婴儿广泛性动脉钙化症:存活期延长的两兄妹

• 作 者: Ciana G. Trappan A. Bembi B. F.Rutsch 高蕊
• 机 构: Klinik und Poliklinik für Kinder-und Jugendmedizin Allgemeine Kinderheilkunde,Universittsklinikum M
• 出 处: 世界核心医学期刊文摘(儿科学分册)
• 发表日期: 2006年08期
• 关键词: 动脉钙化 存活期 婴儿 抗高血压治疗 动脉中膜 复合性 高血压 出生后 病程 内膜

In generalized arterial calcification of infancy(OMIM no.208000),calcificat ion of the media and proliferation of the intima lead to arterial stenoses.Most affected patients present with untreatable arterial hypertension and die within the first months of life.The disease has recently been linked to mutations in ENPP1.We report two siblings with prolonged survival,both of whom carry the co mpound heterozygous ENPP1 mutations C.913C > A and c.1164+2T > A.In both sibli ngs,spontaneous regression of arterial calcifications occurred,and antihyperte nsive treatment could be tapered off gradually.In some patients,the natural co urse of GACI may be more favourable than previously assumed.

In generalized arterial calcification of infancy (OMIM no. 208000), calcificat ion of the media and proliferation of the intima lead to arterial stenoses. Patients affected with present and untreatable arterial hypertension and die within the first months of life. The disease has recently been been linked to mutations in ENPP1.We report two siblings with prolonged survival, both of whom carried the co mpound heterozygous ENPP1 mutations C.913C> A and c.1164 + 2T> A. Both both sibli ngs, spontaneous regression of arterial calcifications occurred, and antihyperte nsive treatment could be tapered off gradually.In some patients, the natural co urse of GACI may be more favourable than previously assumed.