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SPINK 突变型慢性胰腺炎的普厄斯托手术:一例罕见病例报告。

Puestow surgery in a SPINK mutation chronic pancreatitis: a rare case report.

作者信息

Solis-Pazmino Paola, Hernandez Iván, Gordon Erika, Clavijo Estefania, Alvarado Estefania, Lincango Eddy, Cedeño Andrés

机构信息

Department of General Surgery, Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil.

Hospital Pablo Arturo Suárez, Quito 170103, Ecuador.

出版信息

J Surg Case Rep. 2024 Oct 3;2024(10):rjae614. doi: 10.1093/jscr/rjae614. eCollection 2024 Oct.

DOI:10.1093/jscr/rjae614
PMID:39372393
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11449831/
Abstract

This case report highlights the clinical presentation and surgical management of a 27-year-old man with recurrent pancreatitis attributed to a homozygous SPINK1 (N34S) mutation. The patient, who experienced multiple hospital admissions, underwent extensive diagnostic evaluations, including imaging and genetic testing, confirming the hereditary nature of his condition. Despite unsuccessful endoscopic interventions, a laparoscopic Puestow procedure was performed, aiming to alleviate symptoms and improve pancreatic drainage. Postoperatively, the patient's recovery was successful, and he was discharged with supplemental pancreatic enzyme therapy. The differential diagnosis included autoimmune pancreatitis and non-hereditary chronic pancreatitis. This case underscores the challenges and considerations in the diagnosis and management of hereditary pancreatitis associated with SPINK1 mutations, emphasizing the role of surgical interventions for selected cases.

摘要

本病例报告重点介绍了一名27岁男性复发性胰腺炎的临床表现及外科治疗情况,该患者的胰腺炎归因于纯合子SPINK1(N34S)突变。该患者多次入院,接受了包括影像学和基因检测在内的广泛诊断评估,证实了其病情的遗传性。尽管内镜干预未成功,但仍进行了腹腔镜Puestow手术,旨在缓解症状并改善胰腺引流。术后,患者恢复顺利,出院时接受补充性胰酶治疗。鉴别诊断包括自身免疫性胰腺炎和非遗传性慢性胰腺炎。本病例强调了与SPINK1突变相关的遗传性胰腺炎诊断和管理中的挑战与注意事项,突出了手术干预在特定病例中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e832/11449831/41ce6b39e73b/rjae614f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e832/11449831/008df1be10b1/rjae614f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e832/11449831/9896495b0861/rjae614f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e832/11449831/41ce6b39e73b/rjae614f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e832/11449831/008df1be10b1/rjae614f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e832/11449831/9896495b0861/rjae614f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e832/11449831/41ce6b39e73b/rjae614f3.jpg

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本文引用的文献

1
The clinical and genetic features of hereditary pancreatitis in South Australia.南澳大利亚遗传性胰腺炎的临床和遗传特征。
Med J Aust. 2022 Jun 20;216(11):578-582. doi: 10.5694/mja2.51517. Epub 2022 May 16.
2
Hereditary pancreatitis: An updated review in pediatrics.遗传性胰腺炎:儿科最新综述
World J Clin Pediatr. 2022 Jan 9;11(1):27-37. doi: 10.5409/wjcp.v11.i1.27.
3
Differences in Age at Onset of Symptoms, and Effects of Genetic Variants, in Patients With Early vs Late-Onset Idiopathic Chronic Pancreatitis in a North American Cohort.
早发性和晚发性特发性慢性胰腺炎患者在北美队列中的发病年龄差异及遗传变异的影响。
Clin Gastroenterol Hepatol. 2021 Feb;19(2):349-357. doi: 10.1016/j.cgh.2020.03.047. Epub 2020 Mar 30.
4
Laparoscopic Puestow Procedure for Chronic Pancreatitis in Children.小儿慢性胰腺炎的腹腔镜Puestow手术
J Indian Assoc Pediatr Surg. 2020 Jan-Feb;25(1):55-57. doi: 10.4103/jiaps.JIAPS_235_18. Epub 2019 Nov 27.
5
Natural history of SPINK1 germline mutation related-pancreatitis.SPINK1 种系突变相关性胰腺炎的自然病史。
EBioMedicine. 2019 Oct;48:581-591. doi: 10.1016/j.ebiom.2019.09.032. Epub 2019 Oct 15.
6
Laparoscopic longitudinal pancreaticojejunostomy for chronic pancreatitis: Systematic review of the literature.腹腔镜胰肠纵向吻合术治疗慢性胰腺炎:文献系统评价。
Surgeon. 2020 Jun;18(3):137-141. doi: 10.1016/j.surge.2019.07.002. Epub 2019 Aug 21.
7
Lateral Pancreaticojejunostomy for Chronic Pancreatitis and Pancreatic Ductal Dilation in Children.儿童慢性胰腺炎和胰管扩张的胰体尾空肠吻合术
J Laparoendosc Adv Surg Tech A. 2018 Nov;28(11):1397-1402. doi: 10.1089/lap.2018.0136. Epub 2018 Jun 6.
8
Laparoscopic Puestow: lateral pancreaticojejunostomy.腹腔镜下普斯托手术:胰体尾空肠侧侧吻合术。
Surg Endosc. 2016 Dec;30(12):5624. doi: 10.1007/s00464-016-4920-z. Epub 2016 Apr 29.
9
Modified Puestow procedure for the management of chronic pancreatitis in children.改良 Puestow 手术治疗儿童慢性胰腺炎。
J Pediatr Surg. 2013 Nov;48(11):2271-5. doi: 10.1016/j.jpedsurg.2013.03.048.