Wiskott–Aldrich syndrome
Wiskott–Aldrich syndrome (pronunciation: wɪˈskɒt ˈɔːldrɪtʃ) is a rare, often severe X-linked recessive disease that affects both the immune system and the ability of the blood to clot.
Etymology
The syndrome is named after two physicians, Dr. Alfred Wiskott, a German pediatrician who first noticed the condition in 1937, and Dr. Robert Aldrich, an American pediatrician who described the disease in a family of Dutch-Americans in 1954.
Symptoms
The primary symptoms of Wiskott–Aldrich syndrome include an increased susceptibility to infections, eczema, and a tendency to bleed easily due to a low platelet count, a condition known as thrombocytopenia.
Causes
Wiskott–Aldrich syndrome is caused by mutations in the WAS gene, which provides instructions for making a protein that is crucial for the normal function of several types of cells in the immune system and for the formation of blood clots.
Diagnosis
Diagnosis of Wiskott–Aldrich syndrome is based on clinical symptoms, a family history of the disease, and specialized blood tests. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Wiskott–Aldrich syndrome may include medications to manage symptoms, immunoglobulin therapy to boost the immune system, and in severe cases, a stem cell transplant.
Prognosis
The prognosis for individuals with Wiskott–Aldrich syndrome varies. Some individuals have a mild form of the disease, while others may have severe symptoms and complications. Early diagnosis and treatment can improve the prognosis.
See also
External links
- Medical encyclopedia article on Wiskott–Aldrich syndrome
- Wikipedia's article - Wiskott–Aldrich syndrome
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