遗传性出血性毛细血管扩张症、肝脏疾病与血清睾酮升高（奥斯勒-韦伯-伦杜综合征）：一例报告

Hereditary hemorrhagic telangiectasia, liver disease and elevated serum testosterone (Osler-Weber-Rendu syndrome): a case report.

作者信息

Dissanayake R, Wickramarathne K P K Y M D S, Seneviratne S N, Perera S N, Fernando M U J, Wickramasinghe V P

机构信息

Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.

出版信息

BMC Res Notes. 2017 Jan 23;10(1):58. doi: 10.1186/s13104-017-2397-z.

DOI:10.1186/s13104-017-2397-z

PMID:28115008

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5260067/

Abstract

BACKGROUND

A Sri Lankan girl with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is described.

CASE PRESENTATION

She presented with recurrent spontaneous epistaxis, pulmonary arterio venous malformation and oral telangiectasia. A diagnosis of Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) was made based on the presence of three Curacao criteria (out of four). Evaluations of her jaundice revealed chronic parenchymal liver disease with multiple nodules in the liver with early portal hypertension. She had a muscular build, with elevated serum testosterone but low serum dehydroepiandrosterone sulphate levels. This could be attributed to impaired sulfation of dehydroepiandrosterone due to portocaval shunting of blood, leading to hyperandrogenemia.

CONCLUSIONS

Hyperandorogenemia due impaired sulfation of dehydroepiandrosterone as a result of portocaval shunting is seen in Hereditary haemorrhagic telangiectasia.

摘要

背景

本文描述了一名患有遗传性出血性毛细血管扩张症（奥斯勒-韦伯-伦杜综合征）的斯里兰卡女孩。

病例介绍

她表现为反复自发性鼻出血、肺动静脉畸形和口腔毛细血管扩张。根据四项中的三项库拉索标准，诊断为遗传性出血性毛细血管扩张症（奥斯勒-韦伯-伦杜综合征）。对她黄疸的评估显示为慢性实质性肝病，肝脏有多个结节并伴有早期门静脉高压。她体格健壮，血清睾酮升高但血清硫酸脱氢表雄酮水平降低。这可能归因于由于门腔分流导致硫酸脱氢表雄酮硫酸化受损，从而导致高雄激素血症。