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      Primary hyperparathyroidism in children and adolescents.

      1 ,
      Journal of the Chinese Medical Association : JCMA
      Elsevier BV

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          Abstract

          Primary hyperparathyroidism (PHPT) is a common endocrine disorder in adults in whom the typical presentation is incidentally discovered as asymptomatic hypercalcemia. PHPT is much less common in children and adolescents, but has greater morbidity in this age group, as most young patients with PHPT will have symptomatic hypercalcemia or complications such as kidney stones, abdominal pain, and skeletal fragility. An important feature of PHPT in younger patients is the relatively high prevalence of germline inactivating mutations of the CASR gene, which encodes the calcium-sensing receptor. Biallelic CASR mutations cause neonatal severe hyperparathyroidism, a life-threatening condition that presents within days of life with marked hypercalcemia, respiratory distress, failure to thrive, and skeletal demineralization. By contrast, more common heterozygous CASR mutations are generally associated with a benign variant of PHPT termed familial hypocalciuric hypercalcemia. Appropriate management of PHPT in children and adolescents requires distinction between familial hypocalciuric hypercalcemia, which generally requires no specific treatment, and other forms of PHPT that are best treated by parathyroidectomy.

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          Author and article information

          Journal
          J Chin Med Assoc
          Journal of the Chinese Medical Association : JCMA
          Elsevier BV
          1728-7731
          1726-4901
          Sep 2012
          : 75
          : 9
          Affiliations
          [1 ] Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
          Article
          S1726-4901(12)00148-7 NIHMS478834
          10.1016/j.jcma.2012.06.012
          3710287
          22989537
          735dd05d-0452-4dbb-b8ba-4bc733355539
          2012 Published by Elsevier B.V
          History

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