Abstract
The calcium-sensing receptor has a key role in calcium homeostasis, it is involved
in the regulation of the serum calcium level within minutes via the secretion and
action of parathyroid and the excretion of calcium in the kidney in a negative feedback
manner. Mutations of the calcium sensing receptor gene leads to inactivating and activating
mutations resulting in diseases with hypercalcaemia and hypocalcaemia. The loss of
function mutations are associated with familial benign hypocalciuric hypercalcaemia
(FHH), an autosomal dominant disease characterised by lifelong mild hypercalcaemia,
low urinary calcium excretion, and inappropriate high parathyroid hormone levels,
sometimes difficult to distinguish from mild asymptomatic primary hyperparathyroidism.
Patients with FHH did not profit from parathyroidectomy, a calcium lowering therapy
is not necessary. The gain of function mutations of the calcium-sensing receptor are
associated with autosomal dominant hypocalcaemia (ADH), a disease characterised by
a generally asymptomatic hypocalcaemia, inappropriately high urinary calcium excretion
and normal PTH levels. A therapy to raise the serum calcium concentration has to be
done carefully and is only indicated in symptomatic patients, because of enhancement
of hypercalciuria with the risk of nephrocalcinosis and nephrolithiasis. Molecular
genetic analysis of the calcium sensing receptor gene facilitates the sometimes difficult
diagnosis. The development of compounds modulating the calcium sensing receptor function
and thereby the section of PTH may become an important role in treatment of diseases
of calcium metabolism.
Key words
Calcium-sensing receptor - familial hypocalciuric hypercalcaemia - autosomal dominant
hypocalcaemia
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Correspondence
Prof. Dr. med. Friedhelm Raue
Endokrinologische Gemeinschaftspraxis
Brückenstr. 21
69120 Heidelberg
Telefon: +49/62/21 43 90 90
Fax: +49/62/21 43 90 99
eMail: friedhelm.raue@raue-endokrinologie.de
