response to treatment differed dramatically among members of the same family.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Glomerulosclerosis, Focal Segmental
Type of study:
Diagnostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Clin Nephrol
Year:
2011
Document type:
Article
Affiliation country: