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

doi:10.1007/s00431-005-0035-6

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

IRCCS pediatrico Burlo Garofolo

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	258-263
Number of pages	6
Journal	European Journal of Pediatrics
Volume	165
Issue number	4
DOIs	https://doi.org/10.1007/s00431-005-0035-6
Publication status	Published - Apr 2006

Keywords

ENPP1
GACI
Generalized arterial calcification of infancy
Hypophosphatemia

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1007/s00431-005-0035-6

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Generalized arterial calcification of infancy : Two siblings with prolonged survival. / Ciana, Giovanni; Trappan, Antonella; Bembi, Bruno; Benettoni, Alessandra; Maso, Giampaolo; Zennaro, Floriana; Ruf, Nico; Schnabel, Dirk; Rutsch, Frank.

In: European Journal of Pediatrics, Vol. 165, No. 4, 04.2006, p. 258-263.

Research output: Contribution to journal › Article › peer-review

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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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AU - Ruf, Nico

AU - Schnabel, Dirk

AU - Rutsch, Frank

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Generalized arterial calcification of infancy: Two siblings with prolonged survival

Abstract

Keywords

ASJC Scopus subject areas

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