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Case Reports
. 2006 Apr;165(4):258-63.
doi: 10.1007/s00431-005-0035-6. Epub 2005 Nov 29.

Generalized arterial calcification of infancy: two siblings with prolonged survival

Giovanni Ciana  1 , Antonella Trappan, Bruno Bembi, Alessandra Benettoni, Giampaolo Maso, Floriana Zennaro, Nico Ruf, Dirk Schnabel, Frank Rutsch
Affiliations
Case Reports

Generalized arterial calcification of infancy: two siblings with prolonged survival

Giovanni Ciana et al. Eur J Pediatr. 2006 Apr.

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.

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