Pregnancy outcome in women with autosomal dominant hypocalcaemic hypercalciuric nephrocalcinosis

Abstract

Autosomal dominant hypocalcaemic hypercalciuric nephrocalcinosis is an extremely rare clinical condition caused by an activating mutation of calcium-sensing receptor. Patients presenting with this condition are generally asymptomatic of hypocalcaemia inspite of significant lower serum calcium levels. Attempts at administering vitamin D to correct their hypocalcaemia tend to result in hypercalciuria with its attendant complications of nephrocalcinosis and renal impairment. To our knowledge there are no reports of pregnancy outcomes in women suffering with this ailment, hence this report of three pregnancies in two such women. In view of the rarity of this condition we hope it will assist professionals managing such cases.

• Hypercalciuric
• hypocalcaemic
• nephrocalcinosis