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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease pseudohypoparathyroidism
Symptom C0020598|hypocalcemia
Sentences 2
PubMedID- 25949499 The rare variant of hyperphosphatemia with vitamin d deficiency has been attributed to an acquired pseudohypoparathyroidism type ii resulting from hypocalcemia and/or receptor desensitization from chronically elevated parathyroid hormone (pth) values .
PubMedID- 25285147 Results: the patient initially presented with severe symptomatic hypocalcemia and was diagnosed with pseudohypoparathyroidism type 1b at an outside hospital and started on calcitriol 2.25 mcg twice daily with good response but calcitriol was stopped later for cost concerns which led to recurrence of symptoms, worsening hypocalcemia and increased parathormone levels.

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