Familial collapsing focal segmental glomerulosclerosis
Collapsing; Focal glomerulosclerosis; Glomerulopathy; Hereditary glomerulonephropathy
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 memberswho 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. © 2011 Dustri-Verlag Dr. K. Feistle.
Liakopoulos, V., Huerta, A., Cohen, S., Pollak, M., Sirota, R., Superdock, K., & Appel, G. (2011). Familial collapsing focal segmental glomerulosclerosis. Clinical Nephrology, 75 (4). http://dx.doi.org/10.5414/CN106544