Retikulotsütoosi

Retikulotsütoosi, also known as reticuloendotheliosis, is a rare, generally fatal, inherited metabolic disorder affecting the reticuloendothelial system. This system, which includes cells in the spleen, lymph nodes, bone marrow, and liver, is responsible for engulfing and removing waste materials and pathogens from the body. In reticulotsütoosi, a deficiency in specific lysosomal enzymes leads to the accumulation of undigested substances within these cells. This accumulation disrupts normal cellular function and leads to progressive organ damage.

The disorder typically presents in infancy with symptoms such as fever, enlarged spleen and liver (hepatosplenomegaly), anemia, and neurological abnormalities. Affected individuals may also experience recurrent infections due to impaired immune function. The exact genetic defect varies depending on the specific enzyme deficiency, but it is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for a child to be affected. Diagnosis is usually made through biochemical tests that measure enzyme activity and genetic analysis. Unfortunately, there is no cure for reticulotsütoosi, and treatment focuses on managing symptoms and providing supportive care. Due to its severe nature and progressive course, the prognosis is generally poor.