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

Autosomal Dominant Hypocalcemia

Inicio Tubulopathies Autosomal Dominant Hypocalcemia

Features

Autosomal dominant hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia, due to insufficient parathyroid hormone (PTH) levels to maintain normal extracellular fluid calcium concentration.

Clinical Manifestations

Acute hypocalcemia causes neuromuscular irritability, including perioral paresthesias, tingling of the fingers and toes, and spontaneous or latent tetany with grand mal seizures and even laryngeal spasm. Chronically, hypocalcemia can be asymptomatic and only become apparent after routine blood screening. Alternatively, it can manifest with mild neuromuscular irritability, calcification of the basal ganglia, extrapyramidal disorders, cataracts, alopecia, abnormal dentition, coarse brittle hair, mental retardation, or personality disorders.

Diagnosis

Hypocalcemia and hyperphosphatemia are found in the presence of normal renal function. Serum PTH levels are low or undetectable. Renal calcium excretion is elevated.

Genetics

Autosomal dominant hypoparathyroidism is caused by activating mutations of the CASR gene. Since the receptor negatively regulates calcium tubular resorption, receptor activation leads to hypercalciuria even in the presence of hypocalcemia; and because the receptor participates in a negative feedback loop regulating parathyroid function, CASR activation is accompanied by hypoparathyroidism. Occasionally activating CASR mutations can produce sporadic hypoparathyroidism as well. For the genetic study it will be necessary samples of the index case and the parents.

Treatment

Thiazides can be useful in reducing calciuria, and can maintain normal serum calcium levels associated with 1,25-dihydroxyvitamin D3 or 1-alpha-hydroxyvitamin D3.

Prognosis

Complications

Treatment with vitamin D or its metabolites may induce hypercalciuria, nephrocalcinosis, and renal impairment.

References

  1. Baron, J., Winer, K. K., Yanovski, J. A., Cunningham, A. W., Laue, L., Zimmerman, D., Cutler, G. B., Jr.Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.Hum. Molec. Genet. 5: 601-606, 1996.