Many people with TSC will develop some signs of TSC (Tuberous Sclerosis Complex) in their kidneys during their lifetime.
However, with proper surveillance and care, most people with TSC can avoid major kidney problems. Sometimes kidney disease can be the first clue that a person has TSC; in other people it might first be detected in adulthood.
The most important things to know about TSC and the kidneys are:
- Lifelong surveillance is vital to tracking TSC growths in the kidneys and being able to offer treatment at the right time.
- A medicine to treat TSC kidneys is available and TSC experts recommend early identification and treatment of kidney growths called angiomyolipomas (AMLs).
- Kidneys should only be removed in very extreme cases, and this should be avoided, if possible.
- The risk of kidney cancer in TSC is sometimes overstated and a TSC expert should be consulted before cancer treatment is considered.
Here is a glossary of medical terms associated with the kidneys:
Kidney – the organ responsible for filtering the blood and producing urine
Renal – a term used to refer to kidney related things
Nephrologist – a doctor who specialises in kidney medicine
Renal Physician – another word for a kidney doctor
Urologist – a surgeon who operates on kidneys
Angiomyolipoma (AML) – a non-cancerous tumour made up of blood vessels, muscle cells and fat cells
Nephrectomy – an operation to remove all or part of the kidney
Embolisation – a procedure to block off the local blood supply to a tumour or tissue in the body.
Signs, Symptoms and
Surveillance and Prevention
Surveillance is important because it can lead to early detection and treatment. Each person with TSC should have an individual management plan developed with their medical team that uses these guidelines as a starting point.
For people newly diagnosed with TSC or when TSC is suspected:
- Perform magnetic resonance imaging (MRI) of the abdomen to check for possible renal angiomyolipomas or cysts (see note below re more common use of ultrasound/imaging in Australia).
- Test for high blood pressure
- Have a blood test to check kidney function
- Have a urine test for blood and protein.
For individuals already diagnosed with TSC:
- Obtain abdominal MRI every 1-3 years to monitor renal and non-renal TSC disease progression (see note below re more common use of ultrasound/imaging in Australia).
- Check blood pressure, kidney function (glomerular filtration rate) and screen for increased levels of protein in the urine at least annually.
Note: The international guidelines make reference to performing MRI of the abdomen to check for possible renal angiomyolipomas or cysts. In Australia, an MRI scan of the kidneys is not currently covered by the Medical Benefits Scheme which means that the out of pocket cost for this may be quite high. An ultrasound or CT scan of the kidneys is sometimes used in place of an MRI of the abdomen. Many people with TSC in Australia have regular kidney ultrasounds, in place of MRIs, to monitor their kidneys. Abdominal MRIs may be useful if AMLs are fat-poor.
It is important that a person can lie still for an MRI scan. For people with TSC who have an intellectual disability or are very young, a general anaesthetic may be required before an MRI scan can be done. In these cases it is recommended to combine imaging so that multiple tests can be performed. Some people with TSC combine: abdominal MRI, brain MRI, blood tests, dental procedures and more. Although this can be very difficult to organise, people with TSC and their families find this approach minimises the impact of these tests on their lives as well as reducing risks of anaesthetic.
CT is not recommended for regular surveillance for people with TSC due to risks associated with the radiation that CT scans use. This is because people with TSC will require imaging throughout their life and repeated CT scans will lead to increased exposure to radiation. However, MRI is not useful for detecting lung disease so women with TSC will have CT scans performed. Read more in our information page about TSC and the lungs.
Monitoring blood pressure is important because high blood pressure, or hypertension, can accelerate a loss of kidney function. Blood tests to measure glomerular filtration rate find out how well the kidneys are working.
People with TSC should aim for a healthy diet and lifestyle to ease the burden on the kidneys and avoid high blood pressure. Kidney Health Australia has more information about keeping kidneys healthy.
Read more about keeping your kidneys healthy.
Although it is written for people with chronic kidney disease it is useful for all people with TSC because of the risk of developing kidney disease associated with TSC.
People with AMLs should be aware of the type of symptoms that are associated with bleeding from AMLs. This includes back or abdominal pain, nausea, vomiting, high temperature and dark or blood stained urine. A major bleed from an AML can also present with sudden dizziness, fast heart rate, low blood pressure or collapse. These symptoms should be shared with carers of people with AMLs.
Many people with TSC will not require any treatment for their kidneys. Kidney cysts and small AMLs do not require treatment.
High blood pressure should be treated to reduce the stress on the kidneys. Polycystic kidney disease and chronic kidney disease should be treated as they are for the non-TSC population.
Angiomyolipomas (AMLs) should be treated if they bleed or if they are large and/or growing.
Last updated: 25 October 2022
Reviewed by: Dr Nikky Isbel, Nephrologist, Princess Alexandra Hospital in Brisbane, Dr Sean Kennedy, Paediatric Nephrologist, Sydney Children’s Hospital, Dr Matthew Sypek, Nephrologist, Royal Children’s Hospital Melbourne and Royal Melbourne Hospital
- Kwiatkowski D.J., Whittemore V.H. & Thiele E.A. (2010) Tuberous Sclerosis Complex: Genes, Clinical Features, and Therapeutics. Weinheim: Wiley-Blackwell
- Tuberous Sclerosis Association (United Kingdom). Factsheet on TSC and Kidneys. Viewed 7 August 2017.
- Tuberous Sclerosis Alliance, Kidneys, viewed 7 August 2017
- Kingswood J, C, Bissler J, J, Budde K, Hulbert J, Guay-Woodford L, Sampson J, R, Sauter M, Cox J, Patel U, Elmslie F, Anderson C, Zonnenberg B, A, Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study. Nephron 2016;134:51-58