Generalized arterial calcification of infancy: two siblings with prolonged survival
Generalized arterial calcification of infancy: two siblings with prolonged survival
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DOI：
10.1007/s00431-005-0035-6
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发表时间：
2006-04-01
影响因子：
3.6
通讯作者：
Rutsch, F
中科院分区：
文献类型：
--
作者：
Ciana, G;Trappan, A;Rutsch, F
小儿全身性动脉钙化(OMIM；208000)，中膜钙化和内膜增生导致动脉狭窄。大多数受影响的患者表现为无法治疗的动脉高血压，并在生命的头几个月内死亡。这种疾病最近被认为与ENPP1突变有关。我们报告了两个兄弟姐妹的延长生存期，他们都携带复合杂合的ENPP1突变c.913C > A和c.1164+2T > A。在这两个兄弟姐妹中，动脉钙化发生了自发消退，降压治疗可以逐渐减少。在一些患者中，GACI的自然病程可能比以前认为的更有利。
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.