Bartter disease

Bartter Disease: A Rare Genetic Disorder

Bartter disease, also known as Bartter syndrome, is a rare genetic disorder that affects the kidneys' ability to reabsorb essential electrolytes and fluids in the body [1][2]. This condition causes an imbalance of potassium, sodium, chloride, and related molecules in the body [11].

Causes and Symptoms

Bartter disease is caused by defects in genes responsible for salt reabsorption in the kidneys' thick ascending limb of Henle's loop [4][7]. The symptoms of this disorder include:

• Hypokalemia (low potassium levels)
• Metabolic alkalosis
• Hyperreninemia (high renin levels)
• Dehydration and fatigue
• Cramping and weakness
• Brittle bones and hardening of the kidneys (glomerulosclerosis) [14]

Types and Forms

There are two major forms of Bartter disease, distinguished by their age of onset and severity. The antenatal form begins before birth and is often life-threatening, while the classical form begins in early childhood and is less severe [15].

Electrolyte Imbalance

Bartter disease results from a defect in sodium, potassium, and chloride reabsorption at the level of Henle's loop [4]. This leads to excessive loss of these electrolytes through urine, causing an imbalance in the body.

References:

[1] Context 3 [2] Context 12 [4] Context 4 [7] Context 7 [11] Context 11 [14] Context 14 [15] Context 15

Bartter Syndrome: Signs and Symptoms

Bartter syndrome is a rare genetic disorder that affects the kidneys' ability to reabsorb essential electrolytes, leading to various symptoms and complications.

Common Symptoms:

• Excessive urine production (polyuria)
• Mild dehydration
• Low blood pressure (hypotension)
• Fatigue
• Cramping
• Weakness
• Brittle bones (osteoporosis)
• Hardening of the kidneys (glomerulosclerosis)

Additional Symptoms:

• Constipation
• Less weight gain than other children of similar age and sex (growth failure)
• Frequent urination (urinary frequency)
• Hearing loss
• Hypocalcemia (low calcium levels in the blood)
• Nephrocalcinosis (kidney stones or calcification)

Physical Characteristics:

• Emaciation with prominent forehead, large eyes, strabismus, protruding ears, sensorineural deafness, and drooping mouth (in some cases)

These symptoms can vary greatly from person to person, and the severity of the condition can differ depending on the underlying genetic mutation.

References:

• [3] Bartter syndrome is a rare inherited disorder that impedes the kidneys' ability to reabsorb salt, potassium, calcium, and other electrolytes, leading to the excessive loss of all of these compounds in urine.
• [5] Symptoms include excessive urine production, mild dehydration, and low blood pressure. Diagnosis is made by measuring electrolyte levels in the blood and urine ...
• [8] Symptoms · Constipation · Less weight gain than other children of similar age and sex (growth failure) · Frequent urination (urinary frequency) ...
• [9] Different forms of Bartter syndrome can have specific manifestations, including hearing loss, hypocalcemia, and nephrocalcinosis, depending on the underlying ...

Diagnostic Tests for Bartter Syndrome

Bartter syndrome can be diagnosed through various tests that measure electrolyte levels in the blood and urine, as well as genetic testing.

• Serum and Urinary Electrolyte Measurement: This test measures the levels of potassium, calcium, and chloride ions in the blood and urine. High levels of these ions are indicative of Bartter syndrome.
  • [3] states that high urine potassium, calcium, and chloride levels are characteristic of the disorder.
• Genetic Testing: Genetic testing can confirm the diagnosis of Bartter syndrome by identifying mutations in the genes associated with the condition.
  • [9] describes a genetic test that uses next-generation sequencing to detect single nucleotide, deletion-insertion, and copy number variants in 6 genes associated with Bartter syndrome.
• Exclusion of Similar Disorders: Other conditions such as Gitelman syndrome should be ruled out through laboratory tests before diagnosing Bartter syndrome.
  • [15] mentions that measurement of urine electrolytes shows high levels of sodium, potassium, and chloride that are inappropriate for the condition.

Additional Diagnostic Methods

In some cases, prenatal diagnosis may be indicated, and genetic testing is considered the most reliable method. In situations where prenatal genetic testing is not available or diagnostic, the assessment of the "Bartter index" (total protein × alfa-fetoprotein) may be considered.

• [11] states that in larger studies, other parameters such as high total protein and alpha-fetoprotein levels may also be used to diagnose Bartter syndrome.
• [14] mentions that the assessment of the "Bartter index" (total protein × alfa-fetoprotein) may be considered in situations where prenatal genetic testing is not available or diagnostic.

References

[3], [9], [11], [14], and [15] are cited from the provided search results.

Treatment Options for Bartter Disease

Bartter disease, also known as Bartter syndrome, is a rare genetic disorder that affects the kidneys' ability to regulate electrolytes and water balance in the body. The treatment for Bartter disease focuses on correcting the electrolyte imbalances using supplements and certain medications.

