Abstract:

Objective To improve the recognition of hyper-IgD and periodic fever syndrome (HIDS). Methods The clinical features, laboratory examinations , serum IgD and MVK level, and also MVK gene detection results were retrospectively summarized in HIDS patient. Results A 6.6 years old boy was admitted to our hospital due to periodic fever from 2 years old. The periodic episodes of fever occurred every 2 to 4 weeks, and lasted for 3 to 7 days everytime, accompanied with abdominal pain, diarrhea, joint pain and with liver and spleen enlargement. The fever could spontaneously resolved without antibiotic treatment. The amount of WBC, neutrophil and CRP increased with the fever, and decrease to the normal level once the fever resolved. The patients had the history of fever episodes and infection symptom after immunization. The infectious disease, rheumatic disease and neoplastic hematologic disorder were ruled out by detailed and systemic examination. The pathogenic compound heterozygous mutations of MVK gene:，p.V377I (c.1129G>A) and p.Leu264fsX12 (c.790_791insC, novel mutation) were found and HIDS was diagnosed. The much higher serum level of IgD (1 084 μg·mL-1) and lower MVK level (23 ng·mL-1) were further detected and HIDS was confirmed. Conclusion The clinical diagnosis of HIDS should be suspected in cases with periodic fever onset from infant period. Immunization induced fever episode was the important clue of the HIDS diagnosis. The levels of serum IgD and MVK were the diagnostic basis and the MVK gene mutation could clarify the HIDS diagnosis.