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Clinical Journal of Gastroenterology

, Volume 12, Issue 6, pp 637–641 | Cite as

A novel pathogenic variant of ATP-binding cassette subfamily B member 4 causing gallstones in a young adult

  • Tetsuya IshizawaEmail author
  • Naohiko Makino
  • Yasuharu Kakizaki
  • Yoshiaki Ando
  • Akiko Matsuda
  • Toshikazu Kobayashi
  • Chisaki Ikeda
  • Shinpei Sugahara
  • Michihiko Tsunoda
  • Hidenori Sato
  • Ryoko Murakami
  • Yoshiyuki Ueno
Case Report
  • 72 Downloads

Abstract

The low phospholipid-associated cholelithiasis (LPAC) syndrome was reported in European adults with cholelithiasis and a mutation of the ATP-binding cassette subfamily B member 4 (ABCB4). The ABCB4 encodes multidrug resistance 3, which is a phospholipid translocator. Reduced phospholipid transport can lead to the formation of biliary cholesterol stones. Here, we describe a 31-year-old Japanese man diagnosed with recurrent biliary colic. Although he recovered quickly after endoscopic treatment for the most recent presentation, he had a family history of similar problems. His mother had required endoscopic treatment for choledocholithiasis and his maternal aunt had died at age 29 years because of liver failure (etiology unknown). We, therefore, performed genetic analysis, which revealed a heterozygous ABCB4C717S. LPAC syndrome was diagnosed and the patient has received ursodeoxycholic acid for 2 years with no recurrence. The same variant was identified in the patient’s mother, who was subsequently found to have a left intrahepatic calculus requiring left-sided lobectomy. She has received ursodeoxycholic acid for 1 year with no recurrence. ABCB4C717S is a novel pathogenic variant, and this is the first patient diagnosed with LPAC syndrome in Japan. We should consider LPAC syndrome in young adults with recurrent cholesterol gallstones to ensure early therapy.

Keywords

LPAC ABCB4 MDR3 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no competing interests.

Human/animal rights

All procedures followed have been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

Informed consent

Informed consent was obtained from all patients for being included in the study.

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Copyright information

© Japanese Society of Gastroenterology 2019

Authors and Affiliations

  • Tetsuya Ishizawa
    • 1
    Email author
  • Naohiko Makino
    • 1
  • Yasuharu Kakizaki
    • 1
  • Yoshiaki Ando
    • 1
  • Akiko Matsuda
    • 1
  • Toshikazu Kobayashi
    • 1
  • Chisaki Ikeda
    • 1
  • Shinpei Sugahara
    • 1
  • Michihiko Tsunoda
    • 1
  • Hidenori Sato
    • 2
  • Ryoko Murakami
    • 2
  • Yoshiyuki Ueno
    • 1
  1. 1.Department of Gastroenterology, Faculty of MedicineYamagata UniversityYamagata-shiJapan
  2. 2.Genome Informatics Unit, Institute for Promotion of Medical Science Research, Faculty of MedicineYamagata UniversityYamagata-shiJapan

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