CFHR5 nephropathy

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CFHR5 nephropathy is a rare, genetic disorder characterized by the complement factor H-related protein 5 (CFHR5) mutation, leading to a form of glomerulonephritis, which is an inflammation of the glomeruli in the kidney. This condition is significant because it highlights the role of the alternative complement pathway in renal disease. CFHR5 nephropathy is primarily reported in individuals of Cypriot descent but can occur in other populations as well.

Etiology

CFHR5 nephropathy is caused by a mutation in the CFHR5 gene. This gene plays a crucial role in the regulation of the complement system, which is a part of the innate immune system that enhances the ability of antibodies and phagocytic cells to clear pathogens from an organism. The mutation leads to the production of a dysfunctional CFHR5 protein, which fails to regulate the complement pathway properly. This dysregulation results in the accumulation of complement components in the glomeruli, causing damage and inflammation.

Clinical Presentation

Individuals with CFHR5 nephropathy typically present with microscopic hematuria (blood in the urine), which may be intermittent or persistent. Proteinuria (excess protein in the urine) of varying degrees is also common, and in some cases, patients may develop nephrotic syndrome, characterized by severe proteinuria, hypoalbuminemia (low levels of albumin in the blood), and edema. The progression to end-stage renal disease (ESRD) can occur but is variable among individuals.

Diagnosis

The diagnosis of CFHR5 nephropathy involves a combination of clinical assessment, laboratory testing, and genetic analysis. Urinalysis is used to detect hematuria and proteinuria. Kidney function tests, including serum creatinine and urea levels, assess the extent of kidney damage. Genetic testing for mutations in the CFHR5 gene confirms the diagnosis. Kidney biopsy may also be performed to evaluate the extent of glomerular damage and to rule out other causes of glomerulonephritis.

Treatment

There is no specific treatment for CFHR5 nephropathy. Management focuses on controlling symptoms and preventing the progression of kidney disease. This may include the use of angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARBs) to reduce proteinuria and control blood pressure. Immunosuppressive therapy is not typically effective, given the genetic nature of the disease. In cases of ESRD, dialysis or kidney transplantation may be necessary.

Prognosis

The prognosis of CFHR5 nephropathy varies. Some individuals may have a relatively benign course with minimal kidney dysfunction, while others progress to ESRD. Early detection and management of symptoms are crucial in preventing or slowing the progression of kidney damage.

Epidemiology

CFHR5 nephropathy is most commonly reported in individuals of Cypriot descent, suggesting a founder effect in this population. However, cases have been identified in other ethnic groups, indicating that the disease may be underdiagnosed in the general population.

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