Kidneys
Information about kidney problems in Tuberous Sclerosis Complex
Around eight in every 10 people living with Tuberous Sclerosis Complex (TSC) will experience some kidney problems at some stage of their life.
Kidney problems are not common in newborns or babies with TSC, but can start from childhood all the way to later adulthood.
Many people with TSC-related kidney issues have no significant problems. However, research from The TuberOus SClerosis registry to increase disease Awareness (TOSCA) shows that half of people with TSC-related kidney issues will need treatment of some kind by the time they are 40 years-old.
The TSA holds regular virtual and in-person events for the TSC community, about all aspects of living with TSC. One event, with Dr Chris Kingswood (Consultant Nephrologist) and Dr Nicholas Annear (Consultant in Acute Medicine & Nephrology), focused on the diagnosis, treatment and management of kidney problems in TSC:
What are some of the main kidney problems a person living with TSC might have?
Renal AMLs are tumours made up of fat, muscle cells and abnormal blood vessels. It is thought that renal AMLs begin to grow very early in childhood, continuing to grow in size and number over time. Around eight in every 10 adults living with TSC have renal AMLs in both kidneys, though only around half of these people will experience issues that require treatment.
Renal AMLs can affect kidney function and obstruct the flow of urine. Renal AMLs can lead to higher blood pressure, which if left untreated can lead to a reduced kidney function and/or an increased likelihood of cardiovascular problems, including stroke or heart attack. People living with TSC and AMLs on both kidneys may also have reduced kidney function by middle-age, although it is not certain if this is as a direct result of the renal AMLs or other TSC-related issues.
Surveillance and pre-emptive intervention to prevent TSC-related kidney problems is effective and very important.
The size, rate of growth and location of renal AMLs can depend on whether treatment is required, though AMLs often grow slowly.
Around one in every four people living with TSC will develop a renal cyst at some point in their lives, as found by TOSCA. Renal cysts are often present at birth and are small sac-like lumps of fluid on the kidneys.
Ordinary ‘simple’ cysts usually do not need treatment alone, though blood pressure monitoring and regular checks for kidney function are recommended. Around one in 20 people living with TSC will develop ‘polycystic’ kidneys, meaning that they have a significantly high number of cysts on their kidneys. People with polycystic kidneys will require regular and specialist monitoring at dedicated kidney specialist centres.
How are the kidneys of a person living with TSC monitored?
It is important that a person living with TSC has their kidneys regularly monitored for TSC-related changes. This is because of the impact that TSC-related kidney problems can have.
Typically, monitoring of the kidneys is done through Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) every 1-3 years. MRI and CT scans are painless. It is also suggested that annual blood pressure checks and kidney function checks (done through blood tests) are done, as well as urine tests which can all tell clinicians a lot about the health of the kidneys.
If kidney problems are found in a person living with TSC, their blood pressure and kidney function will also be monitored at regular intervals. This is usually done annually, though individual circumstances may differ.
How are kidney problems in a person living with TSC treated?
For some people, the presence of TSC-related kidney issues (such as AMLs) will not cause significant problems. However, for other people their TSC-related kidney issues will be serious and treatment is recommended.
Depending on the individual circumstances of each person living with TSC-related kidney issues, treatment can include embolisation (blocking blood flow to growths on the kidneys), surgery or medication. In very rare cases, kidney dialysis (a procedure to remove waste products from the blood when the kidneys are not functioning correctly) or transplantation may be considered.
One treatment option for AMLs is the medicine everolimus. Only a small number of people (less than 5%) are unable to take everolimus due to side-effects, with everolimus being well tolerated for most. If treatment with everolimus for AMLs needs to be temporarily stopped for any reason, the majority of people can take a short break from treatment, with treatment restarting after this and AMLs managed. However, no treatment or medicine should ever be stopped or altered without discussing your own clinical situation with your doctor or healthcare team.
In many people, including those without TSC, blood pressure and kidney problems can be linked. By taking steps to lower blood pressure, it can in some cases help the kidneys. Lifestyle changes – such as reducing salt in your diet, drinking lots of water and regular exercise – can reduce blood pressure. If needed, common medicines may be prescribed to lower blood pressure.
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