Familial collapsing focal segmental glomerulosclerosis

被引：17
作者：
Liakopoulos, V. [4 ]
Huerta, A. [1 ]
Cohen, S. [1 ]
Pollak, M. R. [5 ]
Sirota, R. A. [2 ]
Superdock, K. [3 ]
Appel, G. B. [1 ]
机构：
[1] Columbia Univ Coll Phys & Surg, Dept Med, Div Nephrol, New York, NY 10032 USA
[2] Abington Mem Hosp, Abington, PA 19001 USA
[3] Lankenau Hosp, Wynnewood, PA USA
[4] Univ Thessaloniki, GR-54006 Thessaloniki, Greece
[5] Harvard Univ, Sch Med, Boston, MA USA
来源：
CLINICAL NEPHROLOGY | 2011年 / 75卷 / 04期
关键词：
focal glomerulosclerosis; collapsing; glomerulopathy; hereditary glomerulonephropathy; RENAL-FUNCTION; GLOMERULOPATHY; ALPHA-ACTININ-4; ASSOCIATION; INFECTION; VARIANTS; DISEASES; THERAPY; ACTN4; HIV;
D O I：
10.5414/CN106544
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
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.
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收藏
页码：362 / 368
页数：7
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