Primary hyperparathyroidism in children and adolescents.

[familial hypocalciuric hypercalcemia]

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 .

Diseases
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Diseases presenting "a life-threatening condition that presents within days of life with marked hypercalcemia" symptom

familial hypocalciuric hypercalcemia

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