A young female with autosomal dominant hypoparathyroidism type 1 who had inherited the gene defect from her mother was under the care of paediatric endocrinologist. Since childhood she was on a large dose of calcium (elemental calcium 5 g) along with Vitamin D, potassium and magnesium replacements. Despite careful monitoring there was significant fluctuations in serum calcium levels which led to recurrent hospital admissions with hypercalcaemia and acute kidney injury or severe symptomatic hypocalcaemia. She presented frequently with hypocalcaemic seizures, one such event leading to fall, fracture of occipital bone and subdural haematoma. Ultrasound of the renal tract showed nephrocalcinosis and she had developed stable chronic kidney disease. At the age of 17 she was commenced on subcutaneous recombinant human parathyroid hormone (rhPTH1-84) 100 μg once daily which was switched to subcutaneous teriparatide (rhPTH1-34) 20 μg twice daily. Despite this there was huge fluctuation in serum calcium levels. Hence she was commenced on continuous subcutaneous infusion of teriparatide via omnipod insulin pump. The daily calcium and Vitamin D requirement and the wide fluctuations in calcium were reduced and hospital admissions due to hypocalcaemic seizures were avoided. Although twice daily rhPTH1-34 provides acceptable treatment of hypoparathyroidism in most patients, there is often nonphysiological fluctuation in serum calcium. To date, continuous subcutaneous delivery of PTH1-34 via pump provides the closest approach to physiological replacement therapy for hypoparathyroidism.
07 Nov 2016 - 09 Nov 2016