Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

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...

Molecular diagnosis of generalized arterial calcification of infancy (GACI)

Generalized arterial calcification of infancy (GACI) is a life-threatening disorder in young infants. Cardiovascular symptoms are usually apparent within the first month of life. The symptoms are caused by calcification of large and medium-sized arteries, including the aorta, coronary arteries, and renal arteries. Most of the patients die by 6 months of age because of heart failure. Recently, h...

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

Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was originally reported as a responsible gene for generalized arterial calcification in infancy (GACI). Though the prognosis of GACI patients is poor because of myocardial infarction and heart failure in relation to medial calcification of the coronary arteries, some patients rescued by bisphosphonate treatment have been reported. Recen...

Idiopathic arterial calcification in infancy.

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...