Hypocalcemia, autosomal dominant

Common Name(s)

Hypocalcemia, autosomal dominant

{13:Garfield and Karaplis (2001)} reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH; {168450}) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels. Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, {188400}) is usually a sporadic condition ({26:Taitz et al., 1966}).
 

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Severe Primary Hypoparathyroidism
 

Status: Recruiting

Condition Summary: Autosomal Dominant Hypocalcemia or OR Primary Hypoparathyroidism Related to Other Cause But Complicated by Hypercalciuria Under Treatment

 

Last Updated: 19 Jun 2017

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