Publication: Rifampin monotherapy for children with idiopathic infantile hypercalcemia
Rifampin monotherapy for children with idiopathic infantile hypercalcemia
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Lenherr-Taube, N., Furman, M., Assor, E., Thummel, K., Levine, M. A., & Sochett, E. (2023). Rifampin monotherapy for children with idiopathic infantile hypercalcemia. Journal of Steroid Biochemistry and Molecular Biology, 231, 106301. https://doi.org/10.1016/j.jsbmb.2023.106301
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Abstract
Idiopathic Infantile Hypercalcemia (IIH) is characterized by hypercalcemia and hypercalciuria owing to PTH-independent increases in circulating concentrations of 1,25(OH)2D. At least 3 forms of IHH can be distinguished genetically and mechanistically: infantile hypercalcemia-1 (Hypercalcemia, Infantile, 1; HCINF1) due to CYP24A1 mutations results in decreased inactivation of 1,25(OH)2D; HCINF2 due to SLC34A1 mutations results in excessive 1,25(OH)2D production; and HCINF3 in which a variety of gene variants of uncertain significance (
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- Furman, Michelle
- Assor, Esther
- Thummel, Kenneth
- Levine, Michael A
- Sochett, Etienne
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Lenherr-Taube, N., Furman, M., Assor, E., Thummel, K., Levine, M. A., & Sochett, E. (2023). Rifampin monotherapy for children with idiopathic infantile hypercalcemia. Journal of Steroid Biochemistry and Molecular Biology, 231, 106301. https://doi.org/10.1016/j.jsbmb.2023.106301
