Humans are complex creatures, and they carry many rare and intricate disorders. For example, Gitelman Syndrome is a rare genetic kidney disorder. This disorder would create an imbalance of ions (charged atoms) in the body. Those include potassium, calcium, chlorine, magnesium, sodium ions.
The signs and symptoms of this disease generally come to prominence in late childhood to early adulthood. This disorder has a diverse nature, even among the same family. The treatment aims to target specific symptoms in each individual.
This disorder is a case of a rare genetic disease that affects kidney functioning. Its a result of a mutation in the SLC12A3 gene. This change gets inherited in an autosomal recessive manner.
It disables the kidney’s affinity to reabsorb salt and disturbs the concentration of electrolyte and extracellular fluids. Therefore, a urologist, andrologist, and nephrologist in Pune are better options for this disease.
Gitelman has many synonyms:
At times Gitelman syndrome is recognized as a variant of Bartter syndrome. Both the syndrome has an overlapping group of symptoms and defects in the kidney.
These disorders include the damage of some small tubes within the kidneys, known as renal tubulopathies. It also results in excessive loss of salts and ion channels which identifies the disorder as a salt-wasting disorder and salt-losing tubulopathies.
Medical terminologies of Gitelman syndrome (GS)
Based on laboratory findings of specialized doctors such as nephrologists in Pune, this syndrome has specific identification. Those are:
1. low levels of potassium found in the blood (hypokalemia)
2. low chloride levels in the blood (hypochloremia)
3. excess alkaline in the body (metabolic alkalosis)
4. low magnesium in the blood (hypomagnesemia)
5. low calcium in the urine (hypocalciuria)
6. high levels of renin found in the blood (hyperreninemia)
7. high levels of aldosterone found in the blood (hyperaldosteronemia)
These medical terminologies will help you gauge a better understanding of the exact condition.
Common signs and symptoms
The appearance of the symptoms usually gets delayed until the second decade of your life. After that, it becomes visible from late childhood (generally over the age of six) to early adulthood.
This disorder is unpredictable in terms of commonality among individuals affected by this. Even the same family members have variable symptoms of this disease. Having said that, some individuals do not show any signs (asymptomatic). On the other hand, some can develop mild to severe symptoms that impact their daily lives.
Common symptoms and signs of GS are:
1. Muscle weakness
2. spasms and cramps
3. May also experience episodes of fatigue, dizziness, fainting because of low BP
4. Muscle weakness, muscle aches, cramps, and spasms
5. You may experience a specific form of cramping spasms called tetany
6. Tetany targets muscles of hands and feet, arms, legs, and face
There can be symptoms like:
1. Abdominal pain and constipation
2. Vomiting and fever
3. Diarrhea and nausea
4. Seizures can be the signs of this syndrome to take medical assistance
5. A loss of sensation or feeling of the face identified by numbness or tingling is common.
6. Electrolyte imbalances and irregular heartbeats
7. Fatigue is an optional symptom, occurs in some goes unnoticed in some.
8. Some may or may not experience a frequent urge to urinate and excessive thirst
9. Salt cravings are quite a prominent sign to be affected by this disorder
Diagnosis
The diagnosis of Gitelman syndrome is not just an equipment test but includes a series of studies. A urologist, andrologist, or nephrologist in Pune can undertake all these procedures.
It gets detected by its classified signs and symptoms, patient history record, habits, routines. Therefore, a thorough clinical checkup in addition to various specialized tests is going to help in the identification of this syndrome.
Treatment
There is no specific or standardized cure for this disorder due to its rare nature. But there are some alternative methods and procedures to tackle Gitelman syndrome.
The design of the treatment is to target the specific symptoms of each individual. Therefore, it is a very signature personalized procedure. It requires the hands of specially skilled teams of doctors. There is also an option to refer to free online doctor consultation.
Health professionals such as Pediatricians, Cardiologists, kidney specialists (nephrologists, urologists) need to plan the course of action systematically and meticulously for the individual. Genetic counseling and therapies are very effective in such cases.
Asymptomatic people should not neglect their status. They should also do outpatient monitoring and checkups every one or two years.
Diet is one of the most efficient cures for any disease. For Gitelman syndrome, specialists recommend a high salt diet with oral potassium and magnesium supplements. Along with that, foods rich in potassium are great to add.
Conclusion
The rarity and fluidness of Gitelman Syndrome is a challenge to deal with it. But with medically advancing and evolving science, this disorder has come up with practical and effective solutions.
Symptoms are the key factors to diagnose this disease and monitor it further. The treatment methods are not in singular form but have a positive impact on the patients. Free online doctor consultations are also readily available, and they can aid in the early detection so that there can be preventative measures taken.
