| Autor: |
Amy Vora, Laura Caldwell, Yin Oo |
| Rok vydání: |
2019 |
| Předmět: |
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| Zdroj: |
Journal of the Endocrine Society |
| ISSN: |
2472-1972 |
| DOI: |
10.1210/js.2019-sat-504 |
| Popis: |
Background The estimated prevalence of primary hyperparathyroidism (PHPT) is one per 1000 whereas familial hypocalciuric hypercalcemia (FHH) is one per 78,000. Distinguishing between PHPT andFHHcan be challenging due to the similarity in biochemical picture. PTH can be normal in 48% of patients with PHPT and 80% of patients withFHH. PHPT patients are generally older and has a history of normal serum calcium with a new onset hypercalcemia. Endocrine society guideline suggests using 24h-CCCR (calcium-to-creatinine clearance ratio) to differentiate with 24h-CCCR 2% as an indicator for PHPT. Case A 28 years-old African American lady with bipolar disorder is noted to have asymptomatic hypercalcemia in the range of11.1 to 12.2 mg/dl (ref: 8.4-10.3) by routine lab since 2012 with PTH level of 14 to 155 pg/ml (ref: 12-88). She has never been treated with Lithium. Vitamin D was 25-32 ng/ml (ref: 30-100). Phosphorous was 2-2.4 mg/dl (ref: 2.4-4.5). Magnesium was normal. She has no history of fracture nor renal stone. She has no family history of hypercalcemia. She had a decline in creatine clearance from 96 ml/min to 67 ml/min over a year. 24h-CCCR was < 1% and remained low even after calcium supplementation. No parathyroid adenoma was localized on imaging. Plasma metanephrine was normal. Due to 24h-CCCR T). Discussion FHHis an autosomal-dominant disease with a loss of function mutation at CASR (FHH1),GNA11 (FHH2) or AP2S1 (FHH3). FHH1 is the most common and constitutes 65-90% ofFHH. It has a high degree of penetrance. Loss-of-function mutation inCASR causes reduced sensitivity of calcium sensing in parathyroid chief cells resulting in PTH secretion, increased reabsorption of calcium in renal tubule and increased serum calcium.Family history of hypercalcemia and 24h-CCCR |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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