title: Familial collapsing focal segmental glomerulosclerosis.
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.
authors.affiliation: Departments of Medicine and Division of Nephrology of Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: V
authors.initials: V
authors.lastname: Liakopoulos
authors.forename: A
authors.initials: A
authors.lastname: Huerta
authors.forename: S
authors.initials: S
authors.lastname: Cohen
authors.forename: M R
authors.initials: MR
authors.lastname: Pollak
authors.forename: R A
authors.initials: RA
authors.lastname: Sirota
authors.forename: K
authors.initials: K
authors.lastname: Superdock
authors.forename: G B
authors.initials: GB
authors.lastname: Appel
mesh_terms: D000328:Adult; D001706:Biopsy; D018450:Disease Progression; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree