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Phenytoin-associated severe hypocalcemia with seizures in a patient with a TSC2-PKD1 contiguous gene syndrome

机译:TSC2-PKD1连续基因综合征患者中与苯妥英有关的严重低钙血症伴癫痫发作

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We report the case of an inaugural episode of generalized seizures in a 40-year-old male with a history of chronic kidney disease associated with TSC2-PKD1 contiguous gene syndrome. This patient was under prophylactic treatment of phenytoin since 2 years because of a subarachnoid hemorrhage due to a ruptured cerebral aneurysm. Laboratory results revealed therapeutic range of phenytoin levels, but severe hypocalcemia associated with profound vitamin D deficiency that could not be explained by secondary hyperparathyroidism alone. The interaction of phenytoin on the P-450 cytochromes activity has been demonstrated to accelerate the rate of 25-hydroxivitamin D3 and 1α,25-dihydroxivitamin D3 catabolism into inactive metabolites, leading to hypocalcemia. Physicians should be aware of significant phenytoin interactions on vitamin D metabolism which may lead to symptomatic hypocalcemia in patients with chronic kidney disease.
机译:我们报道了在40岁的男性中出现首次癫痫发作的案例,该患者具有与TSC2-PKD1连续基因综合征相关的慢性肾脏疾病的病史。由于脑动脉瘤破裂导致的蛛网膜下腔出血,该患者自2年以来一直接受苯妥英钠的预防性治疗。实验室结果显示了苯妥英水平的治疗范围,但严重的低钙血症与严重的维生素D缺乏症相关,仅靠继发性甲状旁腺功能亢进不能解释。已证明苯妥英对P-450细胞色素活性的相互作用可加速25-羟基维生素D 3 和1α,25-二羟基维生素D 3 分解为非活性代谢产物的速率,导致低钙血症。医生应意识到苯妥英钠对维生素D代谢有明显的相互作用,这可能导致慢性肾脏病患者出现症状性低钙血症。

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