Reticulotsütoosi

Reticulotsütoosi is a rare genetic disorder that affects the reticuloendothelial system, primarily impacting the spleen and lymph nodes. It is characterized by an accumulation of abnormal reticular cells, which are a type of white blood cell. This accumulation leads to significant enlargement of the spleen (splenomegaly) and lymph nodes (lymphadenopathy). The exact genetic mutation responsible for reticulotsütoosi varies among affected individuals, but it is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the altered gene for a child to develop the condition.

Symptoms of reticulotsütoosi typically manifest in infancy or early childhood and can include a distended abdomen due to the enlarged spleen, frequent infections, and a general failure to thrive. The abnormal reticular cells can also interfere with the normal production of blood cells, potentially leading to anemia, low platelet counts, and a compromised immune system. Diagnosis is usually made through a combination of clinical examination, imaging studies, and a biopsy of affected tissue to examine the characteristic cellular abnormalities. There is currently no cure for reticulotsütoosi, and treatment focuses on managing symptoms and complications. This may involve blood transfusions for anemia, antibiotics to treat infections, and in some severe cases, surgical removal of the spleen (splenectomy) to alleviate discomfort and reduce the risk of rupture. Prognosis varies depending on the severity of the disease and the effectiveness of symptom management.