ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.
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Who cites it
68 citing papers in PubMed, 84 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
- Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.Journal of endocrinological investigation · 2026Review
- Retinal Features and Preserved Vision in ENPP1 Deficiency: Long-Term Insights from Multimodal Imaging and Electrophysiology.International journal of molecular sciences · 2026Article
- Echogenicities in the Fetal Heart: Echocardiographic Evaluation, Differential Diagnosis and Clinical Outcomes.Pediatric cardiology · 2026Review
- Perinatal Diagnosis of Generalized Arterial Calcification of Infancy: First Genetically Confirmed ENPP1 Case in an Egyptian Fetus.Journal, genetic engineering & biotechnology · 2026Article
- Rotator cuff calcifications in pseudoxanthoma elasticum: a comparative analysis of prevalence and anatomical distribution.Skeletal radiology · 2026Article
- When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia.Current osteoporosis reports · 2026Review
- Long-term survival and phenotypic expansion in siblings with generalized arterial calcification of infancy.JCEM case reports · 2026Article
- The prevalence of ENPP1 deficiency in humans with Ossification of the Posterior Longitudinal Ligament and the preclinical efficacy of ENPP1 enzyme therapy in murine Ossification of the Posterior Longitudinal Ligament.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a NovelJournal of clinical research in pediatric endocrinology · 2026Article
- Generalized Arterial Calcification of Infancy (GACI): State of the Art and Clinical Perspectives.Journal of cardiovascular development and disease · 2026Review
- Genetic background of infantile hypophosphatemia: a narrative review.Translational pediatrics · 2026Review
- Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.International journal of molecular sciences · 2026Article
- Case Report: Delivery or not, generalized arterial calcification of infancy in China.Frontiers in medicine · 2026Article
- Six cases ofJBMR plus · 2025Article
- Article
- Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.Orphanet journal of rare diseases · 2025Review
- A Fragile Phosphate/Pyrophosphate Balance: From Essential Mineralization to Rare Calcifying Diseases.Current osteoporosis reports · 2025Review
- Soft tissue calcifications in chronic kidney disease-beyond the vasculature.Pflugers Archiv : European journal of physiology · 2025Review
- Article
8 more citing papers are in PubMed but not listed here.
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23 authors at 7 institutions in 3 countries.
Funding
Abstract
purposeGeneralized arterial calcification of infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1. A small fraction of GACI cases result from deficiency of ABCC6, a membrane transporter. The natural history of GACI survivors has not been established in a prospective fashion.
methodsWe performed deep phenotyping of 20 GACI survivors.
resultsSixteen of 20 subjects presented with arterial calcifications, but only 5 had residual involvement at the time of evaluation. Individuals with ENPP1 deficiency either had hypophosphatemic rickets or were predicted to develop it by 14 years of age; 14/16 had elevated intact FGF23 levels (iFGF23). Blood phosphate levels correlated inversely with iFGF23. For ENPP1-deficient individuals, the lifetime risk of cervical spine fusion was 25%, that of hearing loss was 75%, and the main morbidity in adults was related to enthesis calcification. Four ENPP1-deficient individuals manifested classic skin or retinal findings of PXE. We estimated the minimal incidence of ENPP1 deficiency at ~1 in 200,000 pregnancies.
conclusionGACI appears to be more common than previously thought, with an expanding spectrum of overlapping phenotypes. The relationships among decreased ENPP1, increased iFGF23, and rickets could inform future therapies.
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