Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)
Purpose Generalized 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 GA...
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| Published in | Genetics in medicine Vol. 23; no. 2; pp. 396 - 407 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Nature Publishing Group US
01.02.2021
Elsevier Limited |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1098-3600 1530-0366 1530-0366 |
| DOI | 10.1038/s41436-020-00983-0 |
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| Abstract | Purpose
Generalized 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.
Methods
We performed deep phenotyping of 20 GACI survivors.
Results
Sixteen 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.
Conclusion
GACI 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. |
|---|---|
| AbstractList | Generalized 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.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.We performed deep phenotyping of 20 GACI survivors.METHODSWe performed deep phenotyping of 20 GACI survivors.Sixteen 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.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.GACI 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.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. Purpose Generalized 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. Methods We performed deep phenotyping of 20 GACI survivors. Results Sixteen 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. Conclusion GACI 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. Generalized 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. We performed deep phenotyping of 20 GACI survivors. Sixteen 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. GACI 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. 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. |
| Author | Roberts, Mary S. Rosing, Douglas R. Rutsch, Frank Ziegler, Shira G. Müller, Kerstin Bryant, Joy C. Wang, Sisi Whelpley, Margaret S. Holm, Ingrid A. Levine, Michael A. Dikoglu, Esra Jacobsen, Christina M. Gahl, William A. Ferreira, Carlos R. Hartley, Iris R. Gafni, Rachel I. Chew, Emily Y. Macnamara, Ellen F. Hackbarth, Mary E. Corden, Timothy E. Mughal, M. Zulf Chen, Marcus Y. Pan, Kristen S. |
| AuthorAffiliation | 12 Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children’s Hospital, Boston, Massachusetts, USA 15 Cardiovascular CT Laboratory, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA 17 Division of Endocrinology and Diabetes, The Children’s Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA 6 Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA 4 Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA 11 Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA 1 Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA 10 Divisions |
| AuthorAffiliation_xml | – name: 5 Cardiovascular Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA – name: 15 Cardiovascular CT Laboratory, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA – name: 4 Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA – name: 14 Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA – name: 12 Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children’s Hospital, Boston, Massachusetts, USA – name: 13 Department of General Pediatrics, Muenster University Children’s Hospital, Muenster, Germany – name: 3 Departments of Pediatrics and Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA – name: 17 Division of Endocrinology and Diabetes, The Children’s Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA – name: 8 Division of Epidemiology and Clinical Applications, Clinical Trials Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA – name: 16 Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester University Hospital’s NHS Trust, Manchester, UK – name: 7 ICON plc, Vancouver, BC, Canada – name: 9 Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin – name: 6 Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA – name: 10 Divisions of Endocrinology and Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts – name: 11 Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA – name: 1 Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA – name: 2 Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA |
| Author_xml | – sequence: 1 givenname: Carlos R. orcidid: 0000-0002-2697-1046 surname: Ferreira fullname: Ferreira, Carlos R. email: ferreiracr@mail.nih.gov organization: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health – sequence: 2 givenname: Mary E. surname: Hackbarth fullname: Hackbarth, Mary E. organization: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health – sequence: 3 givenname: Shira G. surname: Ziegler fullname: Ziegler, Shira G. organization: Departments of Pediatrics and Genetic Medicine, Johns Hopkins University School of Medicine – sequence: 4 givenname: Kristen S. surname: Pan fullname: Pan, Kristen S. organization: Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health – sequence: 5 givenname: Mary S. surname: Roberts fullname: Roberts, Mary S. organization: Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health – sequence: 6 givenname: Douglas R. surname: Rosing fullname: Rosing, Douglas R. organization: Cardiovascular Branch, National Heart, Lung, and Blood Institute, National Institutes of Health – sequence: 7 givenname: Margaret S. surname: Whelpley fullname: Whelpley, Margaret S. organization: Cardiovascular Branch, National Heart, Lung, and Blood Institute, National Institutes of Health – sequence: 8 givenname: Joy C. surname: Bryant fullname: Bryant, Joy C. organization: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health – sequence: 9 givenname: Ellen F. surname: Macnamara fullname: Macnamara, Ellen F. organization: Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health – sequence: 10 givenname: Sisi surname: Wang fullname: Wang, Sisi organization: ICON plc – sequence: 11 givenname: Kerstin surname: Müller fullname: Müller, Kerstin organization: ICON plc – sequence: 12 givenname: Iris R. surname: Hartley fullname: Hartley, Iris R. organization: Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health – sequence: 13 givenname: Emily Y. surname: Chew fullname: Chew, Emily Y. organization: Division of Epidemiology and Clinical Applications, Clinical Trials Branch, National Eye Institute, National Institutes of Health – sequence: 14 givenname: Timothy E. surname: Corden fullname: Corden, Timothy E. organization: Department of Pediatrics, Medical College of Wisconsin – sequence: 15 givenname: Christina M. surname: Jacobsen fullname: Jacobsen, Christina M. organization: Divisions of Endocrinology and Genetics and Genomics, Boston Children’s Hospital, Department of Pediatrics, Harvard Medical School – sequence: 16 givenname: Ingrid A. surname: Holm fullname: Holm, Ingrid A. organization: Department of Pediatrics, Harvard Medical School, Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children’s Hospital – sequence: 17 givenname: Frank surname: Rutsch fullname: Rutsch, Frank organization: Department of General Pediatrics, Muenster University Children’s Hospital – sequence: 18 givenname: Esra surname: Dikoglu fullname: Dikoglu, Esra organization: Laboratory of Pathology, National Cancer Institute, National Institutes of Health – sequence: 19 givenname: Marcus Y. surname: Chen fullname: Chen, Marcus Y. organization: Cardiovascular CT Laboratory, National Heart, Lung, and Blood Institute, National Institutes of Health – sequence: 20 givenname: M. Zulf surname: Mughal fullname: Mughal, M. Zulf organization: Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester University Hospital’s NHS Trust – sequence: 21 givenname: Michael A. surname: Levine fullname: Levine, Michael A. organization: Division of Endocrinology and Diabetes, The Children’s Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine – sequence: 22 givenname: Rachel I. surname: Gafni fullname: Gafni, Rachel I. organization: Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health – sequence: 23 givenname: William A. surname: Gahl fullname: Gahl, William A. organization: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health |
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| Keywords | ENPP1 deficiency generalized arterial calcification of infancy ABCC6 deficiency pseudoxanthoma elasticum autosomal recessive hypophosphatemic rickets type 2 |
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Generalized arterial calcification of infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually... Generalized arterial calcification of infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually caused by... PurposeGeneralized arterial calcification of infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually... |
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| SubjectTerms | Adenosine Adolescent Adult Age Biomedical and Life Sciences Biomedicine Calcification Clinical trials Endocrinology Enzymes Female Fibroblast Growth Factor-23 Genetics Genomes Genomics Hearing loss Hospitals Human Genetics Humans Immunoassay Laboratories Laboratory Medicine Medicine Mutation Pediatrics Phosphoric Diester Hydrolases - genetics Pregnancy Prospective Studies Pyrophosphatases - genetics Research centers Rickets Survivors Vascular Calcification |
| Title | Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI) |
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