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

American Journal of Medical Genetics, Part A - Tập 170 Số 5 - Trang 1308-1311 - 2016
Carlos R. Ferreira1,2, Shira G. Ziegler3, Ashutosh Gupta4, Catherine Groden2, Kevin Hsu2, William A. Gahl2
1Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia
2National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland;
3McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland
4Pediatric Specialists, Avera Medical Group, Sioux Falls, South Dakota

Tóm tắt

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. © 2016 Wiley Periodicals, Inc.

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