Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into <i>CYP24A1</i> Variants
Monoallelic or biallelic PVs in the CYP24A1 gene play a significant role in the aetiology of hypercalcemia and/or nephrocalcinosis/nephrolithiasis. Early genetic diagnosis is essential for guiding clinical management, particularly to avoid inappropriate vitamin D supplementation and to minimize the risk of long-term renal complications.
Authors
- Pınar Ata (ORCID: https://orcid.org/0000-0002-6688-2347)
- Mehmet Eltan (ORCID: https://orcid.org/0000-0001-6977-9620)
- Tülay Güran (ORCID: https://orcid.org/0000-0003-2658-6866)
- İlknur Kurt (ORCID: https://orcid.org/0000-0003-0649-7399)
- Saygın Abalı (ORCID: https://orcid.org/0000-0001-6552-2801)
- Abdullah Bereket (ORCID: https://orcid.org/0000-0002-6584-9043)
- Didem Helvacıoğlu (ORCID: https://orcid.org/0000-0001-8687-6326)
- Serap Turan (ORCID: https://orcid.org/0000-0002-5172-5402)
- Ceren Alavanda (ORCID: https://orcid.org/0000-0002-7327-3849)
- Zehra Yavaş Abalı (ORCID: https://orcid.org/0000-0002-8971-6181)
Institutions
- Kent Hastanesi (TR)
- Marmara University (TR)
Publication Details
- Journal
- Clinical Endocrinology
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1111/cen.70064
- Primary Topic
- Vitamin D Research Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00