DiGeorge综合征继发自身免疫现象长期随诊1例及文献复习

Autoimmune disorder secondary to DiGeorge syndrome: a long-term follow-up case report and literature review

DiGeorge综合征是人类最常见的染色体微缺失疾病,常表现为先天性心脏病、甲状腺功能低下、免疫功能低下、特殊面容、腭裂及低钙血症,还可以出现发育不良、精神异常、学习能力下降、语言功能障碍等神经精神系统表现,根据患儿是否有胸腺缺失或发育不完全分为完全型和部分型两种,部分性DiGeorge综合征的免疫缺陷不明显,但容易并发自身免疫性疾病或自身免疫现象。

DiGeorge syndrome is the most common chromosome microdeletion disease. The classical complications include congenital heart disease,hypothyroidism,immunodeficiency,facial abnormalities,and hypocalcemia. According to whether there is an absence or hypoplasia of the thymus,DiGeorge syndrome can be divided into two types,complete DiGeorge syndrome and partial DiGeorge syndrome. The patient was a female born with congenital heart disease,facial abnormalities and cleft palate. When thepatient went to school,she had learning difficulty and had problems in communication and personal social behavior. Breath-holding occurred when she was 6 years old. She got infections about 2-3 times a year,which was easy to be cured each time. Chromosome microdeletion test of peripheral blood showed the classical 22q11. 2 microdeletion,and no evidence showed that she has thymus absence,thus her disease was diagnosed as partial DiG eorge syndrome. When the patient was 6 years old,the blood routine test showed slight thrombocytopenia,and reexaminations after that indicated the similar result. When 9 years old,she was found with anemia and severe thrombocytopenia. At the age of 10,the patient was admitted to our hospital,complaining of petechia in the body and mucous of mouth. According to the various examinations results,doctors eventually considered the situation as an autoimmune disorder phenomenon.After being treated by pulse-dose methylprednisolone for three days,the bleeding ceased. Then the patient orally took prednisone acetate and pulse-dose cyclophosphamide,however the thrombocyte and hemoglobin levels had not been back to a normal range. But when the dose of prednisone acetate was reduced,the blood platelet count declined again while the hemoglobin kept normal. The long-term followup of this case lasted for more than 20 years. Until now,the patient is taking orally prednisone acetate as a maintainance treatment,and the anemia has been improved since,but thrombocytopenia still exists.The mechanism of DiG eorge syndrome in combination with immunodeficiency is still unclear. The most likely reason is that this phenomenon has some relationship with the dysfunction of the thymus and finally had an effect on the function of T cells. The clinical manifestation is always stubborn and need treatment and follow-up visit for a long time