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以直肠脱垂为表现的非家族性幼年性息肉病综合征:一种罕见疾病的不寻常表现

Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease.

作者信息

Almas Talal, Hussain Salman, Alsufyani Reema, Alaeddin Hasan, Khan Muhammad Kashif

机构信息

Internal Medicine, Royal College of Surgeons in Ireland, Dublin, IRL.

Surgical Oncology, Federal Government Poly Clinic (Post Graduate Medical Institute), Islamabad, PAK.

出版信息

Cureus. 2020 Oct 28;12(10):e11222. doi: 10.7759/cureus.11222.

DOI:10.7759/cureus.11222
PMID:33269150
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7704158/
Abstract

Juvenile polyposis syndrome is a rare inherited disorder that afflicts the gastrointestinal system. It usually occurs as a result of gene mutations; to date, several gene mutations, including those involving the bone morphogenetic protein receptor type IA (BMPR1A) gene, have been implicated in heralding the onset of the ailment. The disease is characterized by the infiltration of the gastrointestinal system with numerous hamartomas, which are predominantly benign. However, if left untreated, the hamartomas can undergo malignant transformations. Timely diagnosis and prompt surgical intervention are, therefore, imperative in portending favorable disease outcomes. We hereby delineate the case of a patient who presented with rectal prolapse and bleeding per rectum. Further diagnostic workup revealed the presence of polyps throughout the colon and the rectum, thereby insinuating a diagnosis of non-familial juvenile polyposis syndrome. The patient was managed through open surgery and continues to do well with no indications of disease recurrence.

摘要

青少年息肉病综合征是一种罕见的遗传性疾病,会累及胃肠道系统。它通常是由基因突变引起的;迄今为止,包括涉及骨形态发生蛋白受体IA型(BMPR1A)基因的突变在内,已有几种基因突变被认为与该疾病的发病有关。该疾病的特征是胃肠道系统出现大量错构瘤,这些错构瘤大多是良性的。然而,如果不进行治疗,错构瘤可能会发生恶性转化。因此,及时诊断和迅速的手术干预对于预示良好的疾病预后至关重要。我们在此描述一例出现直肠脱垂和直肠出血的患者病例。进一步的诊断检查发现整个结肠和直肠都有息肉,从而暗示诊断为非家族性青少年息肉病综合征。该患者通过开放手术进行治疗,目前情况良好,没有疾病复发的迹象。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2207/7704158/86f7bc53ba0f/cureus-0012-00000011222-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2207/7704158/f3f60fb8ed29/cureus-0012-00000011222-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2207/7704158/86f7bc53ba0f/cureus-0012-00000011222-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2207/7704158/f3f60fb8ed29/cureus-0012-00000011222-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2207/7704158/86f7bc53ba0f/cureus-0012-00000011222-i02.jpg

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Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease.以直肠脱垂为表现的非家族性幼年性息肉病综合征:一种罕见疾病的不寻常表现
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本文引用的文献

1
A Rare Case of Juvenile Polyposis Syndrome in a 13-year-old Girl from a Rural Area.一名来自农村地区的13岁女孩患幼年性息肉病综合征的罕见病例。
Cureus. 2019 Apr 30;11(4):e4567. doi: 10.7759/cureus.4567.
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Juvenile polyposis syndrome: A case report.青少年息肉病综合征:一例报告。
Int J Surg Case Rep. 2019;59:73-75. doi: 10.1016/j.ijscr.2019.04.041. Epub 2019 May 3.
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Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene.伴有SMAD 4基因第5外显子新突变的非家族性幼年息肉病综合征
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Colonic surgery in patients with juvenile polyposis syndrome: a case series.青少年息肉病综合征患者的结肠手术:病例系列
Dis Colon Rectum. 2005 Jan;48(1):49-55; discussion 55-6. doi: 10.1007/s10350-004-0749-y.
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