Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification

Carlos R. Ferreira, Shira G. Ziegler, Ashutosh Gupta, Catherine Groden, Kevin S. Hsu, William A. Gahl

Research output: Contribution to journalArticlepeer-review

Abstract

Patients with generalized arterial calcification of infancy (GACI) develop vascular calcifications early in life. About half of them die within the first 6 months despite optimal medical care. A subset of those who survive eventually develop hypophosphatemic rickets. Since hypophosphatemia and hyperphosphaturia have been previously associated with increased survival in GACI patients, physicians often avoid phosphate repletion as treatment for rickets. As a consequence, GACI patients develop severe rachitic complications such as short stature and skeletal deformities. It appears that the recognition of hypophosphatemia later in life in some GACI patients is a consequence of having survived the first few months of life, and not the cause of their survival per se. Here, we report the long-term follow-up of a GACI patient who was phosphate-repleted for his rickets for more than 7 years without worsening of vascular calcification.

Original languageEnglish (US)
Pages (from-to)1308-1311
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number5
DOIs
StatePublished - May 1 2016

Keywords

  • ENPP1
  • Generalized arterial calcification of infancy
  • Hyperphosphaturia
  • Hypophosphatemia
  • Hypophosphatemic rickets

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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