Intestinal atresias and intestinal failure in patients with TTC7A mutations

Journal of Pediatric Surgery Case Reports

Jay R. Thiagarajah, MD PhD¹  Jamie Knell, MD²  Gregory Keefe, MD²  Tom Jaksic, MD PhD²  Lissette Jimenez, MD MPH²  Emily Nes, MD²  Katherine Culbreath, MD²  Sam M. Han, MD²  Grace Y. Han, BS²  Alexandra N. Carey, MD²  Sung-Yun Pai, MD³  Priyanka Chugh, MD⁴  Biren P. Modi, MD MPH⁵ 

[1] Congenital Enteropathy Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA;Center for Advanced Intestinal Rehabilitation and Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA;Congenital Enteropathy Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA;Department of Surgery, Boston Medical Center, Boston, MA, USA;Immune Deficiency Cellular Therapy Program, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA;

关键词: Intestinal atresia;    Pyloric atresia;    Severe combined immunodeficiency;    Intestinal failure;    Stem cell transplantation;   

DOI  :  

来源: DOAJ

【 摘 要 】

Mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene are associated with severe intestinal disorders and combined immunodeficiency (CID), with poor long-term survival. This study describes the characteristics and clinical course of six patients with intestinal failure who were found to have biallelic TTC7A mutations, highlighting key management strategies for identifying these patients and improving their survival. Of the six patients included, five had multiple intestinal atresias (83%) and one had congenital enteropathy (17%). Pyloric web or atresia was present in 100% of patients. All patients had low CD3+ T-cell counts on flow cytometry, consistent with CID. Immunologic management consisted of intravenous immunoglobulin and antibiotic prophylaxis, while two patients (33%) underwent stem cell transplantation. All patients were initially dependent on parenteral nutrition, but two (33%) achieved enteral autonomy after undergoing intestinal transplantation. Patients were followed for a median of 7 years (IQR 4.75–9.25), with a long-term survival rate of 67%. The high incidence of pyloric atresia in this case series suggests that the presence of pyloric atresia, especially in the setting of other intestinal disorders, should prompt screening for CID and a genetic evaluation. Recognition of the mutation and involvement of appropriate interdisciplinary care teams are essential for optimizing survival of these complex patients.

【 授权许可】

Unknown