Gaucherkórban

Gaucherkórban is a rare genetic disorder that affects the body's ability to break down a fatty substance called glucocerebroside. This leads to a buildup of glucocerebroside in various organs, most notably the spleen, liver, and bone marrow. It is an autosomal recessive condition, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

There are three main types of Gaucherkórban, each with varying severity and progression. Type 1 is the most common and generally the least severe, often presenting in adulthood with symptoms such as enlarged spleen and liver, bone pain, and anemia. Type 2 is a severe, early-onset form that typically affects infants and can lead to neurological damage, including seizures and developmental delay. Type 3 is also a chronic form, but it can involve progressive neurological symptoms that may not appear until later in childhood or adolescence.

Diagnosis of Gaucherkórban is usually made through a combination of clinical evaluation, blood tests to measure enzyme activity, and genetic testing. Treatment options include enzyme replacement therapy, which aims to provide the missing enzyme to help break down glucocerebroside, and substrate reduction therapy, which reduces the production of glucocerebroside. Management focuses on alleviating symptoms and preventing complications.