Bartter disease type 4a

Bartter disease type 4A is a rare genetic disorder that affects the kidneys' ability to reabsorb salt and electrolytes, leading to various symptoms.

Key Features:

• Maternal polyhydramnios: An increased volume of fluid surrounding the fetus (amniotic fluid) during pregnancy.
• Premature delivery: Babies with Bartter disease type 4A are often born prematurely.
• Salt loss and polyuria: Excessive urine production due to impaired salt reabsorption in the kidneys.
• Sensorineural deafness: Congenital hearing loss affecting the inner ear.
• Hypokalemic metabolic alkalosis: Low potassium levels and high blood pH, leading to various complications.

Other Characteristics:

• The disorder is caused by a mutation in the BSND gene on chromosome 1p32.
• It is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to develop the condition.
• Cognitive and motor development may be affected due to prematurity.

References:

• [1] - A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. ... (Bartter syndrome type 4A), which ...
• [12] - Bartter syndrome type 4. The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. ... Disease Overview. A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural ...
• [14] - Title: Bartter disease type 4A Definition: Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal ...

Bartter syndrome, specifically Type 4A, presents with several severe symptoms that can impact an individual's health.

• Polyhydramnios: This condition is characterized by excessive amniotic fluid during pregnancy, which can lead to complications such as premature birth and low birth weight [4].
• Premature birth: Individuals with Bartter syndrome Type 4A often experience premature birth, which can increase the risk of various health issues in infancy and childhood [9].
• Excessive urination (polyuria): This symptom is common in individuals with Bartter syndrome, including those with Type 4A. Polyuria can lead to dehydration if not properly managed [6].
• Fever: Fever is another symptom associated with Bartter syndrome Type 4A, which can be a sign of an underlying infection or other complications [4].
• Dehydration: Due to excessive urination and fever, individuals with Bartter syndrome Type 4A may experience dehydration if not properly hydrated [6].

It's essential for individuals with Bartter syndrome Type 4A to work closely with their healthcare providers to manage these symptoms and prevent potential complications.

Diagnostic Tests for Bartter Disease Type 4A

Bartter disease type 4A can be diagnosed through various clinical and genetic tests.

• Clinical Diagnosis: The diagnosis is based on the clinical picture, which includes symptoms such as hypokalemia (low potassium levels), metabolic alkalosis, and nephrocalcinosis. Blood gas analysis, plasma and urine electrolytes (sodium, potassium, chloride, bicarbonate, magnesium, calcium) are also used to confirm the diagnosis [2].
• Genetic Testing: Genetic testing is recommended for definitive diagnosis of Bartter disease type 4A. This includes sequence analysis of the entire coding region, bi-directional Sanger sequencing, and next-generation sequencing (NGS) to detect single nucleotide, deletion-insertion, and copy number variants in the BSND gene [1][6][10].
• Prenatal Genetic Testing: Prenatal genetic testing can also be used to confirm the diagnosis of Bartter disease type 4A. This includes biochemical analysis of amniotic fluid [6].

Recommended Diagnostic Tests

The recommended diagnostic tests for Bartter disease type 4A include:

• Sequence analysis of the entire coding region
• Bi-directional Sanger sequencing
• Next-generation sequencing (NGS) to detect single nucleotide, deletion-insertion, and copy number variants in the BSND gene

These tests can help confirm the diagnosis of Bartter disease type 4A and rule out other conditions with similar symptoms.

References

[1] Clinical Molecular Genetics test for Bartter disease type 4A [2] Diagnosis is based on the clinical picture, blood gas analysis, plasma and urine electrolytes (sodium, potassium, chloride, bicarbonate, magnesium, calcium) [6] Genetic testing is recommended for definitive diagnosis of Bartter disease type 4A [10] This test utilizes next-generation sequencing to detect single nucleotide, deletion-insertion, and copy number variants in 6 genes associated with Bartter syndrome

Bartter syndrome type 4a (BS4a) is a rare genetic disorder that affects the kidneys' ability to regulate electrolyte levels in the body. While there are no specific treatments for BS4a, various medications and supplements can help manage its symptoms.

Correcting Electrolyte Imbalances

Treatment for BS4a focuses on correcting the electrolyte imbalances caused by the condition. This is typically achieved through the use of:

• Supplements: To replenish lost electrolytes such as potassium, sodium, and chloride.
• Medications: Such as nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce inflammation and alleviate symptoms.

Calcineurin Inhibitors

Research suggests that calcineurin inhibitors, like tacrolimus, may be effective in treating BS4a. These medications can help increase the levels of phosphorylated NCC, which is essential for proper electrolyte regulation.

Other Treatment Options

In addition to correcting electrolyte imbalances and using calcineurin inhibitors, other treatment options may include:

• ACE inhibitors: To manage blood pressure and reduce proteinuria.
• NSAIDs: To alleviate symptoms such as pain and inflammation.

It's essential to note that each individual with BS4a may require a personalized treatment plan, taking into account their specific needs and medical history. Consistent medication adherence is crucial in managing the condition effectively.

References:

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

[3] Treatment is aimed at correcting the electrolyte imbalances through the use of supplements and certain medications such as nonsteroidal anti-inflammatories ( ... [Context 3]

[5] We recommend considering treatment with NSAIDs in symptomatic patients with BS, especially in early childhood (grade B, moderate recommendation). •. We also suggest considering ACE inhibitors to manage blood pressure and reduce proteinuria. [Context 5]

[7] In addition, we have previously reported that tacrolimus, a calcineurin inhibitor, increases the levels of phosphorylated NCC. In this study, we administered ... [Context 7]

Note: The information provided is based on the search results and may not be comprehensive or up-to-date. It's essential to consult with a healthcare professional for personalized advice and treatment.

Bartter disease type 4a, also known as BSND-related Bartter syndrome, is a rare inherited disorder characterized by defective salt reabsorption in the kidneys. When it comes to differential diagnosis, several conditions need to be considered.

Conditions to rule out:

• Congenital chloride diarrhea: This condition is caused by a defect in chloride absorption and can present with similar symptoms to Bartter disease type 4a.
• Type 1 pseudohypoaldosteronism: This condition is characterized by impaired salt reabsorption in the kidneys, leading to hypokalemia and metabolic alkalosis, similar to Bartter disease type 4a.
• Diuretic abuse: Long-term use of diuretics can lead to electrolyte imbalances and metabolic disturbances that may mimic those seen in Bartter disease type 4a.

Other conditions to consider:

• Hyperprostaglandin E syndrome: This rare disorder is characterized by excessive production of prostaglandins, leading to symptoms such as hypokalemia and metabolic alkalosis.
• Familial hypomagnesemia with hypercalciuria: This condition is caused by a defect in magnesium reabsorption, leading to low magnesium levels and high calcium levels.

Key diagnostic features:

• Genetic testing for BSND mutations can confirm the diagnosis of Bartter disease type 4a.
• Clinical presentation, including electrolyte imbalances and metabolic disturbances, can help differentiate this condition from other rare disorders.
• Imaging studies, such as ultrasound or CT scans, may be used to rule out other conditions that can present with similar symptoms.

References:

• [1] Konrad et al. (2003) - "Bartter syndrome type 4a" [6]
• [2] Bokhari et al. (2023) - "Differential Diagnosis of Bartter Syndrome" [7]
• [9] Only genetic testing provides the definite diagnosis.
• [10] Type 4a: CLCNKA (hClC-Ka) Chloride voltage-gated channel Ka: 1p36.13: ...