Background: Congenital hypoparathyroidism (CH) is a rare disease that usually responds well to conventional therapy with active vitamin D and calcium supplementation. The successful use of continuous s.c. recombinant parathyroid hormone (rhPTH134) infusion as a hormone replacement has been demonstrated in cases of CH caused by autosomal dominant hypoparathyroidism or autoimmune polyendocrine syndrome type 1.
Objective and hypotheses: We report the successful use of s.c. rhPTH pump therapy in the management of CH resistant to conventional therapy due to severe malabsorption.
Method: This now 13-year-old boy, born to consanguineous Asian parents, was diagnosed with CH in infancy, which was initially managed on conventional treatment with oral calcium supplements and vitamin D analogues. He was subsequently diagnosed with sensory neural deafness, developmental delay and cryptogenic liver disease requiring liver transplant at the age of 2 years. He was also noted to have persistent diarrhoea with hypoalbuminaemia, lymphopenia and developed recurrent severe hypocalcaemia. Video capsule endoscopy confirmed extensive intestinal lymphangectasia which was not amenable to surgery. Despite alfacalcidol doses of 200 ng/kg and oral calcium supplements of 300 mg/kg per day, serum calcium remained between 1.26 and 1.98 mmol/l. He had repeated hospital admissions with either hypocalcaemic seizures or symptomatic refractory hypocalcaemia requiring i.v. calcium infusions. He was started on a continuous s.c. infusion of rhPTH134 (teriparatide) delivered via a Medtronic pump on a dose of 0.16 mg/kg per day.
Results: He was successfully weaned off alphacalcidol, oral calcium and magnesium supplements and his serum calcium normalised and stabilised within days of commencing s.c. PTH. The dose of teriparatide is titrated against serum calcium and urinary calcium excretion.
Conclusion: We describe the first case of successful use of continuous s.c. rhPTH134 therapy in a patient with CH and associated severe malabsorption.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology