Q:

What is Jansen disease?

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A 54-year-old female presents with drowsiness to the emergency. Her BP is 140/90 mm of Hg with pulse after rate 100/minute. Her investigations reveals serum creatinine 2.4 mg/dL, Na 140 mEq/L, K 4.3 mEq/L. Complete blood count (CBC) and liver function test (LFT) is normal. CT scan head is normal. Her past evaluation reveals a cervical lymph node fine needle aspiration cytology (FNAC) suggestive of granulomatous inflammation. Her bone marrow examination is suggestive of non-Hodgkin’s lymphoma.

What is Jansen disease?

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This is an autosomal dominant condition resulting from constitutive receptor functioning. It occurs due to mutations in PTH1R. ↑Ca, ↓Phosphate,

↓PTH is seen.

Short-limbed dwarfism occurs due to abnormal regulation of bone growth plate. Multiple cystic resorptive areas in bone occur, similar to those seen in severe primary hyperparathyroidism.

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