ArticleCureus2026
Hypocalciuria as a Key to Diagnosis: A Rare Case of GNA11-Related Familial Hypocalciuric Hypercalcemia (FHH) Type 2.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors.
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Abstract
Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant disorder of calcium homeostasis characterized by mild hypercalcemia, non-suppressed parathyroid hormone (PTH), and hypocalciuria. FHH type 2 (FHH2), caused by mutations in the GNA11 gene, is particularly rare. Differentiating FHH from primary hyperparathyroidism (PHPT) is crucial to avoid unnecessary surgical intervention. We report a 63-year-old male with persistent hypercalcemia and inappropriately normal PTH levels. Biochemical evaluation revealed marked hypocalciuria with a fractional excretion of calcium of 0.0039. Imaging studies were negative for parathyroid adenoma. Whole-exome sequencing identified a heterozygous missense mutation in GNA11 (c.161C>T; p.Thr54Met), confirming FHH2. The patient was treated with cinacalcet 30 mg daily due to significant hypercalcemia calcium levels > 1 mg/dL above the upper limit. At three months, serum calcium decreased, and PTH normalized. This case underscores the importance of urinary calcium assessment and genetic testing in PTH-dependent hypercalcemia and highlights a potential therapeutic role for cinacalcet in selected FHH2 patients.
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