Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report

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.