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Bartter Disease

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Description: Bartter disease is a group of rare inherited renal disorders characterized by impaired sodium and chloride reabsorption in the kidneys, leading to chronic dehydration, growth problems, and electrolyte imbalances.

One-sentence description:
Bartter disease is a rare genetic disorder that affects kidney function, causing imbalances in electrolytes and chronic dehydration.
Type: Bartter syndrome is an autosomal recessive disorder.
Signs And Symptoms: **Signs and Symptoms of Bartter Syndrome:**

1. **Electrolyte Imbalance:** Hypokalemia (low potassium levels), hypochloremia (low chloride levels), and metabolic alkalosis (elevated blood pH).
2. **Growth and Development Issues:** Growth retardation or failure to thrive in children.
3. **Hydration and Urination:** Polyuria (excessive urination) and polydipsia (excessive thirst).
4. **Calcium Metabolism:** Hypercalciuria (elevated calcium levels in urine) and risk of kidney stones.
5. **Cardiovascular Symptoms:** Muscle weakness, fatigue, and potential cardiac arrhythmias due to electrolyte imbalances.
6. **Neuromuscular Symptoms:** Muscle cramps and spasms.
7. **Other Symptoms:** Salt craving, vomiting, and dehydration.

Bartter Syndrome is a group of rare inherited kidney disorders that impair the kidneys' ability to reabsorb sodium.
Prognosis: The prognosis for individuals with Bartter syndrome varies depending on the type and severity of the condition. With appropriate medical intervention and management, many individuals can lead relatively normal lives. Treatment typically includes potassium and magnesium supplements, NSAIDs, and sometimes medications like aldosterone antagonists. However, without adequate treatment, complications such as growth delays, dehydration, and electrolyte imbalances can occur. Early diagnosis and consistent management are crucial for improving outcomes and quality of life.
Onset: Bartter syndrome typically presents in infancy or early childhood, though it can sometimes be detected in the neonatal period.
Prevalence: The prevalence of Bartter syndrome is estimated to be approximately 1 in 100,000 to 1 in 1,000,000 people.
Epidemiology: Bartter syndrome is a rare inherited disorder that affects the kidneys' ability to reabsorb sodium. Its incidence is estimated to be about 1 in 1,000,000 people, although this can vary based on population and genetic factors. The disease is typically identified in childhood and affects both males and females equally.
Intractability: Bartter syndrome is generally considered a rare and chronic kidney disorder that can be challenging to manage but is not necessarily intractable. The symptoms can be managed with a combination of medications, dietary adjustments, and regular medical monitoring. The aim is to correct electrolyte imbalances and prevent complications. Early diagnosis and adherence to treatment significantly improve the quality of life for those affected.
Disease Severity: Bartter disease severity can vary widely among those affected. There are different types of Bartter syndrome, classified mainly by the specific genetic mutations involved and the age of onset.

- **Type 1 and Type 2**: Often present in infancy or early childhood and are generally more severe. They are characterized by significant growth delays, dehydration, and electrolyte imbalances.
- **Type 3**: Typically shows milder symptoms and may not become apparent until later in childhood or even adulthood.
- **Type 4**: Similar to types 1 and 2, but also associated with sensorineural hearing loss.
- **Type 5**: Characterized by mutations affecting the calcium-sensing receptor, and the severity can range, potentially involving skeletal abnormalities.

