What is it about?
a genotype-phenotype correlation between a gremlin mutation of Calcium Sensing Receptor gene and abnormalities in both calcium-phosphate metabolism and parathyroid outgrowth/deranging. A functional study of such a mutation is provided.
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Why is it important?
The need of an accurate clinical evaluation of young patient with hypercalcemic condition and slight increase of PTH secretion. Very often right interpretation of biochemical results may be sufficient to suspect a genetic origin of a familial metabolic disorder such as Familial Hypercalcemia Hypocalciuria syndrome, reducing, if not abolishing, the risk for a useless and unnecessary parathyroid surgery.
Perspectives
It is important to take in mind that genetic diagnosis must always follow a clinical diagnosis and that negative result of a mutational analysis cannot completely exclude the possibility that it is actually the clinically suspected genetic syndrome. With few exceptions, when we face a hyperparathyroidism, or a condition that resembles it much, we must not proceed with haste, but we have to take the necessary time to better define biochemical and clinical phenotypes of the case in front of us.
Dr. ALBERTO FALCHETTI
Endosmet, Villa Donatello, Private Hospital, FLorence, Italy
Read the Original
This page is a summary of: A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia, February 2012, Bioscientifica,
DOI: 10.1530/EJE-11-0953.
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