ArticleAmerican journal of medical genetics. Part A2016
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.
Article in American journal of medical genetics. Part A, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 32 citations in OpenAlex.
- Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC).Vascular medicine (London, England) · 2024Trial
- When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia.Current osteoporosis reports · 2026Review
- Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a NovelJournal of clinical research in pediatric endocrinology · 2026Article
- NovelNeurosciences (Riyadh, Saudi Arabia) · 2026Article
- Six cases ofJBMR plus · 2025Article
- ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.Annual review of pathology · 2024Review
- Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology.Frontiers in endocrinology · 2024Review
- Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study.Frontiers in cardiovascular medicine · 2023Article
- Musculoskeletal Comorbidities and Quality of Life in ENPP1-Deficient Adults and the Response of Enthesopathy to Enzyme Replacement Therapy in Murine Models.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Congenital anomalies of the tubular gastrointestinal tract.Pathologica · 2022Review
- Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective.PloS one · 2022Article
- Correspondence on "Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)" by Ferreira et al.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Article
- Case Report: A Novel Genetic Mutation Causes Idiopathic Infantile Arterial Calcification in Preterm Infants.Frontiers in genetics · 2021Article
- Congenital Conditions of Hypophosphatemia in Children.Calcified tissue international · 2021Review
- Insights into dental mineralization from three heritable mineralization disorders.Journal of structural biology · 2020Review
- Article
- Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.Current osteoporosis reports · 2020Review
- [Persistent hypertension for two months in a preterm infant].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- PiT-2, a type III sodium-dependent phosphate transporter, protects against vascular calcification in mice with chronic kidney disease fed a high-phosphate diet.Kidney international · 2018Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.