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Reported Question / Answer
Q.) A 6 month old boy weighing 3.2 kg presents with recurrent vomiting and polyuria.Investigations show blood area 60 mg/dl creatinine 0.7 mg/dl, calcium 12.8 mg/dl, phosphate 3 mg/dl, pH 7.45, bicarbonate 25 mEq/L and PTH 140 pg ml(normal<60 pg/ml). Daily urinary excretion is reduced.Ultrasound abdomen show bilateral nephrocalcinosis.The most likely diagnosis is -
1)
Batter syndrome
2)
Mutation of the calcium sensing receptor
3)
Pseudo-pseudohypoparathyroidism
4)
Parathyroid adenoma
5)
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Answer :
2
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