Generalized arterial calcification of infancy: Two siblings with prolonged survival

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)258-263
Number of pages6
JournalEuropean Journal of Pediatrics
Volume165
Issue number4
DOIs
Publication statusPublished - Apr 2006

Keywords

  • ENPP1
  • GACI
  • Generalized arterial calcification of infancy
  • Hypophosphatemia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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