Idiopathic infantile arterial calcification pathophysiology
|
Idiopathic infantile arterial calcification Microchapters |
|
Differentiating Idiopathic infantile arterial calcification from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Idiopathic infantile arterial calcification pathophysiology On the Web |
|
American Roentgen Ray Society Images of Idiopathic infantile arterial calcification pathophysiology |
|
FDA on Idiopathic infantile arterial calcification pathophysiology |
|
on Idiopathic infantile arterial calcification pathophysiology |
|
Idiopathic infantile arterial calcification pathophysiology in the news |
|
Blogs on Idiopathic infantile arterial calcification pathophysiology |
|
Directions to Hospitals Treating Idiopathic infantile arterial calcification |
|
Risk calculators and risk factors for Idiopathic infantile arterial calcification pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S
Overview
Pathophysiology
The disease results from an inactivating mutation in the ecto-nucleotide pyrophosphatase/phosphodiesterase-1 ENPP1 gene, leading to decreased inorganic pyrophosphate (PPi), a potent inhibitor of calcium deposition in the vessel wall. This mutation allows for unregulated calcium deposition within muscular arteries. The symptoms are caused by calcification of large and medium-sized arteries, including the aorta, coronary arteries, and renal arteries. Most of the patients die by 6 months of age because of heart failure. Recently,homozygous or compound heterozygous mutations for ENPP1 gene were reported as causative for the disorder. ENPP1 regulates extracellular inorganic pyrophosphate (PPi), a major inhibiter of extracellular matrix calcification.[1]
References
- ↑ Rutsch, Frank; Vaingankar, Sucheta; Johnson, Kristen; Goldfine, Ira; Maddux, Betty; Schauerte, Petra; Kalhoff, Hermann; Sano, Kimihiko; Boisvert, William A. (2001). "PC-1 Nucleoside Triphosphate Pyrophosphohydrolase Deficiency in Idiopathic Infantile Arterial Calcification". The American Journal of Pathology. 158 (2): 543–54. doi:10.1016/S0002-9440(10)63996-X. PMC 1850320. PMID 11159191.