isolated hyperchlorhidrosis

Isolated Hyperchlorhidrosis: A Rare Genetic Condition

Isolated hyperchlorhidrosis, also known as Carbonic anhydrase XII deficiency, is a rare autosomal recessive genetic condition characterized by excessive loss of salt (sodium chloride or NaCl) in sweat. This leads to various symptoms, including severe infantile hyponatremic dehydration and hyperkalemia.

Key Features:

• Excessive loss of salt (sodium chloride or NaCl) in sweat
• High levels of chloride found in sweat
• Lower than normal levels of salt in the blood due to excessive sweating
• Severe infantile hyponatremic dehydration and hyperkalemia

According to various sources, isolated hyperchlorhidrosis is an autosomal recessive condition, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. This rare genetic disorder can result in severe symptoms if left untreated.

References:

• [1] Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat, leading to various symptoms. [1]
• Excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia. [3][5][9]
• Isolated hyperchlorhidrosis is an autosomal recessive condition, meaning that a person must inherit two copies of the mutated gene to develop the condition. [3][5]

Signs and Symptoms of Isolated Hyperchlorhidrosis

Isolated hyperchlorhidrosis, a rare genetic skin disease, presents with several distinct signs and symptoms. These include:

• Excessive salt wasting in sweat: The condition is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat, leading to hyponatremic dehydration.
• Hyponatremia: Low sodium levels in the blood can cause a range of symptoms, including weakness, fatigue, and seizures.
• Hyperkalemia: High potassium levels in the blood can lead to muscle weakness, heart arrhythmias, and other complications.
• Poor feeding and slow weight gain in infancy: Infants with isolated hyperchlorhidrosis may experience difficulty feeding and fail to gain weight at a normal rate.

Additionally, episodes of dehydration and electrolyte imbalances typically follow mild illnesses that cause vomiting or diarrhea. These episodes can be severe and require prompt medical attention.

Clinical signs and symptoms

According to the National Center for Advancing Translational Sciences (NCATS), isolated hyperchlorhidrosis is characterized by:

• Excessive chloride secretion in sweat, leading to a positive sweat test
• Hyponatremic dehydration
• Hyperkalemia
• Poor feeding and slow weight gain in infancy

These signs and symptoms are distinct from those of other conditions, such as cystic fibrosis, which can also present with excessive chloride secretion in sweat.

References

• [1] Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat. In particular, "hyperchlorhidrosis" refers to the high levels of ... signs and symptoms of these other conditions. Frequency Isolated hyperchlorhidrosis is a rare condition, although its prevalence is unknown. The [1]
• [7] Clinical signs and symptoms observed in isolated hyperchlorhidrosis. Source: EFO, MONDO, HPO.
• [9] Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat. In particular, "hyperchlorhidrosis" refers to the ... people with isolated hyperchlorhidrosis do not have the additional signs and symptoms of these other conditions. Frequency. Isolated hyperchlorhidrosis is a rare condition [9]
• [11] Isolated hyperchlorhidrosis, also known as Carbonic anhydrase XII deficiency, is a rare autosomal recessive genetic condition characterized by a lifelong tendency to lose massive amounts of sodium and chloride through sweat which leads to various symptoms.

Diagnostic Tests for Isolated Hyperchlorhidrosis

Isolated hyperchlorhidrosis, also known as carbonic anhydrase XII deficiency, can be diagnosed through various laboratory tests and examinations.

• Blood tests: Blood samples are taken to measure the levels of sodium chloride (NaCl) in the blood. This test is used to confirm the diagnosis of isolated hyperchlorhidrosis.
• Urinalysis: A urinalysis test is performed to check for any abnormalities in the urine, such as high levels of aldosterone or potassium.
• Renal function tests: These tests are used to assess the functioning of the kidneys and rule out any other underlying conditions that may be causing the symptoms.
• Blood pH tests: Blood pH tests are conducted to measure the acidity or alkalinity of the blood. This test helps in confirming the diagnosis of isolated hyperchlorhidrosis.

Additional Tests

In some cases, additional tests such as:

• Genetic testing: Genetic testing can be performed to confirm the presence of a mutation in the CA12 gene.
• Sweat analysis: Sweat analysis may be conducted to measure the levels of sodium chloride (NaCl) in sweat.

These diagnostic tests are typically performed by a healthcare professional, such as a dermatologist or geneticist, and are used to confirm the diagnosis of isolated hyperchlorhidrosis.

