Background: Hypoparathyroidism is typically managed with calcitriol/alfacalcidol. Close monitoring of serum calcium is required as under-treatment causes symptomatic hypocalcaemia while over-treatment will cause nephrocalcinosis. We report three cases who demonstrated resistance to treatment during an intercurrent illness, necessitating increase in medication doses and monitoring.
Objective/hypotheses/method/results: Case series Case 1: Two-month-old boy with newly diagnosed hypoparathyroidism due to GCMB2 mutation normalised his Ca on standard treatment withalfacalcidol and calcium supplements. He however developed bronchiolitis during admission, resulting in precipitous drop in cCa (1.53 mmol/l) and seizures requiring IV Ca infusion and significant increase in medication to normalise serum Ca (alfacalcidol 4001500 ng/day and calcium supplements 1248 mmol/day). He eventually needed rPTH to achieve Ca homeostasis. Case 2: A male infant diagnosed with hypoparathyroidism at birth responded to standard treatment. At 2 months he presented with bronchiolitis and recurrent hypocalcaemic seizures requiring increase in dose of alfacalcidol (4001500 ng/day) and Ca supplementation. However, following resolution of illness, he required rapid reduction in dosage due to hypercalcaemia. Case 3: A 6-month-old boy with Sanjad-Sakati syndrome on standard treatment for hypoparathyroidism presented with symptomatic hypocalcaemia following viral gastritis. He required increase in dose of alfacalcidol upto 3000 ng/day to normalise serum Ca. He was however lost to follow-up and presented again at 2 years of age with symptomatic hypercalcaemia (Ca>3 mmol/l) and severe nephrocalcinosis. To normalise his serum Ca and prevent further progression of nephrocalcinosis, he was commenced on rPTH.
Conclusion: Intercurrent illness in infants with hypoparathyroidism can lead to marked resistance to standard treatment and symptomatic hypocalcaemia. The underlying pathophysiology remains unknown, but would seem to involve more than just intolerance to oral medication or feeds. During such periods, close monitoring of calcium levels is required, with quick escalation in medication doses, as well as reduction to baseline on recovery to prevent over-treatment.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology