title: Generalized arterial calcification of infancy: two siblings with prolonged survival.
abstract: 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.
authors.affiliation: S.C. di Neonatologia e Terapia Intensiva Neonatale, Istituto per l'Infanzia Burlo Garofolo, Via dell'Istria 65/1-34100, Trieste, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Ciana
authors.forename: Antonella
authors.initials: A
authors.lastname: Trappan
authors.forename: Bruno
authors.initials: B
authors.lastname: Bembi
authors.forename: Alessandra
authors.initials: A
authors.lastname: Benettoni
authors.forename: Giampaolo
authors.initials: G
authors.lastname: Maso
authors.forename: Floriana
authors.initials: F
authors.lastname: Zennaro
authors.forename: Nico
authors.initials: N
authors.lastname: Ruf
authors.forename: Dirk
authors.initials: D
authors.lastname: Schnabel
authors.forename: Frank
authors.initials: F
authors.lastname: Rutsch
mesh_terms: D001012:Aorta, Abdominal; D001018:Aortic Diseases / Q000175:diagnosis / Q000235:genetics*; D001157:Arterial Occlusive Diseases / Q000175:diagnosis / Q000235:genetics*; D002114:Calcinosis / Q000175:diagnosis / Q000235:genetics*; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D004452:Echocardiography; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006333:Heart Failure / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000175:diagnosis / Q000235:genetics; D007231:Infant, Newborn; D020125:Mutation, Missense; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011755:Pyrophosphatases / Q000235:genetics*; D012075:Remission, Spontaneous; D017422:Sequence Analysis, DNA; D017741:Survivors; D018608:Ultrasonography, Doppler
chemical_list: D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases