科研之友
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摘要
Hemophagocytic lymphohistiocytosis (HLH) is a high-fatality disease caused by hereditary or acquired immune dysfunction, and is characterized by pathological inflammatory response. Primary HLH (pHLH) has hereditary genetic defects, and secondary HLH (sHLH) is caused by a variety of underlying diseases. Here, we report the case of a patient with aggressive natural killer cell leukemia and HLH-related gene defects who achieved long-term survival after treatment. A 20-year-old man presented to our hospital with symptoms of fever and fatigue. Investigations revealed splenomegaly, cytopenia, hyperferritinemia, hypofibrinogenemia, elevated levels of soluble CD25 ( sCD25), and hemophagocytosis in bone marrow. Bone marrow flow cytometry showed 23.4% abnormal natural killer cells, the cells were CD2, CD7, CD16, CD94, NKG2A positive, met the diagnosis of aggressive NK-Cell leukemia. Investigation of the patient's pedigree revealed that mutations of pHLH-related genes (LYST and UNC13D) were inherited from his father and mother, but neither of the parents had the disease. The patient received hematopoietic stem-cell transplantation (HSCT), after which he achieved complete remission. As of 2020-10-19, the patient's survival has exceeded 3 years, and he has returned to his normal life. A variety of factors contribute to the onset of HLH, and this case gives greater insight into the etiology of HLH. Allogeneic HSCT is a key treatment for HLH patients with underlying genetic mutations.
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单位南方医科大学
