Hereditary amyloidosis with primary renal involvement is a rare, inherited disorder in which abnormal proteins called amyloid fibrils accumulate in the kidneys, leading to kidney failure. The amyloid fibrils are made up of a protein called transthyretin (TTR), which is produced in the liver. In some cases, the TTR protein is mutated, leading to the formation of the amyloid fibrils. Symptoms of hereditary amyloidosis with primary renal involvement include proteinuria, edema, hypertension, and renal failure. Treatment typically involves medications to reduce proteinuria and control hypertension, as well as kidney transplantation.

The symptoms of Hereditary amyloidosis with primary renal involvement can vary depending on the type of amyloidosis and the organs affected. Common symptoms include:

- Swelling in the legs, ankles, and feet

- Fatigue

- Weight loss

- Nausea and vomiting

- Abdominal pain

- Diarrhea

- Loss of appetite

- Muscle weakness

- Difficulty breathing

- Heart palpitations

- High blood pressure

- Kidney failure

- Protein in the urine

- Blood in the urine

- Increased risk of infection

- Skin rash

- Enlarged liver and spleen

The causes of Hereditary amyloidosis with primary renal involvement are not fully understood. However, it is believed to be caused by mutations in certain genes that lead to the production of abnormal proteins that accumulate in the kidneys and other organs. These proteins are called amyloid proteins and can cause damage to the organs. In some cases, the cause of the mutation is unknown.

1. Liver transplantation: Liver transplantation is the only curative treatment for hereditary amyloidosis with primary renal involvement.

2. Symptomatic treatment: Symptomatic treatment includes medications to reduce proteinuria, control hypertension, and manage other symptoms.

3. Dialysis: Dialysis may be necessary to manage kidney failure.

4. Protein restriction: Protein restriction may be necessary to reduce the amount of amyloid protein in the body.

5. Stem cell transplantation: Stem cell transplantation may be used to replace the damaged cells in the kidneys.

6. Gene therapy: Gene therapy may be used to replace the mutated gene that causes the disease.

1. Family history of Hereditary Amyloidosis with Primary Renal Involvement
2. Age (most commonly affects people over the age of 50)
3. Gender (more common in men)
4. Ethnicity (more common in people of African descent)
5. Certain genetic mutations, such as those in the TTR gene
6. Certain medical conditions, such as diabetes, hypertension, and chronic kidney disease

Yes, there are treatments available for Hereditary amyloidosis with primary renal involvement. Treatment options include medications to reduce protein production, medications to reduce inflammation, and medications to reduce the amount of amyloid protein in the body. In some cases, a kidney transplant may be necessary.