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European Journal of Pediatrics

, Volume 165, Issue 4, pp 258–263 | Cite as

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 RutschEmail author
Original Paper

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.

Keywords

Generalized arterial calcification of infancy GACI ENPP1 Hypophosphatemia 

Abbreviations

GACI

Generalized arterial calcification of infancy

E-NPP1

Ecto-Nucleotide Pyrophosphatase/phosphodiesterase 1

PPi

Inorganic Pyrophosphate

TmP/GFR

Maximal tubular phosphate reabsorption per glomerular filtration rate

Notes

Acknowledgement

F.R. is supported by a grant from the Deutsche Forschungsgemeinschaft.

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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Giovanni Ciana
    • 1
  • Antonella Trappan
    • 1
  • Bruno Bembi
    • 2
  • Alessandra Benettoni
    • 3
  • Giampaolo Maso
    • 4
  • Floriana Zennaro
    • 5
  • Nico Ruf
    • 6
  • Dirk Schnabel
    • 7
  • Frank Rutsch
    • 8
    Email author
  1. 1.S.C. di Neonatologia e Terapia Intensiva NeonataleIstituto per l’Infanzia Burlo GarofoloTriesteItaly
  2. 2.Unità Operativa di Malattie MetabolicheIstituto per l’Infanzia Burlo GarofoloTriesteItaly
  3. 3.Servizio di CardiologiaIstituto per l’Infanzia Burlo GarofoloTriesteItaly
  4. 4.Clinica OstetricaIstituto per l’Infanzia Burlo GarofoloTriesteItaly
  5. 5.Servizio di RadiologiaIstituto per l’Infanzia Burlo GarofoloTriesteItaly
  6. 6.Max-Delbrück-Center for Molecular MedicineBerlin-BuchGermany
  7. 7.Department of Pediatric EndocrinologyUniversity Children’s Hospital CharitéBerlinGermany
  8. 8.Department of General PediatricsUniversity Children’s Hospital MünsterMünsterGermany

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