We use our own and third-party cookies to improve our services, customize our web site, enhance User browsing experience, measure and obtain usage statistics. By clicking on "Accept" you ACCEPT ITS USE. You can also CONFIGURE OR REFUSE the installation of cookies by clicking on "Settings" or "Reject". For more information, read our Cookies Policy.

Accept Refuse Configuration More info

Advanced cookie settings

Obligatories

We use mandatory cookies to perform essential functions of the website. For example, are used to log in, save your language preferences, offer a car experience purchase, improve performance, redirect traffic between web servers, detect the size of your screen, determine page load times, improve user experience and measure the audience. These cookies are necessary for the operation of our websites.

Analysis Cookies

They are those that well treated by us or by third parties, allow us to quantify the number of users and thus carry out the measurement and statistical analysis of the use made by users of the service offered. For this, your browsing on our website is analyzed in order to improve the offer of products or services that we offer you.

Cookies publicitaires

Third party cookies

We and other third parties use social media cookies to show you ads and content. based on your profiles on social networks and the activities you carry out on our websites. If the user decides to use the social registry, he authorizes the social network to store a persistent Cookie that remembers your identification in the service, so that user access to the digital editions on subsequent visits.

Reset all Save change
es en

Primary Neonatal Severe Hyperparathyroidism

Inicio Tubulopathies Primary Neonatal Severe Hyperparath ...

Features

Neonatal severe hyperparathyroidism (NSHPT) is a heritable disorder of mineral homeostasis transmitted as an autosomal recessive trait, caused by loss-of-function mutations in the CASR gene on chromosome 3q13.

Clinical Manifestations

Neonatal severe primary hyperparathyroidism usually manifests in the first 6 months of life with severe hypercalcemia, bone demineralization, and failure to thrive. Early diagnosis is critical because untreated NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. Some infants have milder hyperparathyroidism and a substantially milder clinical presentation and natural history.

Diagnosis

Severe hypercalcemia with low serum phosphate and elevated PTH plasma levels in infants support NSHPT diagnosis.

Genetics

Neonatal severe hyperparathyroidism can be caused by loss-of-function mutations in the CASR gene on chromosome 3q13. The mutations are most often homozygous or compound heterozygous, but de novo heterozygous mutations have been identified. Affected newborns cannot induce a hypercalciuric response to hypercalcemia due to a significant elevated PTH “set-point”, which is much higher than observed in familial hypocalciuric hipercalcemia. Severe neonatal hyperparathyroidism is an autosomal recessive disorder. For the genetic study it will be necessary samples of the index case and the parents.

Treatment

Medical treatment is based on aggressive hydration and if appropriate, bisphosphonates. Parathyroidectomy should be reserved for the most severely affected infants in whom medical therapy has failed.

Prognosis

NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without treatment.

Complications

Severe hyperparathyroidism lead to bone demineralization, and can affect infant development.

References

  1. Pollak, M. R., Brown, E. M., Chou, Y.H. W., Hebert, S. C., Marx, S. J., Steinmann, B., Levi, T., Seidman, C. E., Seidman, J. G. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75: 1297-1303, 1993.