Fanconi Bickel syndrome
Fanconi Bickel syndrome (pronounced: fan-KOH-nee BICK-el SIN-drome) is a rare genetic disorder characterized by the body's inability to properly process certain sugars and proteins. It is also known as glycogen storage disease type XI.
Etymology
The syndrome is named after Swiss pediatricians Guido Fanconi and Horst Bickel, who first described the condition in 1949.
Symptoms
The primary symptoms of Fanconi Bickel syndrome include hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), and proximal tubulopathy (kidney dysfunction). Other symptoms may include rickets (softening and weakening of bones), short stature, and failure to thrive.
Causes
Fanconi Bickel syndrome is caused by mutations in the SLC2A2 gene. This gene provides instructions for making a protein that transports glucose (a type of sugar) into cells. Mutations in the SLC2A2 gene disrupt this process, leading to the symptoms of Fanconi Bickel syndrome.
Diagnosis
Diagnosis of Fanconi Bickel syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include genetic testing, which can identify mutations in the SLC2A2 gene.
Treatment
There is currently no cure for Fanconi Bickel syndrome. Treatment is aimed at managing symptoms and improving quality of life. This may include dietary modifications to manage hypoglycemia and medications to treat kidney dysfunction.
Prognosis
The prognosis for individuals with Fanconi Bickel syndrome varies. Some individuals may live into adulthood with appropriate management, while others may experience severe complications.
See also
External links
- Medical encyclopedia article on Fanconi Bickel syndrome
- Wikipedia's article - Fanconi Bickel syndrome
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