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
Validation

Diseases presenting "failure to thrive" symptom

22q11.2 deletion syndrome

alexander disease

child syndrome

congenital diaphragmatic hernia

cystinuria

familial hypocalciuric hypercalcemia

hirschsprung disease

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

krabbe disease

neonatal adrenoleukodystrophy

omenn syndrome

papillon-lefèvre syndrome

pyruvate dehydrogenase deficiency

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated