Autoimmune Nephropathy (AN) panel [52 genes]

Autoimmune nephropathies include disorders that are caused by immune responses against kidney structures, producing glomerulonephritis, membranous nephropathy o glomerular sclerosis, among other presentations. There have been described both intrinsic genetic predisposition and external factors in the pathogenesis of AN, including genetic hereditary defects, exposition to proinflammatory agents, constitutive activation of complement system, autoinflammatory response and adaptive immunity alteration. There are two major autoimmune nephropathies, primary membranous nephropathy (pMN), characterized by subepithelium IgG immune-complexes presence and C3 factor deposits into the peripheral capillary of the glomeruli; and immunoglobulin A nephropathy (IgAN) or Berger’s disease, characterized by IgA deposits affecting the mesangial area of the glomeruli.

Clinical features

  • Membranous glomerulopathy
  • Nephritis
  • Hematuria
  • Renal failure
  • Immune Complexes deposits
  • Autoantibody presence
  • C3 nephritic factor positive
  • Galactose-deficient IgA

Prevalence

  • IgAN. ~1:50,000
  • pMN. ~1:100,000

Service benefits and management

  • Immunosuppressive and immunomodulators
  • Renin-angiotensin blockers
  • Corticosteroids
  • Genetic counselling
  • Accurate diagnosis and phenotype-genotype correlation

APOL1, BLK, C1QA, C1QB, C1QC, C1R, C1S, C3, C4A, C4B, CARD9, CASP10, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, CTLA4, DNASE1, DNASE1L3, ETS1, FAS, FASLG, FCGR2A, FCGR2B, HAS2, IRF5, ITGAM, KIRREL2, MBL2, MME, MTMR3, MYH9, NPHS1, PDGFRA, PLA2R1, PTEN, PTPN22, STAT1, STAT4, THBD, THBS1, THSD7A, TLR5, TNFAIP3, TNFRSF4, TNFSF4, TNIP1, UBE2L3

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