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.

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;:
Authors: Fayard J, Collardeau S, Bertrand Y, Cordier MP, Malcus C, Dubois R, Mure PY, de Saint Basile G, Louazon T, Rohmer B, Lachaux A, Duclaux R, Peretti N
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.
PMID: 29921470 [PubMed - as supplied by publisher]

Source: Archives de Pediatrie - June 16, 2018 Category: Pediatrics Authors: Fayard J, Collardeau S, Bertrand Y, Cordier MP, Malcus C, Dubois R, Mure PY, de Saint Basile G, Louazon T, Rohmer B, Lachaux A, Duclaux R, Peretti N Tags: Arch Pediatr Source Type: research