• Electrolyte Replacement: Treatment involves replacing lost electrolytes, such as potassium, sodium, and magnesium, through dietary changes or supplements [1][3].
• Potassium Supplements: Potassium supplements are often prescribed to help correct hypokalemia (low potassium levels) in individuals with Bartter disease [2][7].
• Diuretics: Diuretics may be used to help manage electrolyte imbalances and promote the excretion of excess fluids [3][4].
• Potassium-Sparing Diuretics: These diuretics can help correct hypokalemia by reducing potassium loss in the urine [2].
• ACE Inhibitors: Angiotensin-converting enzyme (ACE) inhibitors may be used to help manage blood pressure and electrolyte imbalances [4].
• Nonsteroidal Anti-Inflammatory Drugs (NSAIDs): NSAIDs, such as indomethacin, are sometimes prescribed to reduce inflammation and alleviate symptoms in individuals with Bartter disease [5][8].

It's essential to note that the treatment for Bartter disease can vary depending on the individual case and may require a multidisciplinary approach involving healthcare professionals from various specialties.

References:

[1] Treatment is aimed at correcting the electrolyte imbalances using supplements and certain medications such as nonsteroidal anti-inflammatories (NSAIDs) and ...

[2] by T da Silva Cunha · 2018 · Cited by 158 — Amiloride (ENaC blocker) · K+-sparing diuretics (help correction of hypokalemia) · Could work better than spironolactone and eplerenone to raise serum K+ levels ...

[3] Treatment involves electrolyte replacement; for Bartter syndrome, NSAIDs also are given. Drugs Mentioned In This Article.

[4] May 11, 2023 — Bartter Syndrome Medication: Potassium Supplements, Diuretics, Potassium-Sparing, ACE Inhibitors, NSAIDs.

[5] by R Kleta · 2000 · Cited by 78 — Current treatment options include indomethacin, a nonselective cyclooxygenase (COX) inhibitor, but this drug has a broad range of side effects ...

[6] by SRA Bokhari · 2023 · Cited by 28 — Bartter syndrome is difficult to treat and has no complete cure available to date. ... The pharmacist should evaluate medication choice, drug-drug ...

[7] Dec 31, 2023 — Bartter syndrome is treated by eating foods rich in potassium or taking potassium supplements. Many people also need salt and magnesium ...

[8] Drugs used to treat Bartter Syndrome ; Generic name: indomethacin systemic; Brand names: Indocin, Indocin SR; Drug class: Nonsteroidal anti-inflammatory drugs ...

Differential Diagnosis of Bartter Disease

Bartter disease, also known as Bartter syndrome, is a rare genetic disorder that affects the kidneys' ability to reabsorb salt and water. As a result, patients with this condition often experience electrolyte imbalances, fluid volume depletion, and other related symptoms.

When diagnosing Bartter disease, it's essential to consider several differential diagnoses that can present similar clinical features. Some of these conditions include:

• Gitelman syndrome: This is another rare genetic disorder that affects the kidneys' ability to reabsorb salt and water. While both Bartter and Gitelman syndromes share some similarities, they have distinct differences in their clinical presentation and pathophysiology.
• Pseudo-Bartter syndrome: This condition can mimic the symptoms of Bartter disease but is actually caused by diuretic abuse or surreptitious vomiting. It's essential to rule out this possibility through a thorough medical history and laboratory tests.
• Cystic fibrosis: Although rare, cystic fibrosis can present with similar electrolyte imbalances and fluid volume depletion as Bartter disease. However, the presence of respiratory symptoms and other characteristic features of cystic fibrosis should prompt further investigation.
• Celiac disease: This autoimmune disorder can cause malabsorption of nutrients, leading to electrolyte imbalances and fluid volume depletion. While it's less likely than the above conditions, celiac disease should be considered in the differential diagnosis.

Key Features for Differential Diagnosis

To differentiate Bartter disease from these conditions, clinicians should look out for the following key features:

• Electrolyte imbalances: Patients with Bartter disease typically present with low potassium and chloride levels, whereas those with Gitelman syndrome may have normal or elevated potassium levels.
• Fluid volume depletion: While both conditions can cause fluid volume depletion, patients with Bartter disease often have lower blood pressure compared to those with Gitelman syndrome.
• Renal function: Patients with Bartter disease typically have impaired renal function, whereas those with Gitelman syndrome usually have normal renal function.

Conclusion

In conclusion, differential diagnosis of Bartter disease requires a thorough understanding of the condition's clinical features and pathophysiology. By considering alternative diagnoses such as Gitelman syndrome, pseudo-Bartter syndrome, cystic fibrosis, and celiac disease, clinicians can provide accurate and timely diagnosis and treatment for patients with this rare genetic disorder.

References:

• Matsunoshita et al. (2016). Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. Genet Med, 18(10), 180.
• Tabish et al. (2020). Colistin-induced acquired Bartter-like syndrome: an unusual cause of meltdown. BMJ Case Rep, 13(1).
• Disease Reference Network (Konrad et al.). Recommendations for the diagnosis and management of patients with BS.