Journal
ANNALS OF CLINICAL BIOCHEMISTRY
Volume 48, Issue -, Pages 286-290Publisher
SAGE PUBLICATIONS INC
DOI: 10.1258/acb.2010.010139
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We present four cases with clinical and biochemical hypocalcaemia and evidence supportive of hypoparathyroidism. One case had been previously ascribed a diagnosis of idiopathic hypoparathyroidism. Following the detection of relative hypercalciuria, all cases were found to have autosomal dominant hypocalcaemia with hypercalciuria and mutations of the calcium-sensing receptor gene, of which two were novel. Increased awareness of this condition and access to genotyping enables prompt accurate diagnosis and cascade screening of first-degree relatives.
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