ArticlePediatric nephrology (Berlin, Germany)2026
Cinacalcet therapy in symptomatic 11-year-old girl with familial hypocalciuric hypercalcemia type 3.
Article in Pediatric nephrology (Berlin, Germany), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Case report: A Newly Identified G-protein Subunit α-11 Loss-of-Function Variant Causing Familial Hypocalciuric Hypercalcemia Type 2 in an Italian Kindred.Frontiers in endocrinology · 2026Article
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5 authors.
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Abstract
Familial hypocalciuric hypercalcemia (FHH) is a rare genetic disorder of calcium regulation. FHH type 3 (FHH3), caused by pathogenic variants in AP2S1, may present with clinically significant complications. Data on the treatment of this rare disorder is limited. CASE DESCRIPTION: We report an 11-year-old girl with a de novo heterozygous pathogenic variant in AP2S1 (NM_004069.6): c.44G>T p.(Arg15Leu). At the age of seven, our patient presented with hypercalcemia, hypocalciuria, and elevated parathyroid hormone (PTH), which were accompanied by low bone mineral density and persistent neurodevelopmental difficulties. Primary hyperparathyroidism and causative variants in the CASR gene were excluded, and cinacalcet was initiated. After a dose titration and vitamin D
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