References

[1] Isolated hyperchlorhidrosis. Suggest an update ... Diagnostic tests (1) Patient organisations (76) Federation/alliance(s) (38) ... [Context 3]

[2] Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request). Test Limitations: All ... [Context 5]

[3] Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat. In particular, "hyperchlorhidrosis" refers to ... [Context 6]

[4] Isolated hyperchlorhidrosis (HYCHL) is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by Muhammad et al., 2011). [Context 1 & 7]

[5] Laboratory tests done on patients with this condition typically show hyperkalemia, high levels of aldosterone, ... [Context 12]

Treatment Options for Isolated Hyperchlorhidrosis

Isolated hyperchlorhidrosis, a rare autosomal recessive condition characterized by excessive salt wasting in sweat, can be effectively managed with drug treatment.

• Sodium Supplementation: Sodium supplementation has been found to be an effective treatment option for isolated hyperchlorhidrosis. This is because the condition involves excessive loss of sodium chloride (NaCl) in sweat. By supplementing sodium, individuals with this condition can help restore normal electrolyte levels and alleviate symptoms.
  • According to search result [2], sodium supplementation was effective in treating isolated hyperchlorhidrosis.
• Other Therapeutic Options: While specific drug treatments for isolated hyperchlorhidrosis are not well-established, complementary care may be used alongside standard treatment to manage symptoms. This can include various therapies such as dietary changes or supplements.

Important Considerations

It's essential to consult with a healthcare professional for medical advice and treatment. They can help determine the best course of action based on individual needs and circumstances.

• As stated in search result [3], "The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment."

References

[1] Search result 5: Sodium supplementation was effective treatment. [2] Search result 2: May 1, 2014 — Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat. [3] Search result 3: The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Differential Diagnosis of Isolated Hyperchlorhidrosis

Isolated hyperchlorhidrosis, also known as Carbonic anhydrase XII deficiency, is a rare autosomal recessive genetic condition characterized by excessive salt wasting in sweat. When diagnosing this condition, it's essential to consider other possible causes that may present similar symptoms.

Conditions with Similar Symptoms:

• Cystic Fibrosis: Excessive chloride secretion in sweat (hyperchlorhidrosis) is most commonly indicative of cystic fibrosis [5][6]. However, isolated hyperchlorhidrosis can also cause a positive sweat test, making differential diagnosis crucial.
• Hyponatremic Dehydration: Severe infantile hyponatremic dehydration and hyperkalemia are symptoms that can be associated with both isolated hyperchlorhidrosis and other conditions [13][14].
• Genetic Disorders: DNAJC21 EFL1 SBDS, among others, are genetic disorders that may present similar symptoms to isolated hyperchlorhidrosis in the differential diagnosis of cystic fibrosis [13].

Diagnostic Teams:

Establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis. Diagnostic teams for isolated hyperchlorhidrosis may include:

• Dermatology: To assess skin symptoms and conditions.
• Genetics: To evaluate genetic factors and mutations associated with the condition.

Key Points:

• Isolated hyperchlorhidrosis is a rare autosomal recessive genetic condition characterized by excessive salt wasting in sweat.
• Differential diagnosis is crucial to distinguish isolated hyperchlorhidrosis from other conditions that may present similar symptoms, such as cystic fibrosis and hyponatremic dehydration.
• A consistent autosomal-recessive phenotype of hyperchlorhidrosis does exist and should be considered in the differential diagnosis of a positive sweat test [12].

References:

[5] Feldshtein M. Excessive chloride secretion in sweat (hyperchlorhidrosis), leading to a positive sweat test, is most commonly indicative of cystic fibrosis yet is found in isolated hyperchlorhidrosis.

[6] Feldshtein M. Excessive chloride secretion in sweat (hyperchlorhidrosis), leading to a positive sweat test, is most commonly indicative of cystic fibrosis.

[12] We have thus shown that a consistent autosomal-recessive phenotype of hyperchlorhidrosis does exist and should be considered in the differential diagnosis of a positive sweat test, especially in the context of hyponatremic dehydration during infancy.

[13] Isolated hyperchlorhidrosis (OMIM 143860) AR: ↑ sweat chloride levels, poor weight gain, growth deficiency: Can lead to severe infantile hyponatremic dehydration & hyperkalemia: DNAJC21 EFL1 SBDS ... [Genetic Disorders in the Differential Diagnosis of Cystic Fibrosis]. - GeneReviews®