Introduction to gitelman syndrome

What is gitelman syndrome?

In your body, you have 23 pairs of chromosomes which contain your genes. Out of these, 1 pair is made up of both of your parents together, and the other 22 decide every other trait in your body. Gitelman Syndrome (GS) is an autosomal recessive disorder.¹ meaning a mutation (change in DNA) must exist in both of your parents, for GS to be passed down.²

An important notice to give is that relatives of a patient with GS are advised to be screened to see if they carry the mutation that could potentially affect their children.²

How does it happen?

Your kidneys are vital organs that filter your blood to remove waste products.³ Within the kidneys, there are around 900,000 nephrons.⁴ The nephron is a structure within the kidney that is responsible for the blood filtration within your body. Nephrons are made up of tubes and GS specifically tampers with the function of a tube called the Distal Convoluted Tubule (DCT).⁵ The DCT selectively reabsorbs sodium, chloride, magnesium, calcium and potassium. GS is a mutation in the normal function or abundance of the ‘gates’ within the wall of the DCT tube. These gates help the ions mentioned pass in and out of the blood and DCT where they will be passed as urine.⁵

Symptoms

Although GS is inherited, meaning you are born from it, GS doesn’t usually become apparent until the age of 6. Some may not develop any symptoms but others can experience chronic life-threatening complications.⁶ It is important to understand that the symptoms of GS can develop at any stage and can often act like a domino effect in developing more serious symptoms.¹

More common symptoms

More common symptoms include:^7,6

• Muscle weakness
• Fatigue (often in episodes)
• Cramps and muscle spasms
• Nausea (feeling sick) and dizziness
• Joint pain
• Constant thirst
• Wanting salty foods
• Tingling in hands and feet
• Excessive urination
• Fainting
• Tetany (cramps in certain muscles such as the hands, feet, legs and face)

Less common symptoms

Less common symptoms include:⁸

• Low blood pressure (Hypotension)
• Low potassium ion levels (Hypokalaemia)
• Low magnesium ion levels (Hypomagnesemia)
• Abdominal pain
• Irregular heartbeat (Cardiac arrhythmia)

Long-term prognosis of gitelman syndrome

General outlook

Some excellent news is that your life expectancy for GS is not reduced and you can absolutely live a ‘normal’ lifestyle with this disorder. This of course relies on GS being well managed so it is important for you to understand GS and the effective adjustments to prevent your quality of life from being impacted. There are risks that GS can cause an onset of cardiac arrhythmia, however, this should also not affect your life expectancy if managed appropriately.¹

Challenges and complications

As mentioned, some of the symptoms of GS can be challenging to deal with, especially muscle cramps and fatigue, which can be chronic with the condition.⁶

The high demand to constantly supplement your deficiency in certain minerals⁸ because of GS may also be challenging. It may feel like a burden and can bring added pressure when trying to plan and organise trips or even just having to plan your day-to-day.

Potential complications over time

Electrolytes are the minerals that carry an electrical charge which is important for helping to maintain the optimal body environment. An imbalance can have significant complications all around the body.^9,10,11

• If electrolytes are not balanced in the urine, then ions like calcium can form hard deposits in the kidneys, which are known as kidney stones
• Cardiovascular complications like heart disease, heart attack and strokes can happen since the kidney regulates blood pressure and removes waste from the bloodstream
• Low potassium can induce cardiac arrhythmias
• Chronic kidney damage can result from a prolonged period of electrolyte imbalance. This is because the kidneys become strained which can lead to an inability to filter waste products
• Hypertension over a period can damage blood vessels in the kidney and reduce their regular function to filter waste
• Potassium is an electrolyte. Low potassium can lead to muscle weakness which in serious cases can cause the heart to stop beating. This is because potassium is crucial for regular muscle and nerve function
• Magnesium is another electrolyte. This is linked to multiple complications:¹²
  • If your body has too little magnesium, it can cause more than just muscle weakness. A lack of magnesium can cause muscle tension and cramps, which become more frequent if left untreated.
  • A loss of magnesium also aids in bone repair by increasing the cells needed for this
  • Inflammatory proteins may increase in abundance which affects bone remodelling
  • Metabolic acidosis, which is blood that has become too acidic, can lead to loss of calcium from bones. Calcium is essential for bone strength. Reduced density, can lead to an increased risk of fractures and breakages

