CFHR5 nephropathy

CFHR5 nephropathy' is a rare genetic kidney disease characterized by the presence of abnormal deposits of the protein CFHR5 in the kidneys. This condition is also known as CFHR5 glomerulopathy and is primarily observed in individuals of Cypriot descent.

Genetics

CFHR5 nephropathy is caused by mutations in the CFHR5 gene, which encodes the complement factor H-related protein 5. This protein plays a crucial role in the regulation of the complement system, a part of the immune system that helps clear pathogens from the body. Mutations in the CFHR5 gene lead to the abnormal function of the complement system, resulting in kidney damage.

Pathophysiology

The disease is characterized by the deposition of CFHR5 protein in the glomeruli of the kidneys. These deposits cause inflammation and damage to the glomeruli, leading to proteinuria (excess protein in the urine), hematuria (blood in the urine), and progressive loss of kidney function. Over time, this can result in chronic kidney disease and eventually end-stage renal disease.

Clinical Presentation

Patients with CFHR5 nephropathy typically present with symptoms such as:

• Hematuria
• Proteinuria
• Hypertension
• Reduced kidney function

The onset of symptoms can vary, but they often appear in childhood or early adulthood. The disease progresses at different rates in different individuals, with some developing severe kidney damage more rapidly than others.

Diagnosis

Diagnosis of CFHR5 nephropathy involves a combination of clinical evaluation, laboratory tests, and genetic testing. Key diagnostic steps include:

• Urinalysis to detect proteinuria and hematuria
• Blood tests to assess kidney function
• Genetic testing to identify mutations in the CFHR5 gene
• Kidney biopsy to examine the presence of CFHR5 deposits in the glomeruli

Treatment

There is currently no cure for CFHR5 nephropathy. Treatment focuses on managing symptoms and slowing the progression of the disease. Common treatment strategies include:

• Angiotensin-converting enzyme inhibitors (ACE inhibitors) or angiotensin II receptor blockers (ARBs) to control blood pressure and reduce proteinuria
• Immunosuppressive therapy in some cases
• Regular monitoring of kidney function
• Dialysis or kidney transplantation in advanced cases

Prognosis

The prognosis for individuals with CFHR5 nephropathy varies. Some patients may experience a slow progression of the disease with relatively stable kidney function for many years, while others may progress to end-stage renal disease more rapidly. Early diagnosis and appropriate management are crucial in improving outcomes.

See also

• Glomerulonephritis
• Complement system
• Chronic kidney disease
• End-stage renal disease

External links

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