carboxypeptidase N deficiency

Carboxypeptidase N Deficiency: A Rare Genetic Disorder

Carboxypeptidase N (CPN) deficiency is a rare autosomal recessive disorder characterized by the inability to properly regulate inflammation in the body. This condition is caused by mutations in the CPN1 gene, which encodes for the carboxypeptidase N enzyme.

Key Features of Carboxypeptidase N Deficiency:

• Episodic Angioedema: Patients with CPN deficiency often experience recurring episodes of angioedema, a condition characterized by swelling of the skin and mucous membranes.
• Chronic Urticaria: Many individuals with CPN deficiency also suffer from chronic urticaria, a condition marked by persistent hives or itchy skin.
• Asthma and Allergic Hypersensitivity: Some patients may experience asthma or allergic hypersensitivity reactions, which can be triggered by various substances.
• Anaphylatoxin and Bradykinin Accumulation: The deficiency of carboxypeptidase N leads to the accumulation of anaphylatoxins (C3a, C4a, C5a) and bradykinin in the body, contributing to inflammation and symptoms.

Other Relevant Information:

• Carboxypeptidase N is a serum metalloenzyme that normally inactivates various inflammatory mediators, including C3a, C4a, C5a, bradykinin, kallidin, and fibrinopeptides.
• The condition is inherited in an autosomal recessive manner, meaning that both copies of the CPN1 gene must be mutated for the individual to express the disorder.

References:

• Mathews et al. (1980) reported a case of carboxypeptidase N deficiency with low enzyme levels and recurrent angioedema episodes.
• Higgins et al. (2016) studied the role of carboxypeptidases in hemolytic uremic syndrome, highlighting the importance of proper regulation of inflammation.

Please note that this information is based on the search results provided within the context. If you have any further questions or would like me to elaborate on specific points, feel free to ask!

Carboxypeptidase N deficiency, also known as CPND, is a rare genetic disorder characterized by several symptoms. According to various sources [3][4][7], the signs and symptoms of CPND include:

• Episodic angioedema: Swelling in the face, lips, tongue, and other areas of the body, which can be severe and potentially life-threatening.
• Acute or chronic urticaria: Hives or itchy skin rashes that can appear on various parts of the body.
• Asthma: Respiratory symptoms such as wheezing, coughing, and shortness of breath.
• Allergic hypersensitivities: Symptoms similar to hay fever, including sneezing, itching, nasal congestion, and rhinorrhea [1][9].
• Abdominal pain or nausea: Severe abdominal pain, nausea, and vomiting can occur when the intestinal tract is involved.
• Dizziness and hypotension: Low blood pressure and dizziness are also associated with CPND.

It's essential to note that these symptoms can vary in severity and frequency among individuals with CPND [3][4]. If you suspect someone has this condition, it's crucial to consult a medical professional for proper diagnosis and treatment.

Based on the provided context, here are some diagnostic tests for carboxypeptidase N deficiency:

• Full gene sequencing: This test is used to diagnose carboxypeptidase N deficiency by analyzing the CPN1 gene. It can identify mutations and polymorphisms in the gene that may be associated with the condition (Source: [10])
• Carboxypeptidase N Deficiency Test: This test is designed to detect abnormalities in the CPN1 gene, including mutations and deletions. It can help diagnose carboxypeptidase N deficiency and rule out other conditions (Source: [11])
• Serum enzyme assays: These tests measure the levels of carboxypeptidase N in the blood. Low levels of this enzyme have been associated with carboxypeptidase N deficiency (Source: [9])

It's worth noting that the diagnostic yield for these tests may vary depending on the assay used, referring healthcare professional, hospital, and country (Source: [14]). Additionally, patients with carboxypeptidase N deficiency may be operated on unnecessarily due to challenging disease diagnosis (Source: [15]).

