Overview

Kidneys are bean-shaped organs located in the upper abdominal cavity. They perform vital functions, including filtering waste products, excess fluids, and toxins from the blood to produce urine. Additionally, kidneys regulate electrolyte balance, blood pressure, and acid-base levels while producing hormones that help in red blood cell production and bone health. Symptoms of unhealthy kidneys include fatigue, decreased urine output, swelling in the legs or ankles, persistent itching, and high blood pressure. It is recommended to consult a doctor when any of these signs are seen.

What is Gitelman syndrome?

Gitelman syndrome is a genetic disorder damaging the functioning of the kidneys. The disorder leads to the kidney's disability to absorb salts, water, and nutrients from food, raising the chances of malnourishment. The disorder also ruins the filtration process of the kidney leading to the passage of excess fluids from the body.

Due to excessive salt and liquid passage, the affected patient may feel the repetitive urge to urinate. The affected patient may also experience weakness, muscle pain and cramps, dizziness, and low energy to perform different tasks.

Causes of Gitelman Syndrome

The most significant cause of Gitelman syndrome is a mutation in SLC12A3 and CLCNKB genes. SLC12A3 and CLCNKB are Gitelman Syndrome-associated genes. Mutations in these genes hamper the function of ion channels responsible for renal salt reabsorption. This leads to electrolyte imbalances. It also results in the production of faulty protein, thiazide-sensitive sodium-chloride cotransporter (NCC) protein. This protein is responsible for the reabsorption of sodium and chloride in the kidneys, and its dysfunction leads to electrolyte imbalances characteristic of the syndrome. The specific issue caused due to improper protein production defines the type of defect and health problems observed in the body. The kidneys are unable to absorb filtered protein and potassium. Gitelman syndrome is typically inherited in an autosomal recessive manner, meaning an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Symptoms of Gitelman Syndrom

Mentioned below are some of the Gitelman syndrome symptoms that help to identify the initial stages of the disease and allow the patient to begin treatment at the earliest possible time:

- Salt Craving- Excess loss of salt and water due to a medical disorder leads to the craving for salt. The affected individual may require additional addition of salt in every meal or may crave salt. The disorder also leads to low absorption of other nutrients, such as minerals, calcium, potassium, and water.
- Excessive Thirst- Excess salts, water, and electrolyte releases make the affected individual feel thirsty the maximum number of times. This disturbs the patient's routine and may also disturb one's outing plans.
- Frequent Urination- The individual affected by the genetic disorder also feels frequent urination. Therefore, in case of such symptoms, it is advised to consult a medical practitioner to identify the root cause of the issue. The patient may also feel the repetitive urge to urinate at night, known as nocturia.
- Low Blood Pressure- One of the damaging Gitelman syndrome symptoms is low blood pressure. It can happen due to more than required sodium excretion making the patient feel low on energy and unable to perform tedious tasks. Constant low blood pressure can also be the reason for multiple other health issues. Hence, getting a proper checkup done by the doctor to identify the root cause of the symptom helps to decide the proper treatment.
- Muscle Weakness- The genetic disorder happens due to the kidney's inability to absorb salt, water, and other essential nutrients for the body. Hence, the patient may feel muscle weakness and low energy. It affects the patient's routine functions and makes one feel low and lousy the whole day. The patient may also suffer from tetany, also known as cramps in the muscle.
- Multiple Health Issues- Health issues such as vomiting, nausea, and fatigue are some signs and symptoms observed when affected by the genetic disorder.

Treatment Options for Gitelman Syndrome

Mentioned below are some of the Gitelman syndrome treatment options that help to lower the symptoms of the disease and aid one's quick recovery:

- Planned Diet- Symptoms of the disease vary from person to person depending upon the damage caused to the affected individual. Hence, the treatment option may also differ for each patient. A well-curated diet, helpful to regain the nutrients lost due to the disease, helps to lower the symptoms such as muscle cramps and weakness. The patient may be suggested a high-sodium diet.
- The patient may also be recommended a high-potassium diet. High consumption of dried fruits helps one fulfil the potassium requirement rather than doing the same with the help of artificial supplements. The supplements may irritate the inner stomach lining and may not be suitable for all.
- Magnesium Intake- The genetic disorder also causes a high loss of magnesium from the body. The sudden intake of magnesium supplements at a time may cause diarrhoea. Therefore, the practice should be avoided. Intake of small magnesium supplements 4 to 6 times a day is the recommended intake by doctors. It helps to avoid magnesium-related diarrhoea and allows the patient to stay relaxed. An intravenous supply of magnesium has helped people with unbearable muscle cramps under such circumstances.
- Regular Monitoring- Regular monitoring of electrolyte levels and kidney function is important. In some cases, medications that inhibit the activity of the NCC protein, such as thiazide diuretics, may be prescribed to help with electrolyte reabsorption. Treatment is individualised based on the severity of symptoms and each patient's specific needs.

When to consult a Doctor

You can also get in touch with the expert Nephrology doctors at Narayana Healthcare based in your city to get immediate attention and medical support during injuries, health disorders or any other health concern.

Conclusion

Giltelman syndrome is a rare syndrome caused due to genetic disorders making it difficult for the affected patient to carry on with routine activities. The disorder can be identified by symptoms such as muscle cramps and weakness, excessive thirst, urge to urinate, and weakness. Unfortunately, there is no perfect treatment or medication to cure the disease, but following specific health tips can help to lower the symptoms.

FAQ

Q. What is Gitelman syndrome? A. It is a genetic disorder caused due to mutation in SLC12A3 and CLCNKB genes.

Q. What are the symptoms of the genetic disorder? A. Salt craving, excessive thirst, frequent urination, and muscle cramps are some of the symptoms of the disease.

Reference Links

- https://www.narayanahealth.org/blog/the-role-of-diet-in-preventing-uric-acid-kidney-stones/
- https://rarediseases.org/rare-diseases/gitelman-syndrome/
- https://www.osmosis.org/answers/Gitelman-syndrome