Management includes maintaining proper electrolyte balance and addressing specific symptoms. Routine follow-up with a healthcare provider is essential for managing the disease effectively.
Healthcare Professionals: Disease Ontology ID - DOID:445
Pathophysiology: Bartter syndrome is a group of rare inherited disorders affecting the kidneys' ability to reabsorb sodium properly. The pathophysiology involves mutations in various genes that encode for proteins essential in renal tubular salt reabsorption processes. These mutations primarily affect the thick ascending limb of the loop of Henle, causing impairments in sodium, potassium, and chloride reabsorption. Consequently, there is an increase in potassium excretion leading to hypokalemia and metabolic alkalosis. Additionally, the body compensates through hyper-reninism and hyperaldosteronism, which further exacerbates potassium loss and affects blood pressure regulation.
Carrier Status: Bartter syndrome is an autosomal recessive disorder. This means that an individual must inherit two copies of the defective gene (one from each parent) to express the disease. Carriers of Bartter syndrome have one defective gene and one normal gene, and typically do not exhibit symptoms of the disease but can pass the defective gene to their offspring.
Mechanism: Bartter syndrome is a group of rare inherited disorders affecting the kidneys' ability to reabsorb salt, leading to an imbalance of various electrolytes and water.

**Mechanism:**
Bartter syndrome involves defective ion transport in the thick ascending limb of the loop of Henle. The primary defect usually lies in either potassium (K+), sodium (Na+), or chloride (Cl-) transporters. The impairment in reabsorption leads to increased loss of these ions in the urine, which subsequently causes secondary effects such as volume depletion and activation of the renin-angiotensin-aldosterone system (RAAS).

**Molecular Mechanisms:**
1. **Bartter Syndrome Type I:** Mutations in the SLC12A1 gene that codes for the Na-K-2Cl cotransporter (NKCC2).
2. **Bartter Syndrome Type II:** Mutations in the KCNJ1 gene that encodes the renal outer medullary potassium channel (ROMK).
3. **Bartter Syndrome Type III:** Mutations in the CLCNKB gene that codes for the chloride channel (ClC-Kb).
4. **Bartter Syndrome Type IV:** Mutations in the BSND gene which affects barttin, a beta-subunit crucial for the function of ClC-Ka and ClC-Kb channels.
5. **Bartter Syndrome Type V:** Mutations in the CASR gene affecting the calcium-sensing receptor.

These mutations disrupt the normal salt and water handling by the kidneys, leading to metabolic alkalosis, hypokalemia, hypochloremia, and elevated plasma renin and aldosterone levels, typical of Bartter syndrome.
Treatment: Bartter syndrome typically requires lifelong treatment aimed at managing symptoms and balancing electrolytes. Treatment options may include:

1. **Potassium supplements:** To manage low potassium levels.
2. **Magnesium supplements:** To correct any magnesium deficiency.
3. **Nonsteroidal anti-inflammatory drugs (NSAIDs):** Such as indomethacin, to reduce the production of prostaglandins that may contribute to the condition.
4. **Potassium-sparing diuretics:** Such as spironolactone or amiloride, to help retain potassium.
5. **ACE inhibitors or angiotensin II receptor blockers (ARBs):** To manage blood pressure and reduce potassium loss.
6. **Sodium supplements:** Sometimes needed to balance sodium levels.
7. **Dietary adjustments:** To help manage electrolyte balance.

Regular monitoring by a healthcare provider is essential to adjust treatments as needed.
Compassionate Use Treatment: Bartter syndrome is a rare inherited disorder affecting the kidneys' ability to reabsorb salt. There are no specific "compassionate use" treatments widely recognized for Bartter syndrome, but treatment often focuses on managing symptoms and maintaining electrolyte balance.

Off-label or experimental treatments that have been explored in managing Bartter syndrome include:

1. **Nonsteroidal Anti-Inflammatory Drugs (NSAIDs)**: Certain NSAIDs like indomethacin can reduce kidney prostaglandin production and help control symptoms.

2. **Spironolactone or Eplerenone**: These are potassium-sparing diuretics that can help manage potassium levels.

3. **Amiloride**: Another potassium-sparing diuretic that can be beneficial for some patients.

4. **Magnesium Supplementation**: Often recommended as many patients have low magnesium levels.

5. **Angiotensin II Receptor Blockers (ARBs)**: In some cases, these may help mitigate symptoms despite not being a standard treatment for Bartter syndrome.

