Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

CFHR5 Nephropathy

CFHR5 deficiency is a dominant disorder caused by mutations of the CFHR5 gene. Patients can develop a glomerulonephritis caused by complement factor 3 dysregulation.

Epidemiology

The disorder was first detected in Cyprus where the frequency of a specific mutation is between 1:5000 and 1:8000. Probably a founder exists.

Clinical Findings

Presentation

Microscopic hematuria is the first symptom that can develop into macroscopic hematuria following upper respiratory tract infections. C3 and C4 levels are usually normal and C3 nephritic factor is not detectable.

Clinical course

Adolescents can develop hypertension and proteinuria that rarely develops into nephrotic range. End stage renal failure is more common in men.

Management

No specific therapy is available. Symptomatic therapy includes control of blood pressure control, ACE inhibitors preferentially, and cardiovascular risk factors, mostly nicotine abuse.

Symptoms

Hematuria
Microscopic hematuria is an early symptom. It can become macroscopic after respiratory infections.
Hypertension
Hypertension develops after hematuria with adolescent age.
Proteinuria
Proteinuria becomes apparent in young adults often accompanied by hypertension.

Systematic

Glomerulonephritis
C3 glomerulopathy
CFHR5 Nephropathy
CFHR5
Goodpasture syndrome
Lupus erythematosus nephritis
Membranoproliferative glomerulonephritis (MPGN)
Membranous nephropathy
Mesangioproliferative glomerulonephritis

References:

1.

Gale DP et al. (2010) Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.

[^]
2.

Karumanchi SA et al. (2010) A complement to kidney disease: CFHR5 nephropathy.

[^]
3.

Vernon KA et al. (2012) Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor H-related protein 5 deficiency.

[^]