婴儿广泛性动脉钙化症:存活期延长的两兄妹  

Generalized arterial calcification of infancy:Two siblings with prolonged survival

作　　者：Ciana G. Trappan A. Bembi B. F.Rutsch 高蕊 

机构地区：[1]Klinik und Poliklinik für Kinder-und Jugendmedizin,Allgemeine Kinderheilkunde,Universittsklinikum Münster,Albert-Schweitzer-Strasse 33,48149 Münster,Germany

出　　处：《世界核心医学期刊文摘（儿科学分册）》2006年第8期38-39,共2页

摘　　要：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）, calcification 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 compound heterozygous ENPP1 mutations C. 913C 〉 A and c. 1164 ＋ 2T 〉 A. In both siblings, spontaneous regression of arterial calcifications occurred, and antihypertensive treatment could be tapered off gradually. In some patients, the natural course of GACI may be more favourable than previously assumed.

关 键 词：存活期延长 动脉钙化 钙化症 兄妹 婴儿 抗高血压治疗 动脉中膜 P1基因 自然病程 患儿 

分 类 号：R512.91[医药卫生—内科学] R543.5[医药卫生—临床医学]