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一名土耳其新生儿先天性腹泻的罕见病因:簇绒性肠病。

A rare cause of congenital diarrhea in a Turkish newborn: tufting enteropathy.

作者信息

Kahvecioğlu Dilek, Yıldız Duran, Kılıç Atilla, İnce-Alkan Banu, Erdeve Ömer, Kuloğlu Zarife, Atasay Begüm, Ensari Arzu, Yılmaz Resul, Arsan Saadet

机构信息

Division of Neonatology, Department of Pediatrics, Ankara University, Faculty of Medicine, Ankara, Turkey.

出版信息

Turk J Pediatr. 2014 Jul-Aug;56(4):440-3.

PMID:25818968
Abstract

Tufting enteropathy is an autosomal recessive congenital enteropathy presenting with early-onset severe intractable diarrhea. It presents with watery diarrhea that develops in the first days after birth and persists despite bowel rest. Growth is impaired, and most patients require total parenteral nutrition. The histological characteristic of tufting enteropathy is the presence of epithelial tufts. We hereby present a patient who was referred to our neonatal intensive care unit because of chronic diarrhea and diagnosed with tufting enteropathy according to histological examination. To the best of our knowledge, the newborn case presented here is the first one reported from Turkey. As TE is a very rare disease, it should be considered in patients with continuing diarrhea beginning in the first days of life.

摘要

簇绒性肠病是一种常染色体隐性先天性肠病,表现为早发性严重难治性腹泻。其症状为出生后数天内出现水样腹泻,即使肠道休息也持续存在。生长发育受到影响,大多数患者需要全胃肠外营养。簇绒性肠病的组织学特征是存在上皮簇。我们在此报告一名因慢性腹泻转诊至我们新生儿重症监护病房的患者,经组织学检查诊断为簇绒性肠病。据我们所知,此处报告的新生儿病例是土耳其首例。由于簇绒性肠病是一种非常罕见的疾病,对于出生后数天开始持续腹泻的患者应予以考虑。

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引用本文的文献

1
Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms.先天性簇绒性小肠病:生物学、发病机制及原理
J Clin Med. 2020 Dec 23;10(1):19. doi: 10.3390/jcm10010019.
2
Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD.儿科胃肠病理学的新进展:儿童肠道疾病,包括极早发型单基因炎症性肠病。
Virchows Arch. 2018 Jan;472(1):111-123. doi: 10.1007/s00428-017-2197-9. Epub 2017 Jul 17.