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dc.contributor.authorAtay, Zeynep
dc.contributor.authorBereket, Abdullah
dc.contributor.authorHaliloǧlu, Belma
dc.contributor.authorAbalı, Saygın
dc.description.abstractBackground: NSHPT is a life-threatening disorder caused by homozygous inactivating calcium-sensing receptor ( CASR) mutations. In some cases, the CaSR allosteric activator, cinacalcet, may reduce serum PTH and calcium levels, but surgery is the treatment of choice. Objective: To describe a case of NSHPT unresponsive to cinacalcet. Patient and Results: A 23-day-old girl was admitted with hypercalcemia, hypotonia, bell-shaped chest and respiratory distress. The parents were first-degree cousins once removed. Serum Ca was 4.75mmol/l (N: 2.10-2.62), P: 0.83mmol/l (1.55-2.64), PTH: 1096pg/ml (9-52) and urinary Ca/Cr ratio: 0.5mg/mg. First, calcitonin was given (10IU/kg×4/day), and then 2days later, pamidronate (0.5mg/kg) for 2days. Doses of cinacalcet were given daily from day 28 of life starting at 30mg/m2 and increasing to 90mg/m2 on day 43. On day 33, 6days after pamidronate, serum Ca levels had fallen to 2.5mmol/l but, thereafter, rose to 5mmol/l despite the cinacalcet. Total parathyroidectomy was performed at day 45. Hungry bone disease after surgery required daily Ca replacement and calcitriol for 18days. At 3months, the girl was mildly hypercalcemic, with no supplementation, and at 6months, she developed hypocalcemia and has since been maintained on Ca and calcitriol. By CASR mutation analysis, the infant was homozygous and both parents heterozygous for a deletion-frameshift mutation. Conclusion: The predicted nonfunctional CaSR is consistent with lack of response to cinacalcet, but total parathyroidectomy was successful. An empiric trial of the drug and/or prompt mutation testing should help minimize the period of unnecessary pharmacotherapy. © 2014 Elsevier Inc.en_US
dc.subjectCalcimimetic; Calcium-sensing receptor; Mutation; Neonatal severe hyperparathyroidismen_US
dc.titleDepartment of Pediatric Endocrinology, Marmara Universityen_US
dc.contributor.departmentNovel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalceten_US

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