ESPE Abstracts

XY, 14 years old, was born at term, birth weight 4900 g, length 54 cm. No problems reported in the early years of life. Due to recurrent abdominal pain for several years associated with dyspepsia, at 13 years he performed blood tests, with evidence of hypocalcemia (6.1 mg/dl) and hyperphosphatemia (8.6 mg/dl). For this reason, he was admitted to our ward: the weight was Kg 67.1 (1.8 SDS), height 168 cm (1.5 SDS), pubertal stage 4, objective examination in the norm. The exams performed in the department highlighted primary hypoparathyroidism with the associated blood abnormalities (total and ionized hypocalcemia, hyperphosphatemia, hypomagnesemia, mild hypercalciuria, hyper phosphaturia, 25 OH D3 and alkaline phosphatase in the limits, PTH below the norm). The ECG holter ruled out conduction disturbances (QTc 450 msec). The brain NMR documented Fahr syndrome. Renal ultrasound ruled out nephrocalcinosis. No abnormalities of chromosome 22, he had mutation activating the CaSR gene. Bone densitometry was normal. Parents have normal PTH and calcium values. He had intravenous therapy with calcium associated with calcitriol and magnesium per os, without meaningful change the blood picture, but with the appearance of hypercalciuria. The vitamin and calcium and magnesium intake by mouth were reduced to the doses indicated by the literature for the treatment of hypoparathyroidism, Now the values of calcium and magnesium remain below the norm (Ca 8 mg/dl, P 7 md/dl), but he refers tetany, myalgia (CK higher than normal), asthenia, abdominal pain, nausea. QTc is < 500 msec. For the appearance of nephrocalcinosis, he started therapy with thiazide diuretic. In practice, he felt better when the tests were worse.