PDF(Pubmed)
Abstract：
Polycystic kidney disease (PKD) is the most common hereditary disorder of kidneys. In adults, PKD1 gene mutation almost always signifies its subtype, autosomal dominant polycystic kidney disease (ADPKD), or adult polycystic kidney disease. ADPKD is a multisystemic disorder giving rise to renal and extra-renal manifestations. The renal shutdown is the most feared renal complication while the development of intracranial aneurysms is considered the most lethal extra-renal feature. This can be attributed to the increased risk of rupture associated with aneurysms leading to a condition called subarachnoid hemorrhage (SAH). While being notorious for the subtle situations SAH often leads to, its association with the onset of seizures is a matter of high clinical significance. We present a patient with a kidney disorder (ADPKD) that has led to the onset of epilepsy. Five years after the diagnosis of ADPKD, he developed an aneurysm in the right internal carotid artery, for which he was treated conservatively. After four months, he presented with the onset of symptoms of SAH, which was confirmed by computed tomography angiography. Clipping was unable to be performed, and the patient was treated conservatively, this time as well. Recently, the patient presented with the onset of generalized tonic-clonic seizures, unable to be controlled with single anti-epileptics. He was stabilized by dual intravenous antiepileptics but on further workup, he was found to have a recurrence of a berry aneurysm for which he was referred to a neurosurgeon for a clipping procedure to be performed. The operation was successful, but the patient was still found to be an epileptic for which he was discharged with a long-term course of double anti-epileptics.
摘要：
多囊肾病（PKD）是肾脏最常见的遗传性疾病。在成年人中,PKD1基因突变几乎总是表示其亚型，常染色体显性多囊肾病（ADPKD），或成人多囊肾病。ADPKD是一种引起肾脏和肾外表现的多系统疾病。肾脏关闭是最令人恐惧的肾脏并发症，而颅内动脉瘤的发展被认为是最致命的肾外特征。这可以归因于与动脉瘤相关的破裂风险增加,导致称为蛛网膜下腔出血(SAH)的病症。虽然因SAH经常导致的微妙情况而臭名昭著，它与癫痫发作的关系具有很高的临床意义。我们介绍了一名患有导致癫痫发作的肾脏疾病（ADPKD）的患者。确诊ADPKD五年后,他在右颈内动脉出现了动脉瘤,他被保守地对待。四个月后,他出现了SAH的症状，通过计算机断层扫描血管造影证实。无法执行裁剪,病人接受了保守治疗，这一次也是。最近,患者出现全身性强直-阵挛性癫痫发作，不能用单一的抗癫痫药控制。他通过双重静脉注射抗癫痫药稳定下来，但在进一步的检查中，他被发现患有浆果动脉瘤复发，因此他被转介给神经外科医生进行夹闭手术。手术成功了,但患者仍然被发现是癫痫患者，他已经出院，接受了长期的双重抗癫痫药物治疗。
