Clinical and pathologic features of familial focal segmental glomerulosclerosis

Conlon, Peter J.; Butterly, David W.; Albers, Frank J.; Rodby, Roger A.; Gunnells, J. Caulie; Howell, David N.

doi:10.1016/0272-6386(95)90150-7

Cited by 60 publications

(28 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It may be caused or modified by genetic factors, since incidence and prognosis of FSGS vary considerably according to ethnicity [5]and since there are familial forms of FSGS [6]. The angiotensin-converting enzyme (ACE) gene has been investigated as one of the genetic factors which may affect the progression of a variety of renal diseases [7, 8, 9].…”

Section: Introductionmentioning

confidence: 99%

Significance of ACE Genotypes and Medical Treatments in Childhood Focal Glomerulosclerosis

Hori

Hiraoka

Yoshikawa

et al. 2001

Nephron

View full text Add to dashboard Cite

Backtround: There is little information on the significance of angiotensin-converting enzyme (ACE) genotypes and medical treatments in children with primary focal segmental glomerulosclerosis (FSGS). Methods: A multicenter retrospective study was performed on the role of ACE genotypes and medical treatments in 43 Japanese children with FSGS (20 males and 23 females), including 17 children who progressed to end-stage renal failure during the mean observation period of 6.9 ± (SD) 5.0 years. Results: The incidence of the D allele of the ACE gene was higher in the whole group of 43 children with FSGS and in a subgroup of 28 steroid-resistant FSGS children (p < 0.05) than in the 130 children of the healthy control group (0.48, 0.48, and 0.33, respectively). ACE genotypes did not affect renal survival in the whole FSGS group nor in the steroid-resistant subgroup. Among the 28 steroid-resistant children, treatment with ciclosporin was effective in delaying the development of end-stage renal failure (p = 0.044), independently of other treatment regimens. Conclusion: The present study of Japanese children with FSGS showed that the D allele of the ACE gene is associated with the development of FSGS, but not associated with the progression of FSGS which was greatly ameliorated with ciclosporin, irrespective of ACE genotypes.

show abstract

Section: Introductionmentioning

confidence: 99%

Significance of ACE Genotypes and Medical Treatments in Childhood Focal Glomerulosclerosis

Hori

Hiraoka

Yoshikawa

et al. 2001

Nephron

View full text Add to dashboard Cite

show abstract

“…In the last category, both autosomal recessive and dominant inheritance patterns have been reported (Conlon et al, 1995;Winn et al, 1997). Advances in molecular genetics technology and mapping, including highthroughput genotyping for genomic screening, provide powerful tools for the analysis of renal diseases.…”

Section: Introductionmentioning

confidence: 99%

Linkage of a Gene Causing Familial Focal Segmental Glomerulosclerosis to Chromosome 11 and Further Evidence of Genetic Heterogeneity

et al. 1999

Self Cite

View full text Add to dashboard Cite

“…FSGS is a significant cause of end-stage renal disease (ESRD), comprising up to 5% of adults and 20% of children with ESRD (2,3). The clinical hallmarks of FSGS routinely include proteinuria, hypertension, and the progression to ESRD.…”

mentioning

confidence: 99%

Focal and Segmental Glomerulosclerosis in Mice with Podocyte-Specific Expression of Mutant α-Actinin-4

Michaud

Lemieux²,

Dubé

et al. 2003

Journal of the American Society of Nephrology

144

124

View full text Add to dashboard Cite

Abstract. Mutations in the gene encoding ␣-actinin-4 (ACTN4), an actin crosslinking protein, are associated with a form of autosomal dominant focal segmental glomerulosclerosis (FSGS). To better study its progression, a transgenic mouse model was developed by expressing murine ␣-actinin-4 containing a mutation analogous to that affecting a human FSGS family in a podocyte-specific manner using the murine nephrin promoter. Consistent with human ACTN4-associated FSGS, which shows incomplete penetrance, a proportion of the transgenic mice exhibited significant albuminuria (8 of 18), while the overall average systolic BP was elevated in both proteinuric and non-proteinuric ACTN4-mutant mice. Immunofluorescence confirmed podocyte-specific expression of mutant ␣-actinin-4, and real-time RT-PCR revealed that HA-ACTN4 mRNA levels were higher in proteinuric versus non-proteinuric ACTN4-mutant mice. Only proteinuric mice exhibited histologic features consistent with human ACTN4-associated FSGS, including segmental sclerosis and tuft adhesion of some glomeruli, tubular dilatation, mesangial matrix expansion, as well as regions of podocyte vacuolization and foot process fusion. Consistent with such podocyte damage, proteinuric ACTN4-mutant kidneys exhibited significantly reduced mRNA and protein levels of the slit diaphragm component, nephrin. This newly developed mouse model of human ACTN4-associated FSGS suggests a cause-and-effect relationship between actin cytoskeleton dysregulation by mutant ␣-actinin-4 and the deterioration of the nephrin-supported slit diaphragm complex.

show abstract

Clinical and pathologic features of familial focal segmental glomerulosclerosis

Cited by 60 publications

References 9 publications

Significance of ACE Genotypes and Medical Treatments in Childhood Focal Glomerulosclerosis

Significance of ACE Genotypes and Medical Treatments in Childhood Focal Glomerulosclerosis

Linkage of a Gene Causing Familial Focal Segmental Glomerulosclerosis to Chromosome 11 and Further Evidence of Genetic Heterogeneity

Focal and Segmental Glomerulosclerosis in Mice with Podocyte-Specific Expression of Mutant α-Actinin-4

Contact Info

Product

Resources

About