PC-1 Nucleoside Triphosphate Pyrophosphohydrolase Deficiency in Idiopathic Infantile Arterial Calcification

American Journal of Pathology, Vol. 158, No. 2, February 2001 Copyright © American Society for Investigative Pathology

PC-1 Nucleoside Triphosphate Pyrophosphohydrolase Deficiency in Idiopathic Infantile Arterial Calcification

Frank Rutsch,* Sucheta Vaingankar,† Kristen Johnson,† Ira Goldfine,‡ Betty Maddux,‡ Petra Schauerte,* Hermann Kalhoff,* Kimihiko Sano,§ William A. Boisvert,¶ Andrea Superti-Furga,储 and Robert Terkeltaub† From the Department of Pediatrics,* Municipal Children’s Hospital, Dortmund, Germany; the Department of Medicine,† Veterans Affairs Medical Center, University of California at San Diego, La Jolla, California; the Department of Endocrinology,‡ Mount Zion Hospital, University of California at San Francisco, San Francisco, California; the Department of Pediatrics,§ Kobe University School of Medicine, Kobe, Japan; the Department of Immunology,¶ Scripps Research Institute, La Jolla, California; and the University Children’s Hospital,储 Zurich, Switzerland

Inogranic pyrophosphate (PPi) inhibits hydroxyapatite deposition, and mice deficient in the PPi-generating nucleoside triphosphate pyrophosphohydrolase (NTPPPH) Plasma cell membrane glycoprotein-1 (PC-1) develop peri-articular and arterial calcification in early life. In idiopathic infantile arterial calcification (IIAC), hydroxyapatite deposition and smooth muscle cell (SMC) proliferation occur, sometimes associated with peri-articular calcification. Thus, we assessed PC-1 expression and PPi metabolism in a 25-month-old boy with IIAC and peri-articular calcifications. Plasma PC-1 was