Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation · 2020
Outcome of Children With Intestinal Failure Due to Waardenburg Syndrome From an Intestinal Transplant Center: A Case Series.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Cagan Appak Yeliz, Tinastepe Tuba, Aksoy Betul, Turhan Soysal, Tugmen Cem, Sert Ismail, Baran Masallah
Аннотация
Waardenburg syndrome is a genetic disease char-acterized by hearing loss and pigmentation abnor-malities. Waardenburg syndrome type 4 is very rare, and children with Waardenburg syndrome type 4 present with intestinal aganglionosis. The associated findings and severity of Waardenburg syndrome type 4 may also differ significantly between cases. Intestinal insufficiency is probable and creates difficulties in terms of treatment; intestinal transplant may be required. In this case report, we present 4 cases of patients with Waardenburg syndrome who have intestinal issues, 2 of whom underwent small bowel transplant. Appropriate surgical and nutritional management should be provided for patients with Waardenburg syndrome type 4 who have gastro-intestinal manifestations.