Nuevas mutaciones en los genes que codifican el receptor del sensado de calcio como causa de hipercalcemia hipocalciúrica familiar.
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| Title: | Nuevas mutaciones en los genes que codifican el receptor del sensado de calcio como causa de hipercalcemia hipocalciúrica familiar. |
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| Alternate Title: | New mutations in the calcium-sensing receptor encoding genes as a cause of familial hypocalciuric hypercalcemia. |
| Authors: | Sarli, Marcelo1,2 (AUTHOR) sarlimarcelo@gmail.com, Genovesi, Elbio1 (AUTHOR), Levi, Luciana1 (AUTHOR), Robbiani, Damián1 (AUTHOR) |
| Source: | Medicina (Buenos Aires). mar/abr2025, Vol. 85 Issue 2, p429-433. 5p. |
| Subjects: | CALCIUM-sensing receptors, HYPERCALCEMIA, CELLULAR signal transduction, HYPERPARATHYROIDISM, MEDICAL logic |
| Abstract (English): | Hypercalcemia is a rare reason for consultation in clinical practice and is often an incidental finding in a routine biochemical evaluation. Its most frequent cause is primary hyperparathyroidism. Rarely, hypercalcemia is due to mutations in the calcium-sensing receptor (CaSR) signaling pathway that give rise to the different forms of familial hypocalciuric hypercalcemia (FHH). Two aspects are essential to suspect a probable FHH, the first is the existence of other cases in the family of elevated calcium and PTH associated with low urinary calcium excretion. In this context, a calcium clearance to creatinine clearance ratio (Ca urine 24 h. x serum Cr) / (Cr urine 24 h x serum Ca) ≤ 0.01 is highly suggestive of the diagnosis of FHH, which should subsequently be confirmed by sequencing of the genes involved in the different forms of FHH. Two families with FHH with mutations not described in the literature are presented. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): | La hipercalcemia es un motivo poco frecuente de consulta en la práctica clínica y muchas veces es un hallazgo incidental en una evaluación bioquímica ruti naria. Su causa más frecuente es el hiperparatiroidismo primario. Raramente, la hipercalcemia se debe a muta ciones en la vía de señalización del receptor sensor del calcio (CaSR) que dan lugar a las distintas formas de hi percalcemia hipocalciurica familiar (HHF). Dos aspectos son fundamentales para sospechar una probable HHF, el primero es la existencia de otros casos en la familia de elevación del calcio y la PTH asociados a una baja excreción urinaria de calcio. En este contexto, una rela ción entre la depuración de calcio y de creatinina= (Ca orina 24 h x Cr plasma) / (Cr orina 24 h x Ca plasma) ≤ 0.01 resulta altamente sugestivo del diagnóstico de HHF lo que ulteriormente se deberá confirmar mediante secuenciación de los genes involucrados en las distintas formas de HHF. Se presentan dos familias con HHF con mutaciones no descriptas en la literatura. [ABSTRACT FROM AUTHOR] |
| Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | MedicLatina |
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| Abstract: | Hypercalcemia is a rare reason for consultation in clinical practice and is often an incidental finding in a routine biochemical evaluation. Its most frequent cause is primary hyperparathyroidism. Rarely, hypercalcemia is due to mutations in the calcium-sensing receptor (CaSR) signaling pathway that give rise to the different forms of familial hypocalciuric hypercalcemia (FHH). Two aspects are essential to suspect a probable FHH, the first is the existence of other cases in the family of elevated calcium and PTH associated with low urinary calcium excretion. In this context, a calcium clearance to creatinine clearance ratio (Ca urine 24 h. x serum Cr) / (Cr urine 24 h x serum Ca) ≤ 0.01 is highly suggestive of the diagnosis of FHH, which should subsequently be confirmed by sequencing of the genes involved in the different forms of FHH. Two families with FHH with mutations not described in the literature are presented. [ABSTRACT FROM AUTHOR] |
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| ISSN: | 00257680 |
