Contribution of functional and quantitative genetic variants of Complement Factor H and Factor H-Related (FHR) proteins on renal pathology

Delgado, Irene Gómez; Sánchez-Corral, Pilar

doi:10.1016/j.nefroe.2022.09.002

Cited by 1 publication

(1 citation statement)

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“…This is the most common structural change in the CFH gene cluster and is associated with the development of anti-CFH autoantibodies [ 4 ]. Anti-CFH antibodies are present in 20% of atypical hemolytic-uremic syndrome (aHUS) cases [ 5 ], and, in total, 80% of aHUS patients who develop anti-FH autoantibodies are homozygous for this variant [ 6 ]. This patient had no features of thrombotic microangiopathy, either systemic or on kidney biopsy.…”

Section: Discussionmentioning

confidence: 99%

C3 Glomerulonephritis Presenting With Nephritic and Nephrotic Syndromes: Spontaneous Remission After Six Months on Dialysis

Gonçalves,

Marques,

Silva

et al. 2023

Cureus

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C3 glomerulopathy is a rare and complex renal disease driven by complement dysregulation, with variable presentation and pathophysiology. We report the case of a middle-aged male patient presenting with nephritic and nephrotic syndromes and low serum C3, whose biopsy established the diagnosis of C3 glomerulonephritis. He was found to be homozygous for the complement factor H-related protein (CFHR)3-CFHR1 deletion, which has been associated with the development of anti-factor H autoantibodies. However, the lack of consistent and accessible nephritic factor assays prevented full clarification of the mechanisms involved in the disease. Interestingly, despite not receiving treatment due to suspicion of malignancy and perceived poor renal prognosis, there was spontaneous recovery after six months on hemodialysis. This case reflects the enduring challenges in establishing the diagnosis and prognosis of C3 glomerulonephritis.

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Section: Discussionmentioning

confidence: 99%