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Generalized arterial calcification of infancy: two siblings with prolonged survival.
Eur J Pediatr. 2006 Apr; 165(4):258-63.EJ

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.

Authors+Show Affiliations

S.C. di Neonatologia e Terapia Intensiva Neonatale, Istituto per l'Infanzia Burlo Garofolo, Via dell'Istria 65/1-34100, Trieste, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16315058

Citation

Ciana, Giovanni, et al. "Generalized Arterial Calcification of Infancy: Two Siblings With Prolonged Survival." European Journal of Pediatrics, vol. 165, no. 4, 2006, pp. 258-63.
Ciana G, Trappan A, Bembi B, et al. Generalized arterial calcification of infancy: two siblings with prolonged survival. Eur J Pediatr. 2006;165(4):258-63.
Ciana, G., Trappan, A., Bembi, B., Benettoni, A., Maso, G., Zennaro, F., Ruf, N., Schnabel, D., & Rutsch, F. (2006). Generalized arterial calcification of infancy: two siblings with prolonged survival. European Journal of Pediatrics, 165(4), 258-63.
Ciana G, et al. Generalized Arterial Calcification of Infancy: Two Siblings With Prolonged Survival. Eur J Pediatr. 2006;165(4):258-63. PubMed PMID: 16315058.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Generalized arterial calcification of infancy: two siblings with prolonged survival. AU - Ciana,Giovanni, AU - Trappan,Antonella, AU - Bembi,Bruno, AU - Benettoni,Alessandra, AU - Maso,Giampaolo, AU - Zennaro,Floriana, AU - Ruf,Nico, AU - Schnabel,Dirk, AU - Rutsch,Frank, Y1 - 2005/11/29/ PY - 2005/06/06/received PY - 2005/09/18/accepted PY - 2005/09/12/revised PY - 2005/11/30/pubmed PY - 2007/8/19/medline PY - 2005/11/30/entrez SP - 258 EP - 63 JF - European journal of pediatrics JO - Eur J Pediatr VL - 165 IS - 4 N2 - 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. SN - 0340-6199 UR - https://www.unboundmedicine.com/medline/citation/16315058/Generalized_arterial_calcification_of_infancy:_two_siblings_with_prolonged_survival_ L2 - https://dx.doi.org/10.1007/s00431-005-0035-6 DB - PRIME DP - Unbound Medicine ER -