English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Zendy Pro

Presents the zaia usage as premium feature

ZAIA

Presents AI Discovery search usage as a premium feature

AI Discovery

Presents AI Discovery explain and summary usage as a premium feature

Content Analysis

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Presents the pdf analysis as premium feature

PDF Analysis

1500 Top-up

3000 Top-up

Zendy Basic

2500 Top-up

Zendy Unlimited

Presents the access of premium content as premium feature

Premium Content

BES Glasgow – November 2018 Blood results indicated mild chronic kidney disease and normal vitamin D levels, raised serum calcium (3.24mmol/L), low serum phosphate (0.67mmol/L) and a slightly raised parathyroid hormone (11.9pmol/L). Her 24-hour urinary calcium excretion was inappropriately low at 2.2mmol with a fractional excretion of calcium of 0.0052 confirming hypocalciuria in the presence of hypercalcaemia. Genetic testing confirmed the presence of the CASR gene mutation [c.2444A>G, p.(Lys815Arg)]. However, the disproportionately high serum calcium level prompted further investigation. Her bone density scan showed osteopenia. An ultrasound and parathyroid MIBI scan (Figure 1) detected a right lower pole parathyroid adenoma. After informed discussion she underwent parathyroidectomy (histology confirmed a parathyroid adenoma). Immediately post-operatively her calcium fell down to 2.51mmol/L (Table 1) and then rose back to 2.77 mmol/L. Her parathyroid hormone level also fell down to 0.8pmol/L then rose back to 2.9pmol/L, both indicating continued mild hypercalcaemia of FHH. INVESTIGATION AND MANAGEMENT Familial hypocalciuric hypercalcemia (FHH) is a benign condition characterized by asymptomatic hypercalcemia, relative hypocalciuria and variable parathyroid hormone levels. It is caused by a loss-of-function mutation in the calcium-sensing receptor (CASR) gene. The occurrence of both FHH and primary hyperparathyroidism (PHPT) in the same patient has rarely been described. We report an interesting case highlighting the challenges involved in diagnosis and management.

An unusual case of primary hyperparathyroidism in a patient with concomitant familial hypocalciuric hypercalcaemia