How gitelman syndrome is managed

Treatment approaches

There are currently no treatments available to cure GS, but with this negative aside, GS is relatively simple to manage and requires maintaining a particular lifestyle.

Your GP can prescribe you medication which can help balance your electrolytes which are called potassium-sparing diuretics. These increase potassium and magnesium as well as sodium chloride (salt) within the blood. Alongside medication, you may also be prescribed certain supplements including magnesium, potassium and sodium chloride.⁸

Lifestyle adjustments

This will take some time to get used to a diet that helps stabilise GS but over time this will only become second nature. There are multiple ways to adjust your lifestyle when living with GS:¹⁰

• Foods high in electrolytes – foods high in potassium include bananas, potatoes, oranges, spinach and nuts. Food high in magnesium include leafy greens, whole grains and nuts
• GS is associated with low salt levels in the blood. Increasing your intake of salt can maintain normal levels but it is essential you do this with guidance from medical professionals
• Dehydration is another sign seen in GS. Drinking enough fluid will support your kidney function and prevent kidney stones. See the NHS fluid intake page for guidance
• Calcium intake through leafy greens and/or dairy products can also prevent kidney stones and help aid in healthy bone growth

Importance of regular medical care

Frequent check-ups

It is important to keep up with regular doctor visits. Whilst you may be very effective in maintaining a GS lifestyle regarding your diet blood tests must be done to ensure electrolytes are balanced and that the kidney function is still normal. This will prevent complications and can also change medication and dietary needs if necessary to manage any symptoms you may be presenting.¹⁰

Coping and support

Mental and emotional support

Whether a condition is mild or severe, there is no cap on how challenging it can be to live with a chronic disorder like GS. Adjusting to a change in lifestyle brings many emotions. Despite all these not being negative, there are of course times when you may feel defeated, scared and sad. Dealing with the uncertainty and learning to accept that uncertainty is part of our lives in all aspects, is a starting point to managing your emotions with GS. There are support groups available which might help you connect to others who have experienced similar events or just give you a safe space to be heard.

If you would like to manage within your own space, there are resource packs available on the NHS which guide you through coping with GS. A helpful care package is the self-care resource pack for people with chronic health conditions.

If you have close relatives and friends around you, then you are deeply encouraged to reach out and talk to them. You will be surprised by just how helpful talking is in coping with a chronic condition. People are natural empaths¹³ so they may be able to offer emotional support and ideas which you can try to better manage GS. If you are someone who knows a loved one who has inherited GS, then counselling and safe spaces are also available to help with the emotional burden and pressure that chronic conditions can create.

Summary

Gitelman Syndrome (GS) is a genetic condition that affects the kidneys' ability to properly manage certain electrolytes like magnesium and potassium. It’s typically passed down when both parents carry the gene. GS often doesn’t show symptoms until later in childhood, and while some people may not experience issues, others can face challenges like muscle weakness, fatigue, and dizziness.

The good news is that most people with GS can live healthy and happy lifestyles if managed properly. With regular check-ups, proper diet, and medications to balance electrolytes, many people with GS can live a normal life. However, maintaining electrolyte levels can feel overwhelming at times, and there is a risk of complications like heart issues or kidney stones if the condition isn’t well-managed over time.

Living with GS may require lifestyle adjustments, but it’s important to reach out for support when needed. Talking to loved ones or joining support groups can help ease the emotional burden. Staying proactive with medical care and learning to manage symptoms can lead to a fulfilling and healthy life with GS.