Ma Dehua, Chen Fang, Chen Xiaoyun, Chen Yu
Department of Chest Surgery, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Linhai, China.
Front Surg. 2022 Apr 27;9:889753. doi: 10.3389/fsurg.2022.889753. eCollection 2022.
Crigler-Najjar syndrome type 2 (CNS-II) is a rare genetic disease that is associated with a lack of uridine diphosphate-glucuronosyltransferase. Esophageal carcinoma is the sixth most common cause of cancer-related death worldwide, for which surgery is the most effective treatment. Reports on patients with both conditions requiring surgery are limited and The impact of hyperbilirubinemia caused by CNS-II on the perioperative period is unknown. Previous studies have found that patients with Crigler-Najjar syndrome have an increased risk of gallstones and related complications, which also poses corresponding challenges to the treatment. Herein, we present a patient with CNS-II who underwent successful thoracoscopic surgery for esophageal carcinoma.
A 65-year-old male presented to our hospital with a choking sensation after eating. A physical examination showed yellowing of the sclera and skin. The patient manifested persistent jaundice since birth and had visited many hospitals, but the cause remained undiagnosed. We performed genetic testing, which confirmed CNS-II. Gastroscopy indicated esophageal carcinoma. A multidisciplinary team discussion was carried out to determine the appropriate treatment and perioperative management for this patient. The results show that surgical resection was the most appropriate approach. Finally, the patient underwent thoracoscopic surgery for esophageal carcinoma without complications.
Esophageal carcinoma in patients with Crigler-Najjar syndrome is a rare case, and perioperative management is key in the treatment process. It is necessary to pay close attention to the changes of the disease to prevent complications.
2型克里格勒-纳贾尔综合征（CNS-II）是一种罕见的遗传性疾病，与尿苷二磷酸葡萄糖醛酸转移酶缺乏有关。食管癌是全球第六大常见的癌症相关死亡原因，手术是其最有效的治疗方法。关于同时患有这两种疾病且需要手术治疗的患者的报道有限，CNS-II引起的高胆红素血症对围手术期的影响尚不清楚。先前的研究发现，克里格勒-纳贾尔综合征患者患胆结石及相关并发症的风险增加，这也给治疗带来了相应的挑战。在此，我们报告一例患有CNS-II的患者成功接受了食管癌胸腔镜手术。
一名65岁男性因进食后有哽咽感前来我院就诊。体格检查发现巩膜和皮肤发黄。该患者自出生以来一直表现为持续性黄疸，曾就诊于多家医院，但病因仍未确诊。我们进行了基因检测，确诊为CNS-II。胃镜检查显示为食管癌。组织了多学科团队讨论，以确定该患者的合适治疗方法和围手术期管理。结果表明手术切除是最合适的方法。最后，该患者接受了食管癌胸腔镜手术，未出现并发症。
克里格勒-纳贾尔综合征患者并发食管癌是一种罕见病例，围手术期管理是治疗过程中的关键。密切关注病情变化以预防并发症很有必要。
