Abstracts Interdisciplinary

• DOI: 10.1515/iss-2024-2007
• Publication Date: 2024-04-08T07:51:10Z
• Authors: Hans Christian Sc...; Julia Imhoff; Konrad Reinshagen; Christian Tomuschat; Stephanie T. Jünger; Maximilian I. Ruge; Daniel Rueß; Jürgen A. Hampl; Roland Goldbrunner; Stefan Grau; Anna-Katharina Me...; Robin Gutsche; Enrico Budzejko; Christina Hamisch; Martin Köcher; Christian Nelles; Philipp Lohmann
• Keywords: Pathogenesis; Genetic disorder

Background:TTC7A-deficiency is a rare hereditary condition characterized by combined immunodeficiency with multiple intestinal atresias presenting in heterogenous degrees of severity [1] and drawn back to consanguinity [2].The genetic disorder leads disrupted inverse construction the apicobasal polarity enterocytes as shown organoids, derived from TTC7A-patients [3].The defect also associated very early onset inflammatory bowel disease [4].Immunodeficiency can be explained inappropriate activation Rho-kinase impairment actin cytoskeleton dynamic, resulting modified proliferation, adhesion, migratory capacities lymphocytes [5].The prognosis fatal approximately two thirds cases treatment based on palliative concepts [6, 7].Treatment options are limited, e.g., transplantation, patients atresia predisposed develop severe Graft vs. Host [8].Therefore, unravelling new signaling pathways pathogenesis great importance optimize use remaining therapeutic options.In vitro pharmacological inhibition has effective objective this case report highlight difficulties TTC7A-deficiency review recent understanding pathogenesis. Materials methods:A male patient prenatally suspected underwent comprehensive assessment.The interdisciplinary evaluation included departments human genetics, immunology, cardiology, neurology, radiology, pathology, neonatal intensive care medicine, pediatric surgery at University Medical Center Hamburg-Eppendorf.Literature was reviewed regarding opportunities TTC7A-deficiency. Results:The study involved neonate prepartal suspicion atresia, singular gastric bubble an otherwise airless abdomen.Genomic analysis confirmed homozygous (Q82.8Combined Immunodeficiency-Enteropathy Spectrum).Born spontaneously 37+2 weeks, he immediately admitted unit.Both sonographic Xray examinations corroborated presence mostly abdomen.Following his birth, received involving tube placement total parenteral nutrition.Cerebral sonography showed no abnormalities, but echocardiography revealed narrow aortic arch, patent foramen ovale, ductus arteriosus.Immunological indicated cytotoxic T-cell deficiency, reduced memory B-cells, disproportionate reduction regulatory T-cells during differentiation.Surgical intervention performed second day life goal restoring continuity.An exploratory laparotomy uncovered atresias, totaling > 30, which pyloric duodenal jejunal ileal colonic atresia.Surgical procedures pylorotomy duodeno-jejunostomy, jejuno-jejunal bypass, Meckel's diverticulum resection, creation descendostomy.Histological examination changes, mucosal edema, hemorrhages, dysplasia or malignancy.Although distension improved postoperatively, still drained significant amounts, there lack peristalsis.Consequently, 16th life, performed, scarred gastroduodenostomy dilatation, pylorus re-bypass anastomosis, re-anastomosis via jejuno-jejunostomy, double-barreled jejunostoma.