Research into the genetic underpinnings of Bartter syndrome may lead to future experimental treatments targeting the specific genetic mutations involved.
Lifestyle Recommendations: Lifestyle recommendations for Bartter syndrome:

1. **Dietary Modifications**
- Increase intake of potassium-rich foods like bananas, oranges, and spinach to counteract potassium loss.
- Ensure adequate salt intake as individuals may lose more salt through urine.
- Stay hydrated to manage electrolyte balance.

2. **Regular Monitoring**
- Frequent medical check-ups to monitor kidney function, electrolyte levels, and blood pressure.
- Monitor growth and development in children with the condition.

3. **Medications and Supplements**
- Adhere to prescribed medications such as potassium supplements, magnesium supplements, and nonsteroidal anti-inflammatory drugs (NSAIDs) as advised by a healthcare provider.

4. **Avoid Triggers**
- Avoid medications that can worsen electrolyte imbalances.
- Be cautious with activities that lead to excessive sweating, which may exacerbate electrolyte loss.

5. **Education and Support**
- Educate yourself and family members about the disease to better manage and recognize symptoms.
- Seek support groups or counseling to cope with the chronic nature of the condition.
Medication: Bartter syndrome is a group of rare, inherited kidney disorders that impair the kidneys' ability to reabsorb sodium. Treatment often targets managing symptoms and preventing complications. Medications used may include:

1. **Potassium-sparing diuretics** (e.g., spironolactone, amiloride) to reduce potassium loss.
2. **Nonsteroidal anti-inflammatory drugs (NSAIDs)** (e.g., indomethacin) to help reduce urine output and potassium loss.
3. **Potassium supplements** to address hypokalemia.
4. **Magnesium supplements** if magnesium levels are low.
5. **Angiotensin-converting enzyme (ACE) inhibitors** or **angiotensin II receptor blockers (ARBs)** to help control blood pressure and reduce potassium loss.

Consult a healthcare provider for personalized treatment recommendations.
Repurposable Drugs: There are currently no widely recognized repurposable drugs specifically for Bartter syndrome. Treatment primarily involves managing symptoms with medications such as potassium-sparing diuretics, nonsteroidal anti-inflammatory drugs (NSAIDs), and supplements like potassium and magnesium. Ongoing research may identify potential repurposable drugs in the future, but no definitive options are available at this time.
Metabolites: Bartter syndrome is a group of rare inherited renal disorders characterized by defective sodium and chloride reabsorption in the thick ascending limb of the loop of Henle. It leads to several metabolic abnormalities, including:

- **Hypokalemia (low potassium levels)**
- **Hypochloremia (low chloride levels)**
- **Metabolic alkalosis (elevated blood bicarbonate levels)**
- **Hyperreninemia (elevated renin in the blood)**
- **Hyperaldosteronism (elevated aldosterone levels)**

These abnormalities result from increased renal potassium and chloride excretion and secondary hyperaldosteronism driven by the body’s attempt to correct blood volume and sodium levels.
Nutraceuticals: Bartter syndrome is a rare inherited disorder affecting the kidneys' ability to reabsorb certain minerals. Nutraceuticals are not standard treatments for this condition. Management usually involves electrolyte supplements (such as potassium and magnesium), nonsteroidal anti-inflammatory drugs (NSAIDs), and sometimes medications like spironolactone or eplerenone to help maintain electrolyte balance. Always consult a healthcare provider for any treatment or supplementation.
Peptides: Bartter syndrome is a group of rare inherited kidney disorders that affect the renal tubules' ability to reabsorb sodium and chloride. There isn't a specific peptide universally associated with Bartter syndrome for diagnosis or treatment. The condition is characterized by low levels of potassium in the blood (hypokalemia), increased blood pH (metabolic alkalosis), and normal to low blood pressure. Treatment typically focuses on managing electrolyte imbalances rather than targeting specific peptides.