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What is familial hypocalciuric hypercalcemia (FHH)?

waelhammad
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2022-11-19
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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 familial hypocalciuric hypercalcemia (FHH)?

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waelhammad
2022-11-19
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This is an autosomal dominant but is a cause for asymptomatic hypercalcemia. No treatment is usually required except in case of neonatal severe hypercalcemia due to homozygous or compound heterozygote state where total parathyroidectomy is mandatory. This condition is due to loss of function mutations in CaSR which results in abnormal sensing of blood calcium and increased secretion of PTH. There is an increased renal reabsorption of calcium.

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