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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Aorta, Abdominal
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Aortic Diseases / diagnosis
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Aortic Diseases / genetics*
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Arterial Occlusive Diseases / diagnosis
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Arterial Occlusive Diseases / genetics*
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Calcinosis / diagnosis
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Calcinosis / genetics*
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Cardiomyopathies / diagnosis
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Cardiomyopathies / genetics
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Child
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Child, Preschool
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Chromosome Aberrations*
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Echocardiography
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Female
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Follow-Up Studies
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Genes, Recessive*
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Heart Failure / diagnosis
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Heart Failure / genetics*
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Humans
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Hypophosphatemia, Familial / diagnosis
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Hypophosphatemia, Familial / genetics
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Infant, Newborn
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Mutation, Missense
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Phosphoric Diester Hydrolases / genetics*
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Pregnancy
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Prenatal Diagnosis
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Pyrophosphatases / genetics*
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Remission, Spontaneous
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Sequence Analysis, DNA
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Survivors*
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Ultrasonography, Doppler
Substances
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Phosphoric Diester Hydrolases
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ectonucleotide pyrophosphatase phosphodiesterase 1
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Pyrophosphatases