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Example clinical scenario

During investigations for fatigue, a 43-year-old man had a series of screening blood tests that were unremarkable other than adjusted serum calcium of 3.1 mmol/l. Prior to any further investigations he discovered that his sister had undergone similar investigations for hypercalcaemia three years earlier, following an episode of pancreatitis and kidney stones, without any underlying anomaly being identified. Subsequently, 24-hour urine collection was arranged for this man and hypocalciuria was confirmed (1.6 mmol/24 hours (normal >4 mmol/24 hours).

When to consider genomic testing

  • First exclude common causes of hypercalcaemia, which include:
    • primary (or tertiary) hyperparathyroidism;
    • multiple myeloma;
    • metastatic malignancy;
    • paraneoplastic hypercalcaemia due to PTHrp secretion;
    • iatrogenic hypercalcaemia from calcium and/or vitamin D supplementation; and
    • sarcoidosis.
  • Genomic testing should be considered in the following instances:
    • When moderate to severe hypercalcaemia is asymptomatic.
    • For patients with a nephrocalcinosis/nephrolithiasis, if acquired causes have been excluded.
    • Where there is a family history of familial hypocalciuric hypercalcaemia (FHH) or unexplained asymptomatic hypercalcaemia.
    • For patients with a primary renal tubulopathy presenting as one of the following conditions:
      • hypokalaemic alkalosis with normal or low blood pressure (e.g. Bartter/Gitelman syndromes);
      • hypokalaemic alkalosis with elevated blood pressure (e.g. Liddle syndrome);
      • hyperkalaemic acidosis with low/normal BP (PHA type 1);
      • hyperkalaemic acidosis with elevated BP (PHA type 2);
      • hypokalaemic acidosis (pRTA and renal Fanconi syndromes);
      • hypomagnesaemia;
      • nephrogenic diabetes insipidus; or
      • a rare type of renal tubulopathy (seen in an expert centre).

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  • Last reviewed: 13/06/2024
  • Next review due: 13/06/2025
  • Authors: Dr Matt Hall
  • Reviewers: Dr Asheeta Gupta, Professor Richard Sandford, Professor John A Sayer