Pancreatitis associated with SPINK1 mutation and pancreaticobiliary maljunction

被引:0
|
作者
Kulpreeya, Sirichamratsakul [1 ]
Wison, Laochareonsuk [1 ]
Piyawan, Chiengkriwate [1 ]
Surasak, Sangkhathat [1 ]
机构
[1] Prince Songkla Univ, Dept Surg, Pediat Surg Unit, Hat Yai 90110, Songkhla, Thailand
关键词
Chronic pancreatitis; Pancreaticobiliary maljunction; SPINK1; gene; CHILDREN;
D O I
10.1016/j.epsc.2019.101376
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Chronic pancreatitis (CP) in childhood is a rare condition and its etiology varies with mainly associated with genetic abnormalities, autoimmune pancreatitis, and obstruction. The authors describe a 6-year-old girl presented with abdominal pain and diagnosed as CP with an infected peripancreatic fluid collections (peri-PFC), and found a pancreaticobiliary maljunction (PBM) together with a SPINK 1 mutation at N34S codon. This combination of an anatomical obstruction and genetic mutation should be aware, in early childhood presented with pancreatitis.
引用
收藏
页数:4
相关论文
共 50 条
  • [11] SPINK1 gene mutations and pancreatitis in Japan
    Shimosegawa, Tooru
    Kume, Kiyoshi
    Masamune, Atsushi
    JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2006, 21 : S47 - S51
  • [12] The N34S mutation of the SPINK1 gene and alcoholic chronic pancreatitis
    Cichoz-Lach, Halina
    Michalak, Malgorzata
    Lis, Emilia
    Wojcierowski, Jacek
    Kowalik, Agnieszka
    Slomka, Maria
    Korolczuk, Agnieszka
    POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE, 2012, 122 (06): : 277 - 283
  • [13] Mutation Analysis of SPINK1 and CFTR Gene in Korean Patients with Alcoholic Chronic Pancreatitis
    Kwang Hyuck Lee
    Ji Kon Ryu
    Won Jae Yoon
    Jun Kyu Lee
    Yong-tae Kim
    Yong Bum Yoon
    Digestive Diseases and Sciences, 2005, 50 : 1852 - 1856
  • [14] A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations
    Peter Felderbauer
    Peter Hoffmann
    Henrik Einwächter
    Kerem Bulut
    Nikolaus Ansorge
    Frank Schmitz
    Wolfgang E Schmidt
    BMC Gastroenterology, 3
  • [15] A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in individuals with heterozygous SPINK1 mutations
    Felderbauer, P
    Ansorge, N
    Bulut, K
    Einwaechter, H
    Schrader, H
    Schmitz, F
    Schmidt, WE
    Hoffmann, P
    GASTROENTEROLOGY, 2003, 124 (04) : A583 - A584
  • [16] Mutation analysis of SPINK1 and CFTR gene in korean patients with alcoholic chronic pancreatitis
    Lee, KH
    Ryu, JK
    Yoon, WJ
    Lee, JK
    Kim, YT
    Yoon, YB
    DIGESTIVE DISEASES AND SCIENCES, 2005, 50 (10) : 1852 - 1856
  • [17] Progression from acute to chronic pancreatitis associated with CFTR and SPINK1 mutations
    Dike, Chinenye R.
    Kao, Simon C.
    Uc, Aliye
    PANCREATOLOGY, 2020, 20 (05) : 1019 - 1020
  • [18] SPINK1 Gene is Significantly Associated With Pancreatitis A Comprehensive Meta-Analysis
    Liu, Jie
    Lu, Shun-yuan
    Wang, Yan-gui
    Wei, Zhi-yun
    Zhang, Hong-xin
    PANCREAS, 2017, 46 (10) : 1373 - 1380
  • [19] SPINK1 Mutation in Idiopathic Chronic Pancreatitis: How Pertinent Is It in Coastal Eastern India?
    Jena, Subhra S.
    Pati, Girish K.
    Uthansingh, Kanishka
    Venkatesh, G. Vybhav
    Mallick, Pradeep
    Behera, Manas
    Narayan, Jimmy
    Mishra, Debakanta
    Agarwal, Shobhit
    Sahu, Manoj K.
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2021, 13 (04)
  • [20] The SPINK1 N34S variant is associated with acute pancreatitis
    Bagul, Anil
    Pushpakom, Sunil
    Balachander, Srinivasan
    Newman, William G.
    Siriwardena, Ajith
    EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY, 2009, 21 (04) : 395 - 395