title: Arterial calcification due to CD73 deficiency (ACDC): imaging manifestations of ectopic mineralization.
abstract: Arterial calcification due to CD73 deficiency (ACDC) is a recently identified rare and debilitating adult-onset disorder caused by autosomal recessive NT5E gene mutations. ACDC is characterized by progressive and painful arterial calcifications primarily affecting the lower extremities, as well as calcifications affecting small joint capsules of the hands and feet. In this case report, the authors provide clinical follow-up for one of the first individuals identified by the National Institutes of Health (NIH) as having ACDC, focusing mainly on the imaging manifestations of periarticular joint mineralization, which are bilateral but slightly asymmetric, bulky up to the levels of the metacarpophalangeal and metatarsophalangeal joints, but smaller and more capsular in distribution at the proximal and distal interphalangeal joints, without erosive change or intra-articular mineralization. Differential considerations for similar appearing joint mineralization are provided.
authors: Department of Radiology and Biomedical Imaging, University of California, San Francisco, 505 Parnassus Ave., Room M391, Box 0628, San Francisco, CA, 94143, USA. luis.gutierrez@ucsf.edu.
authors: Luis Balmore
authors: LB
authors: Gutierrez
authors: Department of Radiology and Biomedical Imaging, University of California, San Francisco, 505 Parnassus Ave., Room M391, Box 0628, San Francisco, CA, 94143, USA.
authors: Thomas
authors: T
authors: Link
authors: Division of Rheumatology, University of California, San Francisco, 505 Parnassus Ave., Room M391, Box 0628, San Francisco, CA, 94143, USA.
authors: Krishna
authors: K
authors: Chaganti
authors: Department of Radiology and Biomedical Imaging, University of California, San Francisco, 505 Parnassus Ave., Room M391, Box 0628, San Francisco, CA, 94143, USA.
authors: Daria
authors: D
authors: Motamedi
mesh_terms: D015720:5'-Nucleotidase / Q000172:deficiency*; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D058851:GPI-Linked Proteins / Q000172:deficiency; D006801:Humans; D009999:Ossification, Heterotopic / Q000000981:diagnostic imaging* / Q000378:metabolism*; D061205:Vascular Calcification / Q000000981:diagnostic imaging* / Q000378:metabolism*
chemical_list: D058851:GPI-Linked Proteins; D015720:5'-Nucleotidase; C548241:NT5E protein, human
keywords: ACDC; Arterial calcification due to CD73 deficiency; CD73; Calcification; Ectopic; Joint; Mineralization; NT5E; Periarticular