title: Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.
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: 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.
authors: Carlos R
authors: CR
authors: Ferreira
authors: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors: Shira G
authors: SG
authors: Ziegler
authors: Pediatric Specialists, Avera Medical Group, Sioux Falls, South Dakota.
authors: Ashutosh
authors: A
authors: Gupta
authors: National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors: Catherine
authors: C
authors: Groden
authors: National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors: Kevin S
authors: KS
authors: Hsu
authors: National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors: William A
authors: WA
authors: Gahl
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009154:Mutation; D010710:Phosphates / Q000008:administration & dosage; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D011755:Pyrophosphatases / Q000235:genetics*; D063730:Rickets, Hypophosphatemic / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D061205:Vascular Calcification / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology
chemical_list: D010710:Phosphates; D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases
keywords: ENPP1; generalized arterial calcification of infancy; hyperphosphaturia; hypophosphatemia; hypophosphatemic rickets