Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (ADPKD1-TSC) is a rare genetic disorder that is caused by a mutation in the PKD1 gene. It is characterized by the growth of multiple cysts in the kidneys, as well as the development of non-cancerous tumors in other organs, such as the brain, heart, and lungs. People with this disorder may also experience seizures, developmental delays, and skin abnormalities. Treatment typically involves medications to control symptoms and surgery to remove cysts or tumors.

The symptoms of Autosomal Dominant Polycystic Kidney Disease Type 1 with Tuberous Sclerosis can vary from person to person, but may include:

-Kidney cysts

-High blood pressure

-Kidney failure

-Kidney stones

-Abdominal pain

-Frequent urination

-Blood in the urine

-Protein in the urine

-Kidney infections

-Kidney enlargement

-Kidney scarring

-Liver cysts

-Heart problems

-Developmental delays

-Seizures

-Skin abnormalities

-Facial abnormalities

-Behavioral problems

-Learning disabilities

-Cognitive impairments

-Eye problems

-Hearing loss

The cause of Autosomal Dominant Polycystic Kidney Disease Type 1 with Tuberous Sclerosis is a mutation in the PKD1 gene. This gene is responsible for producing a protein called polycystin-1, which helps regulate the growth and division of cells in the kidneys. Mutations in this gene can lead to the formation of multiple cysts in the kidneys, as well as other symptoms associated with tuberous sclerosis.

1. Medications: ACE inhibitors, angiotensin receptor blockers, and diuretics can be used to help control high blood pressure and reduce the risk of kidney failure.

2. Surgery: Surgery may be recommended to remove cysts or to repair damaged kidneys.

3. Dialysis: Dialysis may be necessary if kidney failure occurs.

4. Transplant: A kidney transplant may be recommended if kidney failure occurs.

5. Tuberous Sclerosis Treatment: Treatment for tuberous sclerosis may include medications, surgery, and lifestyle changes.

1. Family history of ADPKD1 and tuberous sclerosis
2. Mutation in the PKD1 gene
3. Mutation in the TSC1 or TSC2 gene
4. Advanced age
5. Male gender
6. Obesity
7. Hypertension
8. Diabetes
9. Smoking
10. High cholesterol

There is no cure for Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis. However, medications can be used to help manage the symptoms and slow the progression of the disease. These medications include angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), diuretics, and calcium channel blockers. Additionally, lifestyle changes such as reducing salt intake, maintaining a healthy weight, and exercising regularly can help to reduce the risk of complications associated with the disease.