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Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
Mutations in the SLC20A2 gene are associated with idiopathic basal ganglia calcification (Fahr's syndrome).This association suggests that familial idiopathic basal ganglia calcification is caused by changes in phosphate homeostasis, since this gene encodes for PIT-2, an inorganic phosphate transporter.
Familial hypocalciuric hypercalcemia (FHH) is an inherited condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL; although uncommon. [1] It is also known as familial benign hypocalciuric hypercalcemia (FBHH) where there is usually a family history of hypercalcemia which is mild, a urine calcium to creatinine ratio <0.01, and urine calcium <200 mg/day ...
It is less common in cats, and many feline cases are idiopathic. [29] In dogs, lymphosarcoma , Addison's disease , primary hyperparathyroidism , and chronic kidney failure are the main causes of hypercalcemia, but there are also environmental causes usually unique to indoor pets. [ 29 ]
Hand radiograph showing tumoral calcinosis, PA radiograph of the right hand showing tumoral calcinosis-like metastatic calcification in a patient on dialysis. Dialysis alters calcium phosphate product (>70). Idiopathic tumoral calcinosis is autosomal dominant and is not associated with dialysis. Note the premature arterial calcification which ...
Dystrophic calcinosis cutis is the most prevalent kind of calcification on the skin. [2] The ectopic calcified mass usually consists of amorphous calcium phosphate and hydroxyapatite. [6] Dystrophic calcification is linked to a number of illnesses, such as infections, hereditary diseases, cutaneous neoplasms, and connective tissue diseases. [7]
Metastatic calcification involves a systemic calcium excess imbalance, which can be caused by hypercalcemia, kidney failure, milk-alkali syndrome, lack or excess of other minerals, or other causes. Tumoral calcinosis
Generalized arterial calcification of infancy (GACI) is an extremely rare [2] genetic disorder. It is caused by mutations in the ENPP1 gene in 75% of the subjects [ 3 ] or in mutations in the ABCC6 genes in 10% of patients. [ 4 ]