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CASE REPORT article

Front. Pediatr.
Sec. Pediatric Gastroenterology, Hepatology and Nutrition
Volume 13 - 2025 | doi: 10.3389/fped.2025.1484208

Enterokinase Deficiency Associated with Novel TMPRSS15 Gene Mutations: A Case Report

Provisionally accepted
Yunxi Li Yunxi Li Ruijuan Li Ruijuan Li Hongxia Zhang Hongxia Zhang *Yanyan Pan Yanyan Pan Weiran Zhou Weiran Zhou Xingcui Wang Xingcui Wang Linlin Dong Linlin Dong Xuemei Liu Xuemei Liu
  • Children's Hospital Affiliated to Shandong University, Ji nan, China

The final, formatted version of the article will be published soon.

    Background: Enterokinase deficiency (EKD,OMIM #226200) is a rare autosomal recessive genetic disorder caused by mutations in transmembrane protease serine 15 (TMPRSS15). Herein, we report a case of EKD in a patient with novel compound heterozygous TMPRSS15 mutations. Case presentation: A 2-month-old female infant presented with chronic diarrhea, vomiting, pallor, general edema, skin lesions, and a failure to gain weight. Further examination revealed anemia, hypoalbuminemia, and multiorgan damage. Whole-exome sequencing further revealed two novel heterozygous variants of TMPRSS15: c.2611C>T (p.Arg871Ter) and c.1584_1585insCTTT (p.Glu529LeufsTer2). The clinical symptoms dramatically improved following pancreatic enzyme replacement. During a one-year follow-up, the patient showed a normal rate of physical development, with no recurrence of anemia, hypoproteinemia, coagulopathy or skin lesions. Conclusion: Herein, we presented a clinical case of EKD with two novel compound heterozygous mutations in TMPRSS15 who achieved dramatic symptom improvements following pancreatic enzyme supplementation. This case enriches the genotypic spectrum of EKD and provides a reference for the diagnosis and treatment of similar cases. This case suggests that if zymogen activation testing is not possible, genetic analysis may be an effective tool to facilitate early diagnosis. Further, early pancreatic enzyme supplementation is a clinical strategy which can achieve satisfactory outcomes.

    Keywords: Enterokinase deficiency, TMPRSS15, gene, Children, case report

    Received: 02 Oct 2024; Accepted: 13 Jan 2025.

    Copyright: © 2025 Li, Li, Zhang, Pan, Zhou, Wang, Dong and Liu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Hongxia Zhang, Children's Hospital Affiliated to Shandong University, Ji nan, China

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