PDF(Pubmed)
Abstract：
Myotonic dystrophy is a debilitating genetic disease that carries a predilection for a variety of comorbidities. Kidney stone disease in this population can present a variety of unique challenges related to patient age, comorbidities, and social factors. We present a video review case of a 13-year-old girl with myotonic dystrophy who was treated surgically for large bilateral stone burden, bilateral retained ureteral stents with nephrostomy tubes, and right ureteral stricture. The patient had multiple prior urologic procedures and recurrent admissions for infection prior to presentation. Preoperative planning included non-contrast CT imaging, admission to an intensive care unit, and multidisciplinary discussion of treatment and goals. Through combined antegrade and retrograde approaches, the patient\'s stone burden was cleared, right ureteral stricture was treated, and all tubes were able to be removed in two major procedures and one minor cystoscopy with stent removal under anesthesia. Early referral to tertiary care centers and involvement of multiple specialist teams may help reduce perioperative risk and minimize the number of surgeries. Additionally, patients at high anesthesia risk may benefit from concurrent percutaneous nephrolithotomy with endopyelotomy.
摘要：
强直性肌营养不良是一种使人衰弱的遗传疾病，易引起多种合并症。该人群的肾结石疾病可能会出现与患者年龄相关的各种独特挑战，合并症,和社会因素。我们介绍了一个视频回顾案例，该案例涉及一名13岁的强直性肌营养不良女孩，该女孩因双侧结石负担较大而接受手术治疗，双侧保留的输尿管支架与肾造瘘管，和右输尿管狭窄。患者在就诊前曾进行过多次泌尿外科手术，并因感染而反复入院。术前计划包括非造影CT成像，入住重症监护室,以及治疗和目标的多学科讨论。通过顺行和逆行相结合的方法，病人的结石负担被清除了，治疗右输尿管狭窄，和所有的管都能够在两个主要的程序和一个小膀胱镜检查，并在麻醉下取出支架。早期转诊到三级护理中心和多个专家团队的参与可能有助于降低围手术期风险并最大程度地减少手术数量。此外,高麻醉风险的患者可从经皮肾镜取石术和髓内切开术中获益.
