The relationship between nephrocalcinosis, vitamin D therapy and ranal failure in ADH – The debate continues.
Arpandev Bhattacharyya, Ronald Greenham, David James Tymms
British Journal of Renal Medicine 1999;page 23.
Missense mutation in Autosomal Dominant Hypocalcaemia (ADH) causes gain in function of the calcium sensing receptor, as a result of which the parathyroid gland senses a low calcium as normal and parathyroid hormone (PTH) secretion remains unchanged, producing persistent hypocalcaemia.