Bartter Disease Type 5
Disease Details
Family Health Simplified
- Description
- Bartter disease type 5 is a rare hereditary disorder characterized by impaired renal salt reabsorption, leading to hypokalemia, metabolic alkalosis, and hypercalciuria due to mutations in the CASR gene.
- Type
- Bartter syndrome type 5 is primarily characterized by autosomal recessive genetic transmission.
- Signs And Symptoms
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Bartter syndrome type 5 is a rare inherited condition that primarily affects kidney function. Signs and symptoms typically include:
1. **Electrolyte Imbalances**: Hypokalemia (low potassium), hypochloremia (low chloride), and metabolic alkalosis (increased blood pH).
2. **Growth Problems**: Poor growth and failure to thrive in infancy.
3. **Polyuria and Polydipsia**: Increased urine production and excessive thirst.
4. **Muscle Weakness**: Due to low potassium levels.
5. **Neurological Symptoms**: Tetany (muscle spasms), seizures in severe cases.
6. **Nephrocalcinosis**: Calcium deposits in the kidneys.
Note: "nan" seems to be irrelevant in this context. - Prognosis
- Bartter syndrome type 5 is a rare genetic disorder affecting the kidneys' ability to reabsorb certain salts. The long-term prognosis varies but can involve complications such as growth retardation, developmental delays, and kidney-related issues. Early diagnosis and appropriate management, which may include electrolyte supplements and medications to control symptoms, can improve quality of life and outcomes for patients. Regular follow-ups with healthcare providers are essential for monitoring and managing the condition effectively.
- Onset
- Bartter disease type 5 often presents with symptoms that may begin in utero or early infancy. Signs can include polyhydramnios before birth, followed by failure to thrive, dehydration, and electrolyte imbalances such as hypokalemia, metabolic alkalosis, and hypercalciuria. This form of Bartter syndrome is associated with mutations in the MAGED2 gene.
- Prevalence
- Bartter syndrome type 5 is an extremely rare genetic disorder, but specific prevalence data is not available (not applicable nan). The condition is characterized by mutations in the MAGED2 gene and presents with features such as hypokalemia, metabolic alkalosis, and hypercalciuria.
- Epidemiology
- Bartter syndrome type 5 is an extremely rare genetic disorder. The precise incidence is not well-documented due to its rarity. It is part of a group of disorders known as Bartter syndromes, which affect the kidneys' ability to reabsorb sodium. Bartter syndrome type 5 specifically involves mutations in the gene encoding the calcium-sensing receptor (CaSR). It is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the defective gene, one from each parent, to be affected.
- Intractability
- Bartter syndrome type 5, like other forms of Bartter syndrome, is a genetic disorder that impacts kidney function, leading to imbalances in potassium, sodium, and chloride in the body. While it is a chronic condition requiring lifelong management, it is not considered completely intractable. Treatment options, including dietary modifications, electrolyte supplements, and medications, can help manage symptoms and improve quality of life. However, there is currently no cure, and the condition may require ongoing medical supervision.
- Disease Severity
- Bartter syndrome type 5 typically presents with severe disease.
- Healthcare Professionals
- Disease Ontology ID - DOID:0110147
- Pathophysiology
- Bartter disease type 5 is a rare autosomal recessive disorder characterized by mutations in the CASR gene, which encodes the calcium-sensing receptor. The pathophysiology involves the kidney's inability to reabsorb sodium, potassium, and chloride in the thick ascending limb of the loop of Henle, leading to hypokalemia, metabolic alkalosis, hypercalciuria, and secondary hyperaldosteronism. This defective ion transport results in polyuria, polydipsia, muscle weakness, and growth retardation.
- Carrier Status
- Bartter disease type 5 is an inherited disorder typically passed down in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene (one from each parent) to manifest the disease. A carrier, who has only one copy of the mutated gene, usually does not show symptoms but can pass the gene to their offspring. Therefore, each child of two carrier parents has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected.
- Mechanism
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Sure. Bartter disease type 5 is a rare inherited kidney disorder characterized by the body's inability to reabsorb chloride, sodium, and potassium properly, leading to a set of symptoms including hypokalemia, metabolic alkalosis, and hypercalciuria.
**Mechanism:**
Bartter disease type 5 is caused by mutations in the gene MAGED2. This gene is located on the X chromosome and encodes for the melanoma antigen family D2 protein, which is involved in the regulation of various ion transporters and channels in the kidneys.
**Molecular Mechanisms:**
1. **MAGED2 Protein Deficiency:** Mutations in the MAGED2 gene lead to deficient or dysfunctional MAGED2 protein.
2. **Ion Transport Disruption:** The MAGED2 protein plays a role in regulating the function of key ion channels and transporters in the renal tubules, such as the sodium-potassium-chloride cotransporter (NKCC2) and the sodium-chloride cotransporter (NCC). Dysfunctional MAGED2 disrupts the proper functioning of these transporters.
3. **Impaired Sodium and Chloride Reabsorption:** This disruption leads to impaired reabsorption of sodium and chloride in the thick ascending limb of the loop of Henle and the distal convoluted tubule of the kidneys.
4. **Secondary Effects:** The failure to reabsorb these ions properly results in downstream effects, including increased urinary excretion of potassium (hypokalemia), metabolic alkalosis, and increased urinary calcium excretion (hypercalciuria).
Overall, the molecular mechanism revolves around impaired ion transport causing an imbalance in electrolytes, which leads to the clinical manifestations of Bartter disease type 5. - Treatment
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Bartter disease type 5 is a rare inherited disorder affecting kidney function. The treatment typically focuses on managing symptoms and preventing complications. It includes:
1. **Electrolyte Supplements:** Potassium and magnesium supplements to correct deficiencies.
