Association between Crohn’s disease and AarF domain-containing kinase 4 glomerulopathy

  • Toshihiko KakiuchiEmail author
  • Yasufumi Ohtsuka
  • Tadashi Sato
  • Aiko Nakayama
  • Kumiko Jinnouchi
  • Masafumi Oka
  • Muneaki Matsuo
Case Report


Coenzyme Q10 deficiency causing gastrointestinal symptoms has not been reported. At least 15 genes are involved in CoQ10 biosynthesis, and one of the genes is AarF domain-containing kinase 4 (ADCK4). This case report first showed a patient who presented with Crohn’s disease (CD) combined with ADCK4 glomerulopathy (ADCK4-GN). After approximately 2 years of infliximab treatment for CD, this patient has remained in clinical remission with no adverse effects. Moreover, two important findings were obtained: first, individuals with ADCK4-GN may present with complications, such as CD, which is a gastrointestinal disease, and infliximab may be effective for CD associated with ADCK4-GN. Second, infliximab may also be effective and safe for individuals with CD who are undergoing peritoneal dialysis. Thus, the results of the present study may be used in managing patients with such condition, and as a result, better clinical outcomes will be obtained.


AarF domain-containing kinase 4 glomerulopathy Crohn’s disease Infliximab Peritoneal dialysis 



The authors would like to thank the patient’s family for consenting and allowing them to write and publish this case report.

Author contributions

As the lead author, TK was involved with all stage of patient management and wrote the manuscript. YO, TS, AN, KJ and MO performed the treatment. MM collaborated as the reviewer. All authors read and approved the final manuscript.


No financial supports.

Compliance with ethical standards

Conflict of interest

Kakiuchi T, Ohtsuka Y, Sato T, Nakayama A, Jinnouchi K, Oka M and Matsuo M declare that they no conflict of interest.

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.


  1. 1.
    Doimo M, Desbats MA, Cerqua C, et al. Genetics of coenzyme q10 deficiency. Mol Syndromol. 2014;5:156–62.CrossRefGoogle Scholar
  2. 2.
    Desbats MA, Lunardi G, Doimo M, et al. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. J Inherit Metab Dis. 2015;38:145–56.CrossRefGoogle Scholar
  3. 3.
    Vazquez Fonseca L, Doimo M, Calderan C, et al. Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function. Hum Mutat. 2018;39:406–14.CrossRefGoogle Scholar
  4. 4.
    Yang J, Yang Y, Hu Z. A novel ADCK4 mutation in a Chinese family with ADCK4-associated glomerulopathy. Biochem Biophys Res Commun. 2018;506:444–9.CrossRefGoogle Scholar
  5. 5.
    Levine A, Koletzko S, Turner D, et al. ESPGHAN revised Porto criteria for the diagnosis of inflammatory bowel disease in children and adolescents. J Pediatr Gastroenterol Nutr. 2014;58:795–806.Google Scholar
  6. 6.
    Ewees MG, Messsiha BA, Abo-Safi AA, et al. Is coenzyme Q10 effective in protection against ulcerative colitis? An experimental study in rats. Biol Pharm Bull. 2016;39:1159–66.CrossRefGoogle Scholar
  7. 7.
    Niklowitz P, Doring F, Paulussen M, et al. Determination of coenzyme Q10 tissue status via high-performance liquid chromatography with electrochemical detection in swine tissue (Sus scrofa domestica). Anal Biochem. 2013;437:88–94.CrossRefGoogle Scholar
  8. 8.
    Kamzalov S, Sumien N, Forester MJ, et al. Coenzyme Q intake elevates the mitochondrial and tissue levels of Coenzyme Q and alpha-tocopherol in young mice. J Nutr. 2003;1333:3175–80.CrossRefGoogle Scholar
  9. 9.
    Restivo NL, Srivastava MD, Schafer IA, et al. Mitochondrial dysfunction in a patient with crohn disease: possible role in pathogenesis. J Pediatr Gastroenterol Nutr. 2004;38:534–8.CrossRefGoogle Scholar
  10. 10.
    Chiba M, Tsuda S, Tsuji T, et al. Crohn’s disease successfully treated with infliximab in a patient receiving hemodialysis: case report and review of the literature. Medicine. 2014;93:1–4.CrossRefGoogle Scholar
  11. 11.
    Kume K, Yamasaki M, Yoshikawa I, et al. Infliximab treatment in a patient with Crohn’s disease on haemodialysis. Colorectal Dis. 2011;13:341.CrossRefGoogle Scholar

Copyright information

© Japanese Society of Gastroenterology 2019

Authors and Affiliations

  1. 1.Department of Pediatrics, Faculty of MedicineSaga UniversitySaga-shiJapan
  2. 2.Department of PediatricsUreshino Medical CenterUreshino-shiJapan

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