摘要
SAMD9和SAMD9L基因突变可分别引起MIRAGE综合征和共济失调-全血细胞减少(ATXPC)综合征.本文报道3例与SAMD9/SAMD9L突变相关的疾病病例,其中包括1例SAMD9基因突变(c.3809T＞A,p.F1270Y)和2例SAMD9L基因突变(c.2675T＞G,p.M892R;c.1096T＞G,p.F366V 和 c.4517T＞C,p.L1506p),既往均未见报道.所有患儿均表现出反复感染、生长发育迟缓和骨髓增生异常的症状,并在不同程度上累及呼吸、消化、免疫、内分泌、神经、生殖等多系统.治疗方面,2例患儿定期输注免疫球蛋白后感染情况有所好转,1例患儿于1岁5月龄行造血干细胞移植后恢复良好.对于反复感染伴有骨髓增生异常、全血细胞减少、生长发育迟缓的儿童需考虑SAMD9/SAMD9L基因突变的可能,尽快基因检测明确诊断,以期早期发现、早期治疗,改善预后.
Abstract
Mutations in the SAMD9 and SAMD9L genes are associated with MIRAGE syndrome and AT-XPC syndrome,respectively.This study reports the clinical characteristics and genetic analysis of one case with SAMD9 mutation(c.3809T＞A,p.F1270Y)and two cases with SAMD9L mutations(c.2675T＞G,p.M892R;c.1096T＞G,p.F366V and c.4517T＞C,p.L1506p),none of which have been previously reported.All pa-tients presented with recurrent infections,growth retardation,and myelodys-plasia,with varying degrees of in-volvement of multiple systems,including respiratory,gastrointestinal,immune,endocrine,neurological,and reproductive systems.In terms of treatment,two patients underwent regular intravenous immunoglobulin and their clinical symptoms improved,while one patient had a favorable recovery following hematopoietic stem cell transplantation at the age of 1 year and 5 months of age.SAMD9/SAMD9L gene mutations,therefore,chould be considered in children with recurrent infections,myelodysplasia,pancytopenia,and growth retardation.Early genetic testing is crucial for timely diagnosis and treatment,which may improve patient outcomes.
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