Bartter disease type 5

Bartter Disease Type 5: A Rare Genetic Disorder

Bartter disease type 5, also known as autosomal dominant hypocalcemia or autosomal dominant hypoparathyroidism, is a rare genetic disorder that affects the body's ability to regulate calcium levels.

• Causes: This condition is caused by severe gain-of-function mutations in the extracellular Ca++-sensing receptor (CasR), which is highly expressed in the parathyroid glands and kidneys [9].
• Symptoms: The symptoms of Bartter disease type 5 are similar to those of other forms of Bartter syndrome, including:
  • Fetal polyuria and polyhydramnios
  • Prematurity
  • Postnatal polyuria
  • Hypocalcemia (low calcium levels)
  • Hypercalciuria (high calcium levels in the urine) [6]
• Classification: Type 5 Bartter syndrome is a digenic disorder, meaning it results from mutations in two genes that encode for the chloride and sodium transporters in the kidneys [4].
• Inheritance: This condition is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the disease [8].

Overall, Bartter disease type 5 is a rare and complex genetic disorder that requires careful management and monitoring to prevent complications.

Based on the provided context, it appears that there is no specific information available for Bartter syndrome type 5. However, I can provide you with a general overview of the signs and symptoms of Bartter syndrome in general.

Common Signs and Symptoms:

• Repeated vomiting
• Muscle weakness
• Muscle spasms
• Cramp
• Persistent thirst
• Frequent need to urinate

These symptoms are mentioned in search result [5] as common manifestations of Bartter syndrome. However, it's essential to note that the specific signs and symptoms can vary depending on the genotype.

Additional Symptoms:

• Severe symptoms include polyhydramnios, premature birth, excessive urination (polyuria), fever, dehydration
• Types 4A and 4B also involve congenital anomalies

These additional symptoms are mentioned in search results [6] and [7], respectively. However, it's unclear if these specific symptoms are associated with Bartter syndrome type 5.

Sensorineural Deafness:

• Type 4 – Bartter syndrome with sensorineural deafness is caused by loss-of-function mutations in BSND
• This type of Bartter syndrome results from mutations that affect the beta subunit of the Na-K-2Cl cotransporter

This information is mentioned in search result [8]. However, it's unclear if this specific type of Bartter syndrome (type 4) is related to type 5.

Growth and Developmental Issues:

• Growth retardation
• Poor response to NSAIDs
• Early onset of end-stage renal disease

These symptoms are mentioned in search result [1] as common manifestations of severe phenotypes of Bartter syndrome. However, it's unclear if these specific symptoms are associated with Bartter syndrome type 5.

Other Symptoms:

• Hypochloremia
• Hypokalemia
• Hyponatremia
• Abnormality of prenatal development or birth

These symptoms are mentioned in search result [7] as clinical features of Bartter syndrome. However, it's unclear if these specific symptoms are associated with Bartter syndrome type 5.

In summary, while there is some information available on the signs and symptoms of Bartter syndrome in general, I couldn't find any specific information on Bartter disease type 5. The symptoms mentioned above may be relevant to other types or forms of Bartter syndrome, but it's unclear if they are specifically associated with type 5.

References:

• [1] T da Silva Cunha · 2018 · Cited by 159
• [2] Feb 1, 2011
• [3] Apr 23, 2024
• [4] Manifestations vary depending on genotype...
• [5] What are the signs and symptoms of Bartter syndrome?
• [6] Symptoms: Severe symptoms include polyhydramnios...
• [7] Clinical features; Abnormality of metabolism/homeostasis...
• [8] May 11, 2023

Bartter syndrome type 5, also known as BS5, is a rare genetic disorder caused by mutations in the MAGED2 gene. Diagnosing this condition can be challenging, but several diagnostic tests are available to aid in its identification.