2. **Nonsteroidal Anti-Inflammatory Drugs (NSAIDs):** Such as indomethacin to reduce renal prostaglandin production.
3. **Potassium-Sparing Diuretics:** Such as spironolactone or amiloride to help conserve potassium.
4. **Angiotensin-Converting Enzyme (ACE) Inhibitors or Angiotensin II Receptor Blockers (ARBs):** To regulate blood pressure and reduce the amount of potassium excreted by the kidneys.
5. **Adequate Hydration:** To manage fluid balance.
Regular monitoring and follow-up with a healthcare provider are crucial to adjust therapies as needed. - Compassionate Use Treatment
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Bartter syndrome type 5, a rare renal disorder characterized by impaired salt reabsorption in the kidneys, does not have definitive cures. However, various treatments are considered for managing symptoms and improving quality of life. Compassionate use treatments, off-label, or experimental options can include:
1. **Spironolactone or Eplerenone:** These are mineralocorticoid receptor antagonists that may help mitigate hypokalemia.
2. **Indomethacin or other NSAIDs:** Sometimes used off-label to manage prostaglandin-mediated symptoms.
3. **Potassium Supplements:** To counteract severe hypokalemia.
4. **Magnesium Supplements:** To address hypomagnesemia.
5. **Experimental Therapies:** Gene therapy and novel pharmaceuticals targeting underlying genetic mutations are areas of ongoing research.
Management typically involves a multidisciplinary approach, tailored to individual patient needs. - Lifestyle Recommendations
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For Bartter disease type 5, here are some lifestyle recommendations:
1. **Balanced Diet**: Maintain a diet rich in potassium and magnesium. Include fruits, vegetables, and foods that support electrolyte balance.
2. **Hydration**: Drink plenty of water to stay hydrated, as this condition can lead to significant water loss.
3. **Regular Monitoring**: Regular check-ups with healthcare providers to monitor electrolytes and kidney function.
4. **Avoid NSAIDs**: Nonsteroidal anti-inflammatory drugs (NSAIDs) can worsen kidney function and should be avoided unless prescribed by a physician.
5. **Medication Adherence**: Stick to prescribed medications and supplementation for electrolyte balance.
6. **Physical Activity**: Engage in regular, moderate exercise but avoid strenuous activities that may lead to excessive sweating and further electrolyte imbalance.
7. **Stress Management**: Practice stress-reducing activities like yoga or meditation as stress can impact overall health.
Consult with a healthcare professional for a tailored plan. - Medication
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Bartter disease type 5 is a rare inherited disorder that affects the kidneys, leading to imbalances in electrolytes such as potassium, sodium, and chloride. One specific medication for managing Bartter disease type 5 is **Indomethacin**, a nonsteroidal anti-inflammatory drug (NSAID) that helps reduce prostaglandin levels, thereby aiding in the improvement of electrolyte reabsorption in the kidneys.
It is important for patients with Bartter disease type 5 to work closely with their healthcare provider to manage their condition through a combination of medication and appropriate electrolyte supplements. - Repurposable Drugs
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Bartter syndrome type 5 is a rare inherited disorder that affects kidney function, leading to imbalances in electrolytes such as potassium, sodium, and chloride. Given its rarity, there is limited research on repurposable drugs specifically for this condition. However, some drugs used for managing other forms of Bartter syndrome or similar electrolyte imbalances might be considered. These include:
1. **Nonsteroidal Anti-Inflammatory Drugs (NSAIDs):** Indomethacin is often used to reduce prostaglandin levels, which can help alleviate some symptoms of Bartter syndrome.
2. **Potassium-Sparing Diuretics:** Spironolactone and eplerenone can help manage hypokalemia (low potassium levels).
3. **Potassium Supplements:** Potassium chloride may be given to correct hypokalemia.
4. **Magnesium Supplements:** Magnesium deficiency is often seen in Bartter syndrome and may require supplementation.
These treatments aim to manage the symptoms and complications rather than cure the underlying genetic condition. Always consult a healthcare provider for personalized medical advice. - Metabolites
- Bartter syndrome type 5 is associated with mutations in the gene MAGED2. This condition affects kidney function and typically presents with imbalances in several key metabolites. Common metabolic abnormalities include hypokalemia (low potassium levels), hypochloremia (low chloride levels), metabolic alkalosis (elevated blood pH), and increased levels of renin and aldosterone due to the body's attempt to compensate for the electrolyte losses.
- Nutraceuticals
- There are no specific nutraceuticals universally recommended for treating Bartter syndrome type 5. This rare genetic disorder, primarily treated by managing electrolyte imbalances and symptoms, typically involves medications like potassium-sparing diuretics, nonsteroidal anti-inflammatory drugs (NSAIDs), and supplements to correct electrolyte disturbances (e.g., potassium and magnesium). Nutraceuticals have not been established as part of the standard treatment protocol for this condition.
- Peptides
- Bartter disease type 5 is a rare inherited disorder affecting the kidneys, leading to imbalances in electrolytes. It is caused by mutations in the CASR gene, which encodes the calcium-sensing receptor. This type of Bartter syndrome involves impaired calcium sensing in the kidney, causing imbalances in sodium, potassium, and chloride ions. The condition can result in symptoms like hypokalemia, metabolic alkalosis, and hypercalciuria. Treatment may involve medications to manage electrolyte levels and supplements as needed.