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
来源：
JOURNAL OF PEDIATRIC SURGERY CASE REPORTS | 2020年 / 53卷
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
  • [21] Clinical interpretation of SPINK1 and CTRC variants in pancreatitis
    Girodon, Emmanuelle
    Rebours, Vinciane
    Chen, Jian Min
    Pagin, Adrien
    Levy, Philippe
    Ferec, Claude
    Bienvenu, Thierry
    PANCREATOLOGY, 2020, 20 (07) : 1354 - 1367
  • [22] The SPINK1 N34S variant is associated with acute pancreatitis
    O'Reilly, Derek A.
    Witt, Heiko
    Rahman, Sakhawat H.
    Schulz, Hans-Ulrich
    Sargen, Kevin
    Kage, Andreas
    Cartmell, Mark T.
    Landt, Fert
    Larvin, Michael
    Demaine, Andrew G.
    McMahon, Michael J.
    Becker, Michael
    Kingsnorth, Andrew N.
    EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY, 2008, 20 (08) : 726 - 731
  • [23] SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh -: A preliminary report
    Rossi, L
    Pfützer, RH
    Parvin, S
    Ali, L
    Sattar, S
    Kahn, AKA
    Gyr, N
    Whitcomb, DC
    PANCREATOLOGY, 2001, 1 (03) : 242 - 245
  • [24] Mutations of the SPINK1 gene and their relation to chronic pancreatitis
    Keim, V
    PANCREATOLOGY, 2005, 5 (4-5) : 311 - 311
  • [25] Susceptibility to pancreatitis related to PSTI/SPINK1 expression
    Liddle, RA
    GASTROENTEROLOGY CLINICS OF NORTH AMERICA, 2004, 33 (04) : 807 - +
  • [26] Erratum to: 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, 4
  • [27] Metastatic pancreatic adenocarcinoma associated with chronic calcific pancreatitis and a heterozygous SPINK1 N34S mutation
    Moran, Robert A.
    Klapheke, Robert
    Jalaly, Niloofar Y.
    Makary, Martin A.
    Hirose, Kenzo
    Goggins, Michael
    Wood, Laura
    Laheru, Daniel A.
    Lennon, Anne Marie
    Khashab, Mouen A.
    Singh, Vikesh K.
    PANCREATOLOGY, 2016, 16 (05) : 869 - 872
  • [28] Role of intrapancreatic SPINK1/Spink3 expression in the development of pancreatitis
    Ohmuraya, Masaki
    Sugano, Aki
    Hirota, Masahiko
    Takaoka, Yutaka
    Yamamura, Ken-ichi
    FRONTIERS IN PHYSIOLOGY, 2012, 3
  • [29] Gallbladder carcinoma associated with pancreaticobiliary maljunction presenting as severe acute pancreatitis
    Terumi Kamisawa
    Naoto Egawa
    Kouji Tsuruta
    Atsutake Okamoto
    Journal of Gastroenterology, 2005, 40 : 659 - 660
  • [30] Frequency of SPINK1 N34S mutation in acute and recurrent acute pancreatitis
    Gupta, Ankur
    Rai, Praveer
    Sharma, Anjali
    Aggarwal, Rakesh
    JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2013, 28 : 16 - 16
12345