一名患有唐氏综合征并伴有脑血管意外的儿童的原发性膜增生性肾小球肾炎：病例报告。

Primary membranoproliferative glomerulonephritis in a child with down syndrome complicated with CVA: A case report.

作者信息

Alsultan Mohammad Khaled, Bdeir Zeina Nizar, Obeid Ameer, Alsamarrai Omar, Nabil Al Houri Hasan, Hassan Qussai

机构信息

Department of Nephrology, Al Assad and Al Mouwasat University Hospitals, Damascus University, Faculty of Medicine, Damascus, Syria.

Department of Infectious Diseases, Al Assad and Al Mouwasat University Hospitals, Damascus University, Faculty of Medicine, Damascus, Syria.

出版信息

Ann Med Surg (Lond). 2022 Aug 18;81:104441. doi: 10.1016/j.amsu.2022.104441. eCollection 2022 Sep.

DOI:10.1016/j.amsu.2022.104441

PMID:36147086

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9486552/

Abstract

INTRODUCTION

Down syndrome (DS) is a genetic disorder that affects multiple organs but glomerular lesions were reported only in case reports such as focal segmental glomerulosclerosis (FSGS), and Membranoproliferative glomerulonephritis (MPGN).

CASE PRESENTATION

A 14-year-old male child with DS was presented with generalized edema over three months. Laboratory tests revealed nephrotic syndrome (NS) and urinary tract infection (UTI). Renal ultrasound consisted with CKD. Kidney biopsy corresponded with MPGN. Also, all investigations for secondary underlying disorders came back negative suggesting the idiopathic form. Moreover, the status complicