Generalized arterial calcification of infancy

Generalized arterial calcification of infancy
Other namesIdiopathic infantile arterial calcification (IIAC), arterial calcification of infancy, idiopathic arterial calcification of infancy (IACI), occlusive infantile arterial calcification, occlusive infantile arteriopathy[1]
SpecialtyMedical genetics

Generalized arterial calcification of infancy (GACI) is an extremely rare[2] genetic disorder. It is caused by mutations in the ENPP1 gene in 75% of the subjects[3] or in mutations in the ABCC6 genes in 10% of patients.[4] However, sometimes individuals affected with GACI do not have mutations in the ENPP1 or ABCC6 gene and in those cases the cause of the disorder is unknown.[4]

The condition usually affects infants during the first 6 months of life. This condition is inherited as an autosomal recessive pattern. It is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.[5] Unfortunately, many infants die of vaso-occlusive disease, especially of the coronary arteries.[6]

  1. ^ Witzleben, C.L (1970). "Idiopathic infantile arterial calcification—A misnomer?". The American Journal of Cardiology. 26 (3): 305–9. doi:10.1016/0002-9149(70)90798-8. PMID 4196111.
  2. ^ Chong, Curtis R.; Hutchins, Grover M. (2008). "Idiopathic Infantile Arterial Calcification: The Spectrum of Clinical Presentations". Pediatric and Developmental Pathology. 11 (5): 405–15. doi:10.2350/07-06-0297.1. PMID 17990935. S2CID 9031166.
  3. ^ Rutsch, Frank; Ruf, Nico; Vaingankar, Sucheta; Toliat, Mohammad R.; Suk, Anita; Höhne, Wolfgang; Schauer, Galen; Lehmann, Mandy; et al. (2003). "Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification". Nature Genetics. 34 (4): 379–81. doi:10.1038/ng1221. PMID 12881724. S2CID 12784972.
  4. ^ a b "Generalized arterial calcification of infancy". Genetic Home Reference-US National Library of Medicine.
  5. ^ Greenberg, S. Bruce; Gibson, James (2005). "New Findings in Idiopathic Arterial Calcification of Infancy Detected by MDCT". American Journal of Roentgenology. 185 (2): 530–2. doi:10.2214/ajr.185.2.01850530. PMID 16037532.
  6. ^ Rutsch, Frank; Boyer, Petra; Nitschke, Yvonne; Ruf, Nico; Lorenz-Depierieux, Bettina; Wittkampf, Tanja; Weissen-Plenz, Gabriele; Fischer, Rudolf-Josef; et al. (2008). "Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated with Survival Beyond Infancy in Generalized Arterial Calcification of Infancy". Circulation: Cardiovascular Genetics. 1 (2): 133–40. doi:10.1161/CIRCGENETICS.108.797704. PMC 2794045. PMID 20016754. {{cite journal}}: |first17= has generic name (help)