Familial renal amyloidosis

Familial renal amyloidosis is a rare genetic disorder characterized by the deposition of abnormal proteins, known as amyloid, in the kidneys. This condition is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the disorder to each of their offspring. Familial renal amyloidosis is a form of hereditary amyloidosis, which also includes familial transthyretin amyloidosis and familial apolipoprotein A-I amyloidosis.

Etiology

Familial renal amyloidosis is caused by mutations in the genes encoding fibrinogen alpha chain (FGA), apolipoprotein A-II (APOA2), or lysozyme (LYZ). These mutations lead to the production of abnormal proteins that can form amyloid fibrils, which are deposited in the kidneys.

Clinical Presentation

The clinical presentation of familial renal amyloidosis is variable, but typically includes proteinuria, nephrotic syndrome, and progressive renal failure. Other symptoms may include hypertension, edema, and fatigue. The age of onset and rate of disease progression can vary widely, even within the same family.

Diagnosis

The diagnosis of familial renal amyloidosis is based on the presence of amyloid in kidney biopsy specimens, along with a family history of renal disease. Genetic testing can confirm the diagnosis and identify the specific gene mutation.

Treatment

There is currently no cure for familial renal amyloidosis. Treatment is aimed at managing symptoms and slowing the progression of kidney disease. This may include medications to control blood pressure and reduce proteinuria, as well as dietary modifications. In advanced cases, dialysis or kidney transplantation may be necessary.

Prognosis

The prognosis for individuals with familial renal amyloidosis is generally poor, due to the progressive nature of the disease. However, early detection and management can improve quality of life and potentially slow disease progression.

See Also

• Amyloidosis
• Hereditary amyloidosis
• Kidney disease
• Genetic disorders