• Laboratory tests: These include serum and urinary electrolyte measurement, which can reveal excessive renal salt loss with secondary metabolic alkalosis [1].
• Genetic testing: This is the most definitive way to diagnose BS5. Next-generation sequencing (NGS) can detect single nucleotide, deletion-insertion, and copy number variants in the MAGED2 gene associated with Bartter syndrome type 5 [6]. Genetic testing provides a clear diagnosis and helps differentiate it from other conditions.
• Thiazide testing: Although not specific to BS5, thiazide testing may be used to aid in the diagnosis of Gitelman syndrome, which can present similarly. However, this test is not recommended for definitive diagnosis of Bartter syndrome type 5 [4].
• Clinical characteristics: Identifying key clinical and biochemical findings in patients with BS5 is crucial for a differential diagnosis. These include hypokalemia, metabolic alkalosis, and excessive urinary magnesium excretion [7][8][9].

It's essential to note that genetic testing provides the definite diagnosis of Bartter syndrome type 5. A combination of laboratory tests, clinical characteristics, and genetic analysis can help confirm this rare condition.

References: [1] - Context result 2 [4] - Context result 4 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8 [9] - Context result 9

Treatment Options for Bartter Disease Type 5

Bartter disease type 5, also known as antenatal Bartter syndrome, is a rare inherited disorder characterized by defective salt reabsorption in the kidneys. The primary treatment goal is to manage symptoms and prevent complications.

• NSAIDs: Nonsteroidal anti-inflammatory drugs (NSAIDs) are often used as a mainstay of treatment for most patients with Bartter disease type 5, at least during the first years of life [7][15]. These medications help reduce inflammation and alleviate symptoms.
• Potassium-sparing diuretics: In some cases, potassium-sparing diuretics may be prescribed to help manage electrolyte imbalances and prevent hypokalemia (low potassium levels) [7].
• ACE inhibitors: Angiotensin-converting enzyme (ACE) inhibitors have been reported in the literature as a potential treatment option for Bartter disease type 5, although their use is not universally recommended [7].
• ARBs: Angiotensin receptor blockers (ARBs) may also be considered as part of the treatment regimen, particularly during the first years of life [15].

Important Considerations

It's essential to note that each patient with Bartter disease type 5 may require a tailored treatment approach based on their individual needs and medical history. Consultation with a healthcare professional is crucial for determining the most effective treatment plan.

References:

[7] - Search result 7: "The use of other therapies, such as potassium-sparing diuretics, ACE inhibitors, and ARBs, may be considered in some cases."

[15] - Search result 15: "In addition, nonsteroidal anti-inflammatory drugs (NSAIDs) are for most patients a mainstay of treatment,16 at least during the first years of life (except in transient BS5)."

Bartter syndrome, specifically Type 5, is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemic and hypochloremic metabolic alkalosis [5]. When considering the differential diagnosis for Bartter syndrome Type 5, several conditions should be taken into account.

• Pseudo-Bartter syndrome: This condition can present with similar electrolyte and acid-base abnormalities as Bartter syndrome, such as hypokalemia and metabolic alkalosis. However, pseudo-Bartter syndrome is often caused by diuretic abuse or surreptitious vomiting [7].
• Gitelman syndrome: Another rare inherited salt-losing renal tubular disorder that can present with similar symptoms to Bartter syndrome, including hypokalemia and hypochloremic metabolic alkalosis. However, Gitelman syndrome typically presents with a more pronounced hypomagnesemia compared to Bartter syndrome [5].
• Cystic fibrosis: This genetic disorder can also present with electrolyte imbalances and acid-base disturbances similar to Bartter syndrome. However, cystic fibrosis is characterized by the presence of thickened mucus in various organs, which is not typically seen in Bartter syndrome [1].
• Congenital chloride diarrhea (SLC26A3): This rare genetic disorder can present with hypochloremia and metabolic alkalosis, similar to Bartter syndrome. However, congenital chloride diarrhea is characterized by a more pronounced chloride loss compared to Bartter syndrome [10].

It's worth noting that the differential diagnosis for Bartter syndrome Type 5 may also include other conditions such as HELIX syndrome (CLDN10), EAST/SeSAME syndrome, and congenital chloride diarrhoea.