Hyper-Igd Syndrome

The Hyper-IgD syndrome is a rare autosomal recessive disease in which there will be recurrent attacks of chills and fever from the first year of life. The episodes adhere to 4-6 days and can be triggered by physiological stress such as vaccination or minor trauma.

The Hyper-IgD syndrome is more common in children with ancestors from Denmark, France and northern Europe and is caused by the mutation of a gene that codes for the mevalonate kinase – an enzyme that is essential for the synthesis of cholesterol. A reduction in the synthesis of anti-inflammatory proteins isoprenoid may be the cause of the clinical syndrome.

The Hyper-IgD syndrome is a rare autosomal recessive disease in which there will be recurrent attacks of chills and fever from the first year of life. The episodes adhere to 4-6 days and can be triggered by physiological stress such as vaccination or minor trauma. The Hyper-IgD syndrome is more common in children with ancestors from Denmark, France and northern Europe and is caused by the mutation of a gene that codes for the mevalonate kinase – an enzyme that is essential for the synthesis of cholesterol. A reduction in the synthesis of anti-inflammatory proteins isoprenoid may be the cause of the clinical syndrome. In addition to chills and fever or other symptoms such as abdominal pain, vomiting, headache and arthralgia occur. Other findings may be cervical lymphadenopathy, hepatosplenomegaly, arthritis, skin lesions (maculopapular erythema, petechiae or purpura), and oropharyngeal ulceration. Diagnosis is> 14 mg / ml due to history, examination and a serum IgD levels. Non-specific findings can be a leukocytosis and an increase in acute phase proteins during fever. Increased urinary excretion of Mevalonsäuren during seizures confirmed the diagnosis. Genetic tests are available, but are negative in 25% of patients. There is no clinically proven method to prevent acute attacks. Patients must reckon with throughout their lives to have appropriate attacks, although it seems that the episodes decrease after adolescence. NSAIDs and topical corticosteroids may sometimes relieve symptoms during seizures.

Health Life Media Team

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