Generalized arterial calcification of infancy: two siblings with prolonged survival
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In generalized arterial calcification of infancy (OMIM no. 208000), calcification of the media and proliferation of the intima lead to arterial stenoses. Most affected patients present with untreatable arterial hypertension and die within the first months of life. The disease has recently been linked to mutations in ENPP1. We report two siblings with prolonged survival, both of whom carry the compound heterozygous ENPP1 mutations c.913C>A and c.1164+2T>A. In both siblings, spontaneous regression of arterial calcifications occurred, and antihypertensive treatment could be tapered off gradually. In some patients, the natural course of GACI may be more favourable than previously assumed.
KeywordsGeneralized arterial calcification of infancy GACI ENPP1 Hypophosphatemia
Generalized arterial calcification of infancy
Ecto-Nucleotide Pyrophosphatase/phosphodiesterase 1
Maximal tubular phosphate reabsorption per glomerular filtration rate
F.R. is supported by a grant from the Deutsche Forschungsgemeinschaft.
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