SCIENTIFIC BACKGROUND

CASR

Category:

Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by undermineralization of bones, leading to increased fragility, and respiratory failure due to underdevelopment of the thorax. Symptoms usually manifest within the first few weeks after birth and can become life-threatening if left untreated. Affected individuals have severe hypercalcemia and extremely high serum parathyroid hormone (PTH) levels with usually decreased urinary calcium excretion. The prevalence is unknown.

 

The severe disruption of calcium phosphate metabolism is caused by a complete loss of function of the calcium-sensitive receptor (CaSR), which monitors Ca2+ levels in the serum and accordingly regulates the secretion of PTH and urinary calcium excretion. Inactivation of CaSR results from homozygous or combined heterozygous alterations in the CASR gene and is inherited in an autosomal recessive manner. Heterozygous variants in the CASR gene cause familial hypocalciuric hypercalcemia (FHH1), a condition that is much milder and often asymptomatic. However, NSHPT can also occur sporadically, caused by de novo heterozygous changes in CASR. If therapy with bisphosphonates and dialysis proves unsuccessful, complete parathyroidectomy followed by treatment with 1-alpha-hydroxylated vitamin D may be indicated.

 

References

Marx & Sinaii 2020, J Clin Endocrinol Metab 105:1061 / Vannucci & Brandi 2019, Front Horm Res 51:52 / Murphy et al. 2016, Eur J Med Genet 59:227

GENES

CASR

ASSOCIATED TESTS

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