Association of Alport's syndrome with HLA-DR2 antigen in a group of unrelated patients

Donadi, Eduardo Antônio; Voltarelli, Júlio César; Paula-Santos, Cássia M.; Kimachi, Tatsuto; Ferraz, Alexsander

doi:10.1590/s0100-879x1998000400010

Cited by 3 publications

(1 citation statement)

References 8 publications

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“…Most cases of Alport syndrome arise from X-linked inheritance of COL4A5 mutations, with other cases resulting from autosomal inheritance of mutations in COL4A3 and COL4A4 on chromosome 2 42 . Two groups have evaluated HLA in Alport syndrome and found associations with HLA-DR2 and HLA-DRB1*16 157,158 . However, the underlying mechanism for HLA associations in this essentially non-immune disease remains unexplained.…”

Section: Alport Syndromementioning

confidence: 99%

HLA and kidney disease: from associations to mechanisms

et al. 2018

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Since the first association between HLA and diseases of native kidneys was described almost 50 years ago, technological and conceptual advances in HLA biology and typing, together with better case ascertainment, have led to an improved understanding of HLA associations with a variety of renal diseases. A substantial body of evidence now supports the existence of HLA genetic associations in the field of renal disease beyond the role of HLA in allogeneic responses in transplant recipients. Allomorphs of HLA have emerged as important risk factors in most immune-mediated renal diseases, which, together with other genetic and environmental factors, lead to loss of tolerance and autoimmune-mediated renal inflammation. HLA associations have also been described for renal diseases that are less traditionally seen as autoimmune or immune-mediated. Here, we review essential concepts in HLA biology and the association of HLA with diseases of the native kidneys, and describe the current understanding of the epistatic and mechanistic bases of HLA-associated kidney disease. Greater understanding of the relationship between HLA and kidney function has the potential not only to further the understanding of immune renal disease at a fundamental level but also to lead to the development and application of more effective, specific and less toxic therapies for kidney diseases.

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Section: Alport Syndromementioning

confidence: 99%

HLA and kidney disease: from associations to mechanisms

et al. 2018

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Alport syndrome: HLA association and kidney graft outcome

Barocci¹,

Fiordoro²,

Santori³

et al. 2004

European Journal of Immunogenetics

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Alport syndrome (AS) is a genetic disease of type IV collagen involving non-homogeneous patterns of inheritance characterized clinically by the presence of progressive haematuric nephritis leading to end-stage renal disease (ESRD), hearing loss and/or ophthalmologic abnormalities. The aim of this study was to investigate, in a cohort of AS patients who had undergone a kidney graft (KG) or who were still on a waiting list for a KG, (a) whether there is a correlation between AS and HLA antigen expression, and (b) long-term graft outcome in transplant patients. The AS cohort was represented by 34 ESRD patients, of whom 25 received a KG and the remaining nine were still on a waiting list. AS transplant patients represented 2.78% of 899 first KGs performed at our centre (Transplantation Department at S. Martino Hospital, Genoa) between 1983 and 2002. Grafts were procured from cadaveric donors in 18 cases and from living, related donors in seven cases. All AS transplant patients had a post-transplant follow-up period of at least 12 months. Results showed that: (i) the frequency of the HLA-DRB1*16 antigen was significantly increased in the whole AS cohort as compared to 128 healthy subjects (HS) (corrected P-value 0.0026; relative risk 7.20) as well as to 232 non-AS ESRD patients on a waiting list for KG (corrected P-values 0.0156; relative risk 4.67); (ii) 5- and 10-year graft survivals in the AS transplant patients were 80 and 73%, respectively, and did not differ from those of a control group represented by 25 non-AS KG recipients matched for sex, age, number of HLA mismatches and immunosuppressive treatment. Increased frequency of HLA-DRB1*16 in AS patients may reflect a linkage disequilibrium with genes coding for collagen synthesis.

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Como entender a nomenclatura e os mecanismos de associação entre os antígenos e os alelos de histocompatibildade com as doenças

Donadi

2000

Medicina (Ribeirão Preto)

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RESUMO: Devido ao elevado grau de polimorfismo das moléculas e genes do Complexo Principal de Histocompatibilidade e às grandes mudanças ocorridas, recentemente, nos métodos de tipificação desses marcadores, tem havido muita confusão para o não especialista, em relação ao entendimento da nomenclatura do sistema. Além disso, devido ao crescente conhecimento acerca do papel das moléculas de histocompatibilidade na função imune, os mecanismos de associação das moléculas HLA com as doenças ainda constituem tópicos bastante complexos. Esta revisão abrange esses aspectos, tentando facilitar o entendimento da nomenclatura e a relevância desses marcadores imunogenéticos na determinação de susceptibilidade ou resistência às doenças.

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Association of Alport's syndrome with HLA-DR2 antigen in a group of unrelated patients

Cited by 3 publications

References 8 publications

HLA and kidney disease: from associations to mechanisms

HLA and kidney disease: from associations to mechanisms

Alport syndrome: HLA association and kidney graft outcome

Como entender a nomenclatura e os mecanismos de associação entre os antígenos e os alelos de histocompatibildade com as doenças

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