TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review

J Fayard; S Collardeau; Y Bertrand; M-P Cordier; C Malcus; R Dubois; P-Y Mure; G de Saint Basile; T Louazon; B Rohmer; A Lachaux; R Duclaux; N Peretti

doi:10.1016/j.arcped.2018.05.006

TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review

Arch Pediatr. 2018 Jun 16:S0929-693X(18)30112-X. doi: 10.1016/j.arcped.2018.05.006. Online ahead of print.

Authors

J Fayard¹, S Collardeau², Y Bertrand³, M-P Cordier⁴, C Malcus⁵, R Dubois⁶, P-Y Mure⁶, G de Saint Basile⁷, T Louazon¹, B Rohmer¹, A Lachaux⁸, R Duclaux¹, N Peretti⁹

Affiliations

¹ Department of Pediatric Hepatology Gastroenterology and Nutrition, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant de Lyon, 69677 Bron, France.
² Anathomopathology department, Hospices Civils de Lyon, 69677 Bron, France.
³ Hospices Civils de Lyon, IHOP, 69677 Bron, France.
⁴ Department of genetic, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant de Lyon, 69677 Bron, France.
⁵ Immunology laboratory, Hospices Civils de Lyon, HEH, 69677 Bron, France.
⁶ Department of Pediatric Surgery, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant de Lyon, 69677 Bron, France.
⁷ Inserm, unité U1163 Paris, centre d'études des déficits immunitaires, université Paris Descartes-Sorbonne Paris Cité, Paris, hôpital Necker-Enfants-Malades, Assistance publique-Hôpitaux de Paris, 75015 Paris, France.
⁸ Department of Pediatric Hepatology Gastroenterology and Nutrition, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant de Lyon, 69677 Bron, France; Inserm U1060, laboratoire CarMeN, université Claude-Bernard Lyon 1, 69008 Lyon, France.
⁹ Department of Pediatric Hepatology Gastroenterology and Nutrition, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant de Lyon, 69677 Bron, France; Inserm U1060, laboratoire CarMeN, université Claude-Bernard Lyon 1, 69008 Lyon, France. Electronic address: [email protected].

PMID: 29921470
DOI: 10.1016/j.arcped.2018.05.006

Abstract

TTC7A mutations cause multiple neonatal intestinal atresias with early inflammatory bowel disease and severe combined immunodeficiency. There are no treatment protocols for this rare disease. Two new cases are described for which radical early treatment measures - total enterectomy, home parenteral nutrition, immunoglobulin therapy and intravenous antibiotic prophylaxis - have allowed both patients to develop optimally.

Keywords: Graft-versus-host disease (GVHD); Inflammatory bowel disease (IBD); Intestinal atresias; Parenteral nutrition; Severe combined immunodeficiency (SCID); Tetratricopeptide repeat domain 7A (TTC7A).