Abstract
Complement factor H-related protein 5 (CFHR5) nephropathy is a familial renal disease endemic in Cyprus. It is characterized by persistent microscopic hematuria, synpharyngitic macroscopic hematuria and progressive renal impairment. Isolated glomerular accumulation of complement component 3 (C3) is typical with variable degrees of glomerular inflammation. Affected individuals have a heterozygous internal duplication in the CFHR5 gene, although the mechanism through which this mutation results in renal disease is not understood. Notably, the risk of progressive renal failure in this condition is higher in males than females. We report the first documented case of recurrence of CFHR5 nephropathy in a renal transplant in a 53-year-old Cypriot male. Strikingly, histological changes of CFHR5 nephropathy were evident in the donor kidney 46 days post-transplantation. This unique case demonstrates that renal-derived CFHR5 protein cannot prevent the development of CFHR5 nephropathy.
Highlights
Complement dysregulation is associated with several distinct patterns of glomerular pathology
Mutations in complement factor H, cluster of differentiation 46 (CD46) and factor I were identified among patients with biopsy-proven C3 glomerulonephritis (C3GN) [2], but complement factor H-related protein 5 (CFHR5) nephropathy is the first description of C3GN associated with a mutation in the CFHR5 gene
We report the case of a 53-year-old gentleman with end-stage renal failure (ESRF) secondary to CFHR5 nephropathy, who underwent renal transplantation from a deceased donor and was found to have evidence of disease recurrence in a transplant biopsy 46 days later
Summary
Complement dysregulation is associated with several distinct patterns of glomerular pathology. A previously healthy British male with Cypriot ancestry was referred at the age of 36 with persistent microscopic hematuria, episodes of macroscopic hematuria coinciding with upper respiratory tract symptoms, and renal impairment (serum creatinine 178 lmol/L) He was not aware of any family history of renal disease at that time relatives with CFHR5 nephropathy have subsequently been identified. Immunosuppression included alemtuzumab and corticosteroids peri-operatively, with tacrolimus monotherapy continued at discharge His renal function initially improved, his creatinine stabilized at 186 lmol/L, and in the presence of persistent microscopic hematuria and following a single episode of macroscopic hematuria (with a urine protein: creatinine ratio of 56 mg/mmol), he underwent a renal transplant biopsy, 46 days after transplantation (Figure 2). American Journal of Transplantation 2011; 11: 152–155 and serum CFHR5 western blot analysis (Figure 3) revealed the presence of the heterozygous internal duplication in the CFHR5 gene, confirming the diagnosis of CFHR5 nephropathy
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
