Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report.
Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report.
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DOI：
10.1186/s12887-018-1198-4
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发表时间：
2018-07-05
期刊：
影响因子：
2.4
通讯作者：
Panuel M
中科院分区：
文献类型：
--
作者：
Brunod I;Tosello B;Hassid S;Gire C;Thomachot L;Panuel M
泛发性婴儿动脉钙化（GACI）是一种遗传性异位矿化疾病，导致弥漫性动脉钙化和/或狭窄，主要由ENPP 1基因突变引起。在这里，我们提出了一个病例报告GACI的男性婴儿与一个新的家族性突变的ENPP 1基因和临床结果后，双膦酸盐治疗。临床表现的特点是一个严重的早发性高血压难治性多种治疗。为了研究这种非典型高血压，进行了肾脏多普勒超声检查，并检测到弥漫性回声明亮动脉;然后进行了低剂量全身计算机断层扫描，显示广泛的动脉钙化，提示GACI。在ENPP 1基因中检测到一个新的纯合突变c.784A > G（p.Ser262Gly）。婴儿服用了四个疗程的双磷酸盐：发现动脉钙化减少，但严重的难治性高血压持续存在。虽然GACI可能是一种快速致死性疾病，并经常导致婴儿死亡，但在撰写本报告时，患者年龄为24个月。三个兴趣点：第一个是提醒临床医生在患有严重高血压的新生儿和患有心肌病和非免疫性水肿胎儿的胎儿中注意这种罕见和非典型的病因。第二点是在ENPP 1基因中鉴定出与GACI临床表现相关的新突变。第三点是我们的病人在双磷酸盐治疗后的结果相当好，钙化消退，但没有高血压。
Generalized Arterial Calcification of Infancy (GACI) is a heritable ectopic mineralization disorder resulting in diffuse arterial calcifications and/or stenosis, mostly caused by mutations in the ENPP1 gene. Here we present a case report of GACI in a male infant with a new familial mutation of the ENPP1 gene and the clinical outcome after biphosphonates therapy. The clinical presentation was characterized by a severe early-onset of hypertension refractory to multiple therapy. To investigate this atypical hypertension, a renal Doppler ultra-sonography was performed and diffuse echo-bright arteries were detected; then a low-dose whole-body computed tomography demonstrated extensive arterial calcifications, suggesting GACI. A novel homozygous mutation c.784A > G (p.Ser262Gly) was detected in the ENPP1 gene. The infant was administered four courses of bisphosphonates: arterial calcifications were found to decrease but severe refractory hypertension was persistent. Although GACI can be a rapidly fatal illness and frequently results in death in infancy, the patient was 24 months of age at the time of writing this report. Three points of interest: the first one is to remind clinicians of this rare and atypical etiology in neonates with severe hypertension and in fetuses with cardiomyopathy and non-immune hydrops fetalis. The second point is the identification of a novel mutation in the ENPP1 gene associated with a clinical presentation of GACI. The third point is the fairly favourable outcome of our patient after bisphosphonates therapy, with calcifications regression but not hypertension.
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DOI：
10.1073/pnas.1319582110
发表时间：
2013-12-10
影响因子：
11.1
作者：
Jansen, Robert S.;Kucukosmanoglu, Asli;van de Wetering, Koen
通讯作者：
van de Wetering, Koen
影响因子：
3.6
作者：
Ciana, G;Trappan, A;Rutsch, F
通讯作者：
Rutsch, F
影响因子：
64.8
作者：
FLEISCH, H;RUSSEL, RGG;STRAUMANN, F
通讯作者：
STRAUMANN, F
DOI：
10.1161/atvbaha.114.304017
发表时间：
2014-09
期刊：
Arteriosclerosis, thrombosis, and vascular biology
影响因子：
--
作者：
Jansen RS;Duijst S;Mahakena S;Sommer D;Szeri F;Váradi A;Plomp A;Bergen AA;Oude Elferink RP;Borst P;van de Wetering K
通讯作者：
van de Wetering K
影响因子：
5
作者：
Greenberg, SB;Gibson, J
通讯作者：
Gibson, J