Generalized arterial calcification of infancy (GACI) is a very rare ectopic mineralization disorder characterized by very early onset of severe and widespread calcification and/or narrowing of medium- and large-sized vessels. The first case was likely reported in 1901 (Bryant and White 1901). Since then, approximately 200 cases have been reported (Chong and Hutchins 2008). While disease prevalence has not been formally evaluated, carrier and disease frequency are estimated to be 1:376 and 1:556,000, respectively, for type 1 GACI (Rutsch et al. 2008). No gender predilection has been reported. Age of onset can be variable, distinguishing between early onset (in utero or first week of life; 48% of cases) and late-onset (median age 3 months; 52% of cases) GACI (Chong and Hutchins 2008).

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Generalized Arterial Calcification of Infancy (GACI): Types 1 and 2 (OMIM #208000 and #614473)

  • Olivier M. Vanakker

摘要

Generalized arterial calcification of infancy (GACI) is a very rare ectopic mineralization disorder characterized by very early onset of severe and widespread calcification and/or narrowing of medium- and large-sized vessels. The first case was likely reported in 1901 (Bryant and White 1901). Since then, approximately 200 cases have been reported (Chong and Hutchins 2008). While disease prevalence has not been formally evaluated, carrier and disease frequency are estimated to be 1:376 and 1:556,000, respectively, for type 1 GACI (Rutsch et al. 2008). No gender predilection has been reported. Age of onset can be variable, distinguishing between early onset (in utero or first week of life; 48% of cases) and late-onset (median age 3 months; 52% of cases) GACI (Chong and Hutchins 2008).