Prospective Phenotyping of Long-Term Survivors of Generalized Arterial Calcification of Infancy (GACI) [PDF]
Genetics in Medicine, 2021 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.
William A Gahl +2 more
exaly +5 more sources
Effects of etidronate on the Enpp1⁻/⁻ mouse model of generalized arterial calcification of infancy. [PDF]
Int J Mol Med, 2015 Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder of spontaneous infantile arterial and periarticular calcification which is attributed to mutations in the ectonucleotide pyrophosphatase/phosphodiesterase 1 (Enpp1 ...
Huesa C +3 more
europepmc +7 more sources
Future treatments for the arteriopathy of ectopic calcification disorders [PDF]
Frontiers in Drug Discovery, 2023 Ectopic calcification disorders, including Generalized Arterial Calcification of Infancy (GACI) and Pseudoxanthoma Elasticum are rare but impactful on individuals, healthcare and society, with significant associated morbidity, mortality and healthcare ...
Benjamin M. Davies +6 more
doaj +2 more sources
Treatment of Hypophosphatemic Rickets in Generalized Arterial Calcification of Infancy (GACI) Without Worsening of Vascular Calcification [PDF]
American Journal of Medical Genetics, Part A, 2016 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.
William A Gahl +2 more
exaly +5 more sources
Dual Effects of Bisphosphonates on Ectopic Skin and Vascular Soft Tissue Mineralization Versus Bone Microarchitecture in a Mouse Model of Generalized Arterial Calcification of Infancy [PDF]
Journal of Investigative Dermatology, 2016 Generalized arterial calcification of infancy is an intractable ectopic mineralization disorder caused by mutations in the ENPP1 gene, resulting in reduced plasma inorganic pyrophosphate (PPi) levels. We previously characterized the Enpp1asj mutant mouse
Michael E. Levine +2 more
exaly +3 more sources
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy [PDF]
Circulation: Cardiovascular Genetics, 2008 Background: generalized arterial calcification of infancy has been reported to be frequently lethal, and the efficiency of any therapy, including bisphosphonates, is unknown. A phosphate-poor diet markedly increases survival of NPP1 null mice, a model of
Gregory, J.W. +53 more
core +6 more sources
Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant — Case report and literature review [PDF]
Frontiers in Cardiovascular Medicine, 2022 IntroductionGeneralized arterial calcification of infancy (GACI) is a rare cause of infantile heart failure and systemic hypertension with a poor prognosis, characterized by extensive calcification and proliferation of the intimal layer of large and ...
Amalia Fãgãrãşan +10 more
doaj +2 more sources
Generalized arterial calcification of infancy: treatment with bisphosphonates.
Nature Reviews Endocrinology, 2009 Contains fulltext : 80612.pdf (Publisher’s version ) (Closed access)BACKGROUND: A baby girl developed respiratory distress immediately after birth and required supplemental oxygen. She was born at term via lower-segment cesarean section.
David Sillence +9 more
core +5 more sources
Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management. [PDF]
Curr Osteoporos Rep, 2020 PURPOSE OF REVIEW: This review summarizes current understanding of General Arterial Calcification of Infancy (GACI), emphasizing pathophysiology, clinical presentation, and approaches and controversies in management.
Boyce AM, Gafni RI, Ferreira CR.
europepmc +4 more sources
Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet [PDF]
Frontiers in Cardiovascular Medicine, 2019 The physicochemical deposition of calcium-phosphate in the arterial wall is prevented by calcification inhibitors. Studies in cohorts of patients with rare genetic diseases have shed light on the consequences of loss-of-function mutations for different ...
Magnus Bäck +18 more
doaj +3 more sources