eTable 3. Occurrence of medial sclerosis in association with various diseases (examples) with references.
Disease | Key feature | Additional soft-tissue calcifications | References |
Diabetes mellitus | Carbohydrate metabolism disorders | No | (e7) |
Chronic kidney disease | Impaired excretory and metabolic renal function | No | (e11) |
Aging | Unknown; disorders of the extracellular matrix? Destruction of elastic fibers? |
No | (e22) |
Primary medial sclerosis | Unknown, hereditary genetic disorder? | No | (e23) |
Disorders of Vitamin K metabolism | Inhibition of anti-inflammatory factors, particularly mediated by the NF-kB pathway; inhibition of matrix Gla protein (MGP) carboxylation | No | (e24) |
Disorders of Vitamin D metabolism | Stimulation of calcium absorption, synergistic effect with parathyroid hormone on bone resorption? | No | (e25) |
Atherosclerosis | Intimal calcification | Yes | (e26) |
Pseudoxanthoma elasticum | Defect of the ABCC6 gene ATP Binding Cassette Subfamily C Member 6 | Yes | (e27) |
Rheumatoid arthritis? | Disorders of human leucocyte antigen (HLA), major histocompatibility complex (MHC), cytokine promotors, T-cell signaling pathway, and others | Yes | (e28) |
β-thalassemia | Mutation of the β-globulin gene, resulting in absent or low production of β-globulin | Yes | (e29) |
Calciphylaxis | Unknown | Yes | (e30) |
Kawasaki disease | Unknown; generalized inflammatory reaction secondary to infection in predisposed children? | Yes | (e31) |
Singleton-Merten syndrome and other forms of type I interferonopathies | Genetic mutation associated with activation of type I interferon activity | Yes | (e32) |
Parathyroid gland dysfunction | Disorders of parathyroid hormone metabolism | Yes | (e33) |
Generalized Arterial Calcification of Infancy (GACI) | Gene mutations affecting ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), which cleaves ATP to inorganic pyrophosphate (PPi) and adenosine monophosphate (AMP) (extracellular) | Yes | (e34) |
Arterial Calcification due to CD73 Deficiency (ACDC) | Ecto-5‘-nucleotidase (NT5E) gene mutation which codes CD73—with its mutation, the conversion of adenosine monophosphate (AMP) into adenosine is defective | Yes | (e35) |
Idiopathic Basal Ganglia Calcification (IBGC) | Impaired extracellular transport of inorganic phosphate by mutations of the SLC20A2, PDGFRB, PDGFB, XPR1, and MYORG genes. | Yes | (e36) |
Scleroderma | Autoimmune disease frequently associated with changes in the human leukocyte antigen (HLA) complex | Yes | (e37) |
Hutchinson-Gilford progeria syndrome | Single nucleotide substitution in the LMNA gene | Yes | (e38) |