| 1 | 婴儿广泛性动脉钙化症:存活期延长的两兄妹显示文摘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. | Ciana G. Trappan A. Bembi B. F.Rutsch 高蕊 | 2006 | 世界核心医学期刊文摘(儿科学分册)2006，2，8： | 2 |
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