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01-04-2006 | Original Paper

Generalized arterial calcification of infancy: two siblings with prolonged survival

Authors: Giovanni Ciana, Antonella Trappan, Bruno Bembi, Alessandra Benettoni, Giampaolo Maso, Floriana Zennaro, Nico Ruf, Dirk Schnabel, Frank Rutsch

Published in: European Journal of Pediatrics | Issue 4/2006

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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Title: Generalized arterial calcification of infancy: two siblings with prolonged survival
Authors: Giovanni Ciana
Antonella Trappan
Bruno Bembi
Alessandra Benettoni
Giampaolo Maso
Floriana Zennaro
Nico Ruf
Dirk Schnabel
Frank Rutsch
Publication date: 01-04-2006
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 4/2006
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-005-0035-6

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Generalized arterial calcification of infancy: two siblings with prolonged survival

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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