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Desafíos y trampas en el diagnóstico y manejo de la hipercalcemia gestacional severa
Charlotte Dewdney1, Stephanie Penswick1, Carolyn Chiswick2
1Royal Infirmary of Edinburgh, Centre for Endocrinology and Diabetes, Edinburgh, United Kingdom.
Resumen
Este caso destaca la hipercalcemia gestacional causada por deficiencia de CYP24A1, un raro trastorno genético que afecta el metabolismo de la vitamina D durante el embarazo. El diagnóstico puede ser un desafío debido a la superposición de síntomas con el embarazo normal.
Área de la Ciencia:
- Endocrinología; Genética; Obstetricia
Sus antecedentes:
- La hipertensión inducida por el embarazo y la hipercalcemia severa presentaron un desafío diagnóstico.; Se observaron niveles elevados de metabolitos de la vitamina D (25(OH)D₃ y 1,25(OH)₂D₃) y hormona paratiroidea (PTH) suprimida.; Se excluyeron la malignidad y la enfermedad granulomatosa como causas.
Objetivo del estudio:
- Investigar la causa de la hipercalcemia severa persistente en una paciente embarazada.; Identificar la base genética subyacente del trastorno.; Describir los desafíos diagnósticos para reconocer afecciones genéticas específicas durante el embarazo.
Principales métodos:
- Presentación y manejo de casos clínicos.; Análisis bioquímico de calcio, PTH y metabolitos de la vitamina D.; Análisis genético de variantes patogénicas en CYP24A1.; Imágenes renales para nefrolitiasis y nefrocalcinosis.
Principales resultados:
- La paciente presentó hipercalcemia severa, calcitriol elevado y PTH suprimida.; Las pruebas genéticas revelaron variantes patogénicas heterocigotas compuestas en CYP24A1.; La hipercalcemia de la madre persistió posparto y se normalizó después de la lactancia.; El neonato experimentó hipocalcemia transitoria.
Conclusiones:
- Se diagnosticó hipercalcemia gestacional debida a deficiencia de CYP24A1.; La deficiencia de CYP24A1 altera la degradación del calcitriol, lo que conduce a hipercalcemia.; Los desafíos diagnósticos surgen de los cambios fisiológicos relacionados con el embarazo que pueden enmascarar o imitar esta afección.
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