Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report
BackgroundEnterokinase 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 presentationA 2-month-old fema...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1484208/full |
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| author | Yunxi Li Ruijuan Li Yanyan Pan Weiran Zhou Xingcui Wang Linlin Dong Xuemei Liu Hongxia Zhang |
| author_facet | Yunxi Li Ruijuan Li Yanyan Pan Weiran Zhou Xingcui Wang Linlin Dong Xuemei Liu Hongxia Zhang |
| author_sort | Yunxi Li |
| collection | DOAJ |
| description | BackgroundEnterokinase 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 presentationA 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.ConclusionHerein, 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. |
| format | Article |
| id | doaj-art-0db9e48efeb44df5aaf1bf7c8229c597 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-0db9e48efeb44df5aaf1bf7c8229c5972025-01-29T06:46:05ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-01-011310.3389/fped.2025.14842081484208Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case reportYunxi LiRuijuan LiYanyan PanWeiran ZhouXingcui WangLinlin DongXuemei LiuHongxia ZhangBackgroundEnterokinase 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 presentationA 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.ConclusionHerein, 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.https://www.frontiersin.org/articles/10.3389/fped.2025.1484208/fullenterokinase deficiencyTMPRSS15genechildrencase report |
| spellingShingle | Yunxi Li Ruijuan Li Yanyan Pan Weiran Zhou Xingcui Wang Linlin Dong Xuemei Liu Hongxia Zhang Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report Frontiers in Pediatrics enterokinase deficiency TMPRSS15 gene children case report |
| title | Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report |
| title_full | Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report |
| title_fullStr | Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report |
| title_full_unstemmed | Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report |
| title_short | Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report |
| title_sort | enterokinase deficiency associated with novel tmprss15 gene mutations a case report |
| topic | enterokinase deficiency TMPRSS15 gene children case report |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1484208/full |
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