References:

[9] Matthews KP et al. (1980) - Cited by 115 [10] Carboxypeptidase N Deficiency: Full gene sequencing. GTR Test ID Help (Source: [10]) [11] Carboxypeptidase N Deficiency: Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. (Source: [11]) [14] Blueprint Genetics' CPN1 single gene test CPN1 single gene test. ... Carboxypeptidase N deficiency. Alternative gene name. Panels that include the gene ... (Source: [14]) [15] Disease diagnosis can be chal-lenging, and patients are operated for unnecessary laparotomy ... Kolmogorov-Smirnov statistical test of normality (D) provided a ... Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.

Carboxypeptidase N (CPN) deficiency, also known as Carboxypeptidase-N deficiency (CPND), is a rare genetic disorder characterized by episodic angioedema, acute or chronic urticaria, asthma, and other symptoms. The treatment of CPND focuses on managing the symptoms and preventing complications.

Current Treatment Options:

• Tranexamic acid: This medication has been used to treat CPND, but it can actually decrease survival in both genotypes [4].
• Fibrinolysis inhibitors: These inhibitors have been studied as potential treatments for CPND, but their effectiveness is still being researched.
• C1 esterase inhibitor (C1-INH): This medication has been used to treat hereditary angioedema (HAE), a related condition. However, its efficacy in treating CPND is not well established.

Emerging Therapies:

• Carboxypeptidase N inhibitors: These inhibitors have shown promise in improving endogenous fibrinolysis and may be beneficial for patients with CPND [7].
• Tissue plasminogen activator (t-PA) inhibitors: Combining t-PA inhibitors with CPU inhibitors has been explored as a potential treatment strategy, allowing lower dosing of t-PA and reducing bleeding complications [5].

Important Considerations:

• Treatment for CPND should be individualized based on the severity of symptoms and underlying health conditions.
• Patients with CPND may require ongoing management to prevent complications and improve quality of life.

References:

[4] - Tranexamic acid treatment in Cpb2(-/-) animals [4] [5] - CPU inhibitors combined with t-PA for improved thrombolysis [5] [7] - CPU inhibitors for improving endogenous fibrinolysis [7] [8] - Carboxypeptidase-N deficiency (CPND) is an autosomal recessive disorder [8]

Note: The information provided above 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.

Carboxypeptidase N (CPN) deficiency is a rare genetic disorder that affects the body's ability to regulate certain peptides, leading to various symptoms. When considering a differential diagnosis for CPN deficiency, several conditions should be taken into account:

• Hereditary Angioedema (HAE): This is a potentially life-threatening condition characterized by recurrent episodes of subcutaneous or submucosal swelling [5]. Patients with HAE may also experience angioedema or chronic urticaria, which are symptoms also associated with CPN deficiency.
• Chronic Urticaria: This condition involves recurring episodes of hives that can last for days to weeks. Some patients with CPN deficiency may present with chronic urticaria as part of their symptomatology [1].
• Hay Fever or Allergic Rhinitis: These conditions involve an allergic reaction to environmental allergens, leading to symptoms such as sneezing, runny nose, and itchy eyes. Patients with CPN deficiency may also experience hay fever or asthma as part of their presentation [1].
• Angioedema: This is a condition characterized by the rapid swelling of the skin and mucous membranes, which can be life-threatening if not treated promptly. Angioedema is a symptom associated with both HAE and CPN deficiency.
• Other conditions: Other conditions that may present with similar symptoms to CPN deficiency include autoimmune disorders, such as lupus or rheumatoid arthritis, and certain infections.

It's essential to note that the diagnosis of CPN deficiency requires genetic testing to confirm the presence of mutations in the CPN1 gene. A comprehensive medical history, physical examination, and laboratory tests can help differentiate CPN deficiency from other conditions with similar symptoms.

References: [1] Context result 1: Patients present some combination of angioedema or chronic urticaria, as well as hay fever or asthma ... [5] Context result 5: Hereditary angioedema (HAE) is a potentially life-threatening disorder characterized by recurrent episodes of subcutaneous or submucosal swelling.