P031 Use of disodium etidronate and sodium thiosulfate in a premature neonate with generalised arterial calcification of infancy

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Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy

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Effects of etidronate on the Enpp1−/− mouse model of generalized arterial calcification of infancy

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) gene. Whilst the bisphosphonate, etidronate, is currently used off-label for the treatment for GACI, recent studies have highlighted its detrime...

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Idiopathic Arterial Calcification in Infancy.

Arterial calcification has been known to occur in infancy since the early reports of Durante (1899) and Bryant and White (1901). In many instances arterial lesions have been associated with renal disease, hypervitaminosis-D or congenital anomalies of the heart and great vessels, but more rarely there has been no demonstrable primary disease. About 50 cases of this idiopathic type of arterial ca...

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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 2019

ISSN: 0003-9888,1468-2044

DOI: 10.1136/archdischild-2019-nppc.41