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Generalized arterial calcification of infancy: two siblings with prolonged survival

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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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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

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Acknowledgement

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

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Authors and Affiliations

  1. S.C. di Neonatologia e Terapia Intensiva Neonatale, Istituto per l’Infanzia Burlo Garofolo, Via dell’Istria 65/1-34100, Trieste, Italy

    Giovanni Ciana & Antonella Trappan

  2. Unità Operativa di Malattie Metaboliche, Istituto per l’Infanzia Burlo Garofolo, Via dell’Istria 65/1-34100, Trieste, Italy

    Bruno Bembi

  3. Servizio di Cardiologia, Istituto per l’Infanzia Burlo Garofolo, Via dell’Istria 65/1-34100, Trieste, Italy

    Alessandra Benettoni

  4. Clinica Ostetrica, Istituto per l’Infanzia Burlo Garofolo, Via dell’Istria 65/1-34100, Trieste, Italy

    Giampaolo Maso

  5. Servizio di Radiologia, Istituto per l’Infanzia Burlo Garofolo, Via dell’Istria 65/1-34100, Trieste, Italy

    Floriana Zennaro

  6. Max-Delbrück-Center for Molecular Medicine, Berlin-Buch, Germany

    Nico Ruf

  7. Department of Pediatric Endocrinology, University Children’s Hospital Charité, Berlin, Germany

    Dirk Schnabel

  8. Department of General Pediatrics, University Children’s Hospital Münster, Münster, Germany

    Frank Rutsch

Authors
  1. Giovanni Ciana
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  2. Antonella Trappan
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  3. Bruno Bembi
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  4. Alessandra Benettoni
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  5. Giampaolo Maso
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  6. Floriana Zennaro
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  7. Nico Ruf
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  8. Dirk Schnabel
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  9. Frank Rutsch
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Corresponding author

Correspondence to Frank Rutsch.

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Ciana, G., Trappan, A., Bembi, B. et al. Generalized arterial calcification of infancy: two siblings with prolonged survival. Eur J Pediatr 165, 258–263 (2006). https://doi.org/10.1007/s00431-005-0035-6

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  • DOI: https://doi.org/10.1007/s00431-005-0035-6

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