Generalized arterial calcification of infancy: two siblings with prolonged survival.
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.
Ciana
Giovanni
G
S.C. di Neonatologia e Terapia Intensiva Neonatale, Istituto per l'Infanzia Burlo Garofolo, Via dell'Istria 65/1-34100, Trieste, Italy.
Trappan
Antonella
A
Bembi
Bruno
B
Benettoni
Alessandra
A
Maso
Giampaolo
G
Zennaro
Floriana
F
Ruf
Nico
N
Schnabel
Dirk
D
Rutsch
Frank
F
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
D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases