Surgical treatment of hereditary pancreatitis in four children in one and the same family

封面


如何引用文章

全文:

开放存取 开放存取
受限制的访问 ##reader.subscriptionAccessGranted##
受限制的访问 订阅或者付费存取

详细

BACKGROUND: Hereditary pancreatitis is an autosomal dominant disease with high gene penetration (80%), manifested with signs of chronic and recurrent pancreatitis. This pathology is rarely met in children. In the world literature, the idea of surgical approach in treating hereditary pancreatitis is evidently supported because it helps to eliminate symptoms of pancreatic obstruction, to prevent complications and to slow down the process of pancreatic atrophy.

CLINICAL CASE DESCRIPTION: The article describes a case of hereditary pancreatitis with an autosomal dominant type of inheritance, with a mutation in PRSS1 gene in children in one and the same family. Due to the longitudinal pancreatic jejunostomy, patients could have a good clinical remission.

CONCLUSION: The discussed clinical case describes a successful surgical technique which has given good outcomes in treating hereditary pancreatitis in children.

全文:

受限制的访问

作者简介

Alina Кislenko

The Russian National Research Medical University named after N.I. Pirogov; Filatov N.F. Children's City Hospital

编辑信件的主要联系方式.
Email: kislenkolina@mail.ru
ORCID iD: 0000-0002-5530-4410

MD

俄罗斯联邦, Moscow; Moscow

Alexandr Razumovskiy

The Russian National Research Medical University named after N.I. Pirogov

Email: 1595105@mail.ru
ORCID iD: 0000-0002-9497-4070
SPIN 代码: 3600-4701

MD, Dr. Sci. (Medicine), Professor

俄罗斯联邦, Moscow

Victoriya Kholostova

The Russian National Research Medical University named after N.I. Pirogov; Filatov N.F. Children's City Hospital

Email: vkholostova@yandex.ru
ORCID iD: 0000-0002-3463-9799

MD, Dr. Sci. (Medicine)

俄罗斯联邦, Moscow; Moscow

参考

  1. Lal A., Lal D.R. Hereditary pancreatitis. Pediatr Surg Int. 2010;26(12):1193-1199. doi: 10.1007/s00383-010-2684-4
  2. Oracz G, Kolodziejczyk E, Sobczynska-Tomaszewska A, et al. The clinical course of hereditary pancreatitis in children: A comprehensive analysis of 41 cases. Pancreatology. 2016;16(4):535-541. doi: 10.1016/j.pan.2016.04.009
  3. Shelton C, Solomon S, LaRusch J, et al. PRSS1-related hereditary pancreatitis. In: GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993. P. 1993-2023.
  4. Drawbridge Ju, Foty R A, Schotz E-M. Malcolm S. Steinberg (1930–2012). Developmental Biology. 2012; 370 (1):1-2. doi: http://dx.doi.org/10.1016/j.ydbio.2012.07.013
  5. Ceppa EP, Pitt HA, Hunter JL, et al. Hereditary pancreatitis: Endoscopic and surgical management. J Gastrointestinal Surg. 2013;17(5):847-857. EDN: DOTPTW doi: 10.1007/s11605-013-2167-8
  6. Belmer SV, Razumovsky AY. Khavkin AI, et al. Diseases of the pancreas in children. Moscow: MEDPRACTICA-M; 2019. 528 р. EDN: NZCBDA
  7. Kumar S, Ooi CY, Werlin S, et al. Risk factors associated with pediatric acute recurrent and chronic pancreatitis: Lessons from INSPPIRE. JAMA Pediatr. 2016;170(6):562-569. doi: 10.1001/jamapediatrics.2015.4955
  8. Witt H, Luck W, Hennies HC, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet. 2000;25(2):213-216. doi: 10.1038/76088
  9. Sultan M, Werlin S, Venkatasubramani N. Genetic prevalence and characteristics in children with recurrent pancreatitis. J Pediatr Gastroenterol Nutr. 2012;54(5):645-650. doi: 10.1097/MPG.0b013e31823f0269
  10. Löhr JM, Dominguez-Munoz E, Rosendahl J, et al.; HaPanEU/UEG Working Group. United European Gastroenterology evidence-based guidelines for the diagnosis and therapy of chronic pancreatitis (HaPanEU). United Eur Gastroenterol J. 2017;5(2):153-199. doi: 10.1177/2050640616684695
  11. Le Maréchal C, Chen JM, Le Gall C, et al. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. Hum Mutat. 2004;23(2):205. doi: 10.1002/humu.9212
  12. Giefer MJ, Lowe ME, Werlin SL, et al. Early-onset acute recurrent and chronic pancreatitis is associated with PRSS1 or CTRC gene mutations. J Pediatr. 2017;(186):95-100. doi: 10.1016/j.jpeds.2017.03.063
  13. Freedman SD, Blanco P, Shea C., Alvarez JG. Mechanisms to explain pancreatic dysfunction in cystic fibrosis. Med Clin North Am. 2000;84(3):657-664. doi: 10.1016/s0025-7125(05)70248-0
  14. Whitcomb DC. Genetic risk factors for pancreatic disorders. Gastroenterology. 2013;144(6):1292-1302. doi: 10.1053/j.gastro.2013.01.069
  15. Witt H, Beer S, Rosendahl J, et al. Variants in CPA1 are strongly associated with early onset chronic pancreatitis. Nature Genetics. 2013;45(10):1216-1220. doi: 10.1038/ng.2730
  16. Whitcomb DC, Gorry C., Preston RA, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet. 1996;(14):141-145. doi: 10.1038/ng1096-141
  17. Silvestri M, Coignac A, Delicque J, et al. Level of pancreatic division and postoperative pancreatic fistula after distal pancreatectomy: A retrospective case-control study of 157 patients with non-pancreatic ductal adenocarcinoma lesions. Int J Surg. 2019;(65):128-133. doi: 10.1016/j.ijsu.2019.03.020
  18. Jimenez RE, Fernandez-Del Castillo C, Rattner DW, et al. Pylorus-preserving pancreaticoduodenectomy in the treatment of chronic pancreatitis. World J Surg. 2003;27(11):1211-1216. EDN: ESRFLH doi: 10.1007/s00268-003-7240-0
  19. Bramis K, Gordon-Weeks AN, Friend PJ, et al. Systematic review of total pancreatectomy and islet autotransplantation for chronic pancreatitis. Br J Surg. 2012;99(6):761-766. doi: 10.1002/bjs.8713

补充文件

附件文件
动作
1. JATS XML
下载
2. Fig. 1. Magnetic resonance imaging of a patient with hereditary pancreatitis: a — enlarged pancreatic head (arrow); b — dilated Virsung duct (arrow).

下载 (104KB)
索引源数据
3. Fig. 2. Outer view of the pancreas: it is reduced in size, with increased density.

下载 (180KB)
索引源数据
4. Fig. 3. Virsung duct opening.

下载 (185KB)
索引源数据
5. Fig. 4. Virsung duct cutting along the gland.

下载 (190KB)
索引源数据
6. Fig. 5. Virsung duct is cut along the entire length.

下载 (181KB)
索引源数据
7. Fig. 6. A posterior part of anastomosis is formed.

下载 (189KB)
索引源数据
8. Fig. 7. An anterior part of anastomosis is formed.

下载 (163KB)
索引源数据
9. Fig. 8. Magnetic resonance imaging of the abdominal cavity organs: dilated Virsung duct because of calculi.

下载 (56KB)
索引源数据
10. Fig. 9. Magnetic resonance imaging of the abdominal cavity organs: dilated and tortuous Virsung duct.

下载 (81KB)
索引源数据
11. Fig. 10. Magnetic resonance imaging of the abdominal cavity organs. Virsung duct is unevenly dilated, pancreatic gland is edematous.

下载 (71KB)
索引源数据

版权所有 © Eco-Vector, 2024

##common.cookie##