Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Massive tumoral calcinosis developed in a 29-year-old woman with type 1 diabetes and failed pancreas and kidney transplant on peritoneal dialysis. The patient had a symptomatic calcified, fluid-filled posterior thigh mass. After percutaneous drainage of 260 mL of milky fluid, she had rapid recurrence of the collection. She underwent catheter-based sclerotherapy first with 110 mL of povidone-iodine followed 2 days later by 40 mL of 3% sodium tetradecyl sulfate foam. At 5.5 months after the procedure, the patient remained asymptomatic, and computed tomography imaging showed complete resolution of the collection.
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PMID:Percutaneous sclerotherapy for treatment of tumoral calcinosis. 2474 3

Hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is an autosomal recessive disorder of ectopic calcification due to deficiency of or resistance to intact fibroblast growth factor 23 (iFGF23). Inactivating mutations in FGF23, N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO (KL) have been reported as causing HFTC/HHS. We present what we believe is the first identified case of autoimmune hyperphosphatemic tumoral calcinosis in an 8-year-old boy. In addition to the classical clinical and biochemical features of hyperphosphatemic tumoral calcinosis, the patient exhibited markedly elevated intact and C-terminal FGF23 levels, suggestive of FGF23 resistance. However, no mutations in FGF23, KL, or FGF receptor 1 (FGFR1) were identified. He subsequently developed type 1 diabetes mellitus, which raised the possibility of an autoimmune cause for hyperphosphatemic tumoral calcinosis. Luciferase immunoprecipitation systems revealed markedly elevated FGF23 autoantibodies without detectable FGFR1 or Klotho autoantibodies. Using an in vitro FGF23 functional assay, we found that the FGF23 autoantibodies in the patient's plasma blocked downstream signaling via the MAPK/ERK signaling pathway in a dose-dependent manner. Thus, this report describes the first case, to our knowledge, of autoimmune hyperphosphatemic tumoral calcinosis with pathogenic autoantibodies targeting FGF23. Identification of this pathophysiology extends the etiologic spectrum of hyperphosphatemic tumoral calcinosis and suggests that immunomodulatory therapy may be an effective treatment.
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PMID:Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies. 3022 30