MKD stands for Mevalonate Kinase Deficiency, a rare genetic condition.
Understanding Mevalonate Kinase Deficiency (MKD)
Mevalonate kinase deficiency (MKD), previously known as hyperimmunoglobulin-D syndrome (HIDS), is a hereditary disease characterized by recurrent episodes of fever and other symptoms. This condition is primarily found in children, particularly in Western Europe, and results from a malfunctioning gene responsible for producing the mevalonate kinase (MVK) protein.
Key Aspects of MKD:
- Genetic Basis: MKD arises from an abnormal gene that controls the production of the MVK protein. This protein is crucial for various metabolic processes in the body.
- Recurrent Symptoms: Individuals with MKD experience periodic episodes of fever, which can be accompanied by a variety of other symptoms.
- Geographic Prevalence: The condition is most commonly diagnosed in children living in Western Europe.
- Past Terminology: MKD was formerly called hyperimmunoglobulin-D syndrome (HIDS), but the name was changed to reflect the underlying genetic cause.
Symptoms of MKD:
MKD presents a range of symptoms that can vary in severity from person to person. These commonly include:
- Recurrent fevers
- Abdominal pain
- Enlarged lymph nodes
- Skin rashes
- Joint pain
Diagnosis and Treatment
Diagnosis involves genetic testing to identify the mutated gene responsible for MKD. While there is no cure for MKD, treatments focus on managing symptoms and reducing the severity and frequency of episodes. These may include anti-inflammatory medications and other therapies.
Summary Table:
| Feature | Description |
|---|---|
| Name | Mevalonate Kinase Deficiency (MKD) |
| Previous Name | Hyperimmunoglobulin-D syndrome (HIDS) |
| Type | Rare Genetic Disease |
| Cause | Abnormal MVK Gene |
| Key Symptom | Recurrent Fevers |
| Prevalence | Primarily in Children in Western Europe |
| Treatment | Symptom Management, Anti-inflammatory Medications |
