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Article

Cinacalcet therapy in symptomatic 11-year-old girl with familial hypocalciuric hypercalcemia type 3.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2026

Kołbuc Marcin, Beck Bodo B, Bukowska-Olech Ewelina, Jamsheer Aleksander, Zaniew Marcin

Abstract excerpt

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...

Topics

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Adaptor Protein Complex 2
Bone Density
Calcium
Child
Cholecalciferol

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Parathyroid Hormone

Treatment Outcome

Source

Identifiers

PMID: 41501259
DOI: 10.1007/s00467-025-07135-z

Genes

AP2S1
PTH
CASR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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