PKC Pathway intervention was superior to cinacalcet in achieving biochemical control, particularly of PTH and ALP. There is minimal morbidity and mortality in the operative management of 2HPTH. In our view, surgery should continue to be offered as a first line management strategy. CaSR is expressed in several tissues andactsasacalciostat, sensing serum calcium level. In the parathyroid gland, the activation of CaSR modulates parathormone synthesis and secretion. In the kidney, CaSR is expressed in all nephron segments. Depending on the localization, CaSR has an inhibitory effect on the reabsorption of calcium, potassium, sodium, and water.5 CaSR receptor has been identified in other tissues, including calcitonin cells, gut, skeleton, and brain, where its function and physiologic importance remain to be explained.3 In NPHT, surgery is the treatment of choiceandis effective inmost cases.6 As an alternative to surgery, bisphosphonates have been shown to be efficient in handling hypercalcemia.7,8 Cinacalcet increases Estrogen Receptor Pathway CaSR affinity for calcium leading to diminished PTH secretion and increased renal calcium excretion.
Little is known about the use of cinacalcet in NPHT to improve the function of mutant CaSR.We report the case of a girl diagnosed at birth with NPHT and treated successfully with bisphosphonates and cinacalcet after surgery had failed. CASE REPORT The patient presented in the first week of life with poor feeding, lethargy, and apnea. The laboratory tests revealed: hypercalcemia 8.25 mmol/L and HDAC hyperparathyroidism 95.4 pmol/L. The familyhistory, pregnancy, and birth were uneventful. Serum calcium and PTH levels were normal in both parents. The brother of the patient was asymptomatic, had normal blood calcium, slightly increased PTH, and decreased calciuria on a urinary spot analysis. He was genetically tested and is a heterozygous carrier. When the patient was 1 month old, 4 parathyroid glands were removed, 1 of which was transplanted into the left arm. Histologic examination confirmed primary hyperparathyroidism caused by chief cell hyperplasia. Postoperatively, PTH and calcium levels remained high. The left arm implant was removed, but the patient continued to have abnormal values. Between January 2001 and February 2002, sestamibi 99mTc scanning, MRI, and venous sampling of PTH showed suspected focus of residual PTH secretion in the Fostamatinib anterior mediastinum and on both arms.
The patient underwent 6 interventions, none of which detected residual parathyroid tissue. The hypothesis to explain the persistence of hyperparathyroidism was amiliary spread of the parathyroid cells. At that time, under a hyperhydration regimen but with a normal calcium diet, laboratory contrary results were as follows: calcium 5 mmol/L, PTH 25 to 30 pmol/L, phosphate 0.7 mmol/L, 25 OH cholecalciferol 50 nmol/L, urinary calcium/creatinine ratio 0.1. Bone turnover markers: urinary molar fraction deoxypridinoline/ creatinine 382.3, serum osteocalcin: 108 mg/L, alkaline phosphatase 490 U/L.9 The creatinine clearance was 100 mL/min 3 1.73 m2. The renal ultrasound showed nephrocalcinosis. The bone mineral density of the spine L2 to L4 showed a low z score adjusted for gender and age. The child did not present with fractures or bone deformity on physical examination.