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Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.
Am J Med Genet A. 2016 May; 170A(5):1308-11.AJ

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.

Authors+Show Affiliations

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland. Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.Pediatric Specialists, Avera Medical Group, Sioux Falls, South Dakota.National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Pub Type(s)

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

Language

eng

PubMed ID

26857895

Citation

Ferreira, Carlos R., et al. "Treatment of Hypophosphatemic Rickets in Generalized Arterial Calcification of Infancy (GACI) Without Worsening of Vascular Calcification." American Journal of Medical Genetics. Part A, vol. 170A, no. 5, 2016, pp. 1308-11.
Ferreira CR, Ziegler SG, Gupta A, et al. Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. Am J Med Genet A. 2016;170A(5):1308-11.
Ferreira, C. R., Ziegler, S. G., Gupta, A., Groden, C., Hsu, K. S., & Gahl, W. A. (2016). Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. American Journal of Medical Genetics. Part A, 170A(5), 1308-11. https://doi.org/10.1002/ajmg.a.37574
Ferreira CR, et al. Treatment of Hypophosphatemic Rickets in Generalized Arterial Calcification of Infancy (GACI) Without Worsening of Vascular Calcification. Am J Med Genet A. 2016;170A(5):1308-11. PubMed PMID: 26857895.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. AU - Ferreira,Carlos R, AU - Ziegler,Shira G, AU - Gupta,Ashutosh, AU - Groden,Catherine, AU - Hsu,Kevin S, AU - Gahl,William A, Y1 - 2016/02/09/ PY - 2015/08/31/received PY - 2016/01/16/accepted PY - 2016/2/10/entrez PY - 2016/2/10/pubmed PY - 2017/1/5/medline KW - ENPP1 KW - generalized arterial calcification of infancy KW - hyperphosphaturia KW - hypophosphatemia KW - hypophosphatemic rickets SP - 1308 EP - 11 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 170A IS - 5 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/26857895/Treatment_of_hypophosphatemic_rickets_in_generalized_arterial_calcification_of_infancy__GACI__without_worsening_of_vascular_calcification_ L2 - https://doi.org/10.1002/ajmg.a.37574 DB - PRIME DP - Unbound Medicine ER -