Familial Focal Glomerulosclerosis: A Genetic Linkage to the HLA Locus?

Goodman, D.J.; Clarke, Bernice; Hope, Robert N.; Miach, P. J.; Dawborn, J. K.

doi:10.1159/000168881

Cited by 17 publications

(6 citation statements)

References 7 publications

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“…Scolini et al [7]reported the linkage between familial IgM nephropathy and HLA antigen and they suggested that genetic factors might be in involved in the mechanism of IgM nephropathy. Various studies have suggested a relationship between familial FSGS and HLA antigens such as HLA DR4, HLA DRw3, HLA DRw5, and HLA DRw8 [18, 19]. However, neither of our patients indicated any association with these HLA antigens.…”

Section: Discussioncontrasting

confidence: 82%

Discordant Evolution of Asymptomatic Proteinuria in Identical Twins

Kim

Oh²,

Lee³

et al. 1999

Nephron

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We describe a pair of 17-year-old identical twin brothers with asymptomatic proteinuria, one of whom showed focal segmental glomerulosclerosis (FSGS) while the other showed immunoglobulin M (IgM) nephropathy. For each twin, audiological examination was normal. There was no family history of renal failure, deafness, or hematuria. HLA typing revealed an identical phenotype consisting of A25, A33, B44, B54, Cw1, Cw7, DR7 and DRB1. There is still controversy about whether minimal change disease, IgM nephropathy, and FSGS are discrete entities or different aspects of the same disease. The coexistence of IgM nephropathy and FSGS in identical twins suggests that the same genetic factors may be involved in the development of both diseases. However, although the brothers are identical twins, they had different eating habits and body weight. The twin who preferred to eat a protein-rich diet and who was heavier developed early proteinuria and manifested FSGS on renal biopsy. The discordant evolution of asymptomatic proteinuria in identical twins may provide a clue for the existence of environmental factors on the progression from IgM nephropathy to FSGS. Therefore, this report provides indirect support for the hypothesis that IgM nephropathy and FSGS represent different aspects in the spectrum of a single disease.

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Section: Discussioncontrasting

confidence: 82%

Discordant Evolution of Asymptomatic Proteinuria in Identical Twins

Kim

Oh²,

Lee³

et al. 1999

Nephron

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“…The disorder in this present family may be a possible fourth syndrome or another autosomal recessive syndrome. Familial forms of FSGS that exhibit autosomal recessive or dominant modes of inheritance have been described [14][15][16][17]. The autosomal recessive form of FSGS is generally more severe, and patients present at an earlier age than those with the autosomal dominant form.…”

Section: Discussionmentioning

confidence: 99%

Another autosomal recessive form of focal glomerulosclerosis with neurological findings

Nakazato¹,

Hattori

Karashima³

et al. 2002

Pediatric Nephrology

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We report four patients in a consanguineous family with focal segmental glomerulosclerosis (FSGS), early onset nephrotic syndrome, eventual end-stage renal failure, psychomotor retardation, seizures and microcephaly or brain atrophy without hiatus hernia. Other characteristic dysmorphic features were convergent strabismus and narrow forehead. One patient had enamel hypoplasia of the upper incisors and deviation of bilateral thumbs to palm side. We could not detect an NPHS2 mutation in this family. We propose that this may be another autosomal recessive syndrome with FSGS and neurological findings.

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“…In the pathogenesis of glomerulonephritis, abnormal response of cell‐mediated immunity was reported in some glomerular diseases such as immunoglobulin A (IgA) nephropathy and minimal change disease (7, 8). There have been many reports about HLA associations with various primary and secondary glomerulonephritis, such as nephrotic syndrome (HLA‐DR7), focal and segmental glomerulosclerosis (HLA‐A1, B8, DR3, and DR7), membranous nephropathy (HLA‐DR3 and DR5), and IgA nephropathy (HLA‐B27, DR1, and DR2) (9–12). So, it was suggested that HLA might also be involved in the pathogenesis of HBV‐GN.…”

mentioning

confidence: 99%

Two subtypes of hepatitis B virus‐associated glomerulonephritis are associated with different HLA‐DR2 alleles in Koreans

et al. 2003

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Hepatitis B virus (HBV)-associated glomerulonephritis (HBV-GN) is occurring at high prevalence in most Asian endemic areas. There have been some reports on human leucocyte antigen (HLA) associations with HBV infections; however, HLA association with HBV-GN has been rarely reported. Forty-six adult Korean patients with HBV-GN (42 male and four female patients, age 20-66), 100 HBsAg (-) healthy controls, and 89 individuals with chronic HBV infection were studied for HLA-DRB1 and DQB1 gene polymorphisms using high-resolution DNA typing methods. In HBV-GN patients, a strong association with HLA-DR2 was observed compared with HBsAg (-) controls (OR = 4.0). Different HLA-DR2 alleles were associated with different pathologic subtypes of HBV-GN: DRB1*1502 with membranoproliferative glomerulonephritis (MPGN, n = 35) (OR = 14.5) and DRB1*1501 with membranous nephropathy (MN, n = 11) (OR = 3.8). HLA-DQB1*0601, strongly linked to DRB1*1502, was also associated with MPGN subtype of HBV-GN (OR = 4.3). All these associations were also significant compared with chronic HBV infection group. For chronic HBV infection per se, DRB1*1302, DQB1*0402, and DQB1*0604 had some protective effect (OR = 0.4, OR = 0.3, and OR = 0.1, respectively), and DRB1*1101 was weakly associated (OR = 4.6) in Koreans. These results suggest that HLA-DR or related genetic factor is associated with disease susceptibility to HBV-GN in Koreans, and different pathologic subtypes of HBV-GN are influenced by the genetic factors of the patients.

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Familial Focal Glomerulosclerosis: A Genetic Linkage to the HLA Locus?

Cited by 17 publications

References 7 publications

Discordant Evolution of Asymptomatic Proteinuria in Identical Twins

Discordant Evolution of Asymptomatic Proteinuria in Identical Twins

Another autosomal recessive form of focal glomerulosclerosis with neurological findings

Two subtypes of hepatitis B virus‐associated glomerulonephritis are associated with different HLA‐DR2 alleles in Koreans

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