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Generalized arterial calcification of infancy: two siblings with prolonged survival

Item Type:Article
Title:Generalized arterial calcification of infancy: two siblings with prolonged survival
Creators Name:Ciana, G. and Trappan, A. and Bembi, B. and Benettoni, A. and Maso, G. and Zennaro, F. and Ruf, N. and Schnabel, D. and Rutsch, F.
Abstract: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.
Keywords:GACI, Generalized Arterial Calcification Of Infancy, ENPP1, Hypophosphatemia
Source:European Journal of Pediatrics
Page Range:258-263
Date:April 2006
Official Publication:https://doi.org/10.1007/s00431-005-0035-6
PubMed:View item in PubMed

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