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一名患有常染色体隐性多囊肾病、脾肾分流术和先天性肝纤维化的青少年患者:病例报告。

A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report.

作者信息

Scarioti Vinicius Danieli, Oliveira Lucia Tabim de, Mattiello Anye Caroline, Gomes Nayara Dos Santos

机构信息

Hospital São José, Departamento de Clínica Médica, Jaraguá do Sul, SC, Brasil.

Hospital São José, Departamento de Nefrologia, Jaraguá do Sul, SC, Brasil.

出版信息

J Bras Nefrol. 2019 Apr-Jun;41(2):300-303. doi: 10.1590/2175-8239-jbn-2018-0081. Epub 2018 Sep 6.

Abstract

A 16-year-old female patient previously diagnosed with autosomal recessive polycystic kidney disease (ARPKD) presented with acute bilateral pneumonia, upper gastrointestinal bleeding caused by ruptured esophageal varices, ascites, and lower limb edema. She required intensive care and an endoscopic procedure to treat the gastrointestinal bleeding. The analysis of the differential diagnosis for chronic liver disease indicated she had a spontaneous splenorenal shunt. Ultrasound-guided biopsy revealed the patient had cirrhosis, as characteristically seen in individuals with ARPKD. She had no symptoms at discharge and was referred for review for a combined transplant.

摘要

一名先前被诊断患有常染色体隐性多囊肾病(ARPKD)的16岁女性患者,出现了急性双侧肺炎、食管静脉曲张破裂导致的上消化道出血、腹水和下肢水肿。她需要重症监护以及进行内镜手术来治疗胃肠道出血。对慢性肝病的鉴别诊断分析表明她存在自发性脾肾分流。超声引导下活检显示该患者患有肝硬化,这是ARPKD患者的典型表现。她出院时无症状,并被转诊接受联合移植评估。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f9d/6699426/f2921f77f9c0/2175-8239-jbn-2018-0081-gf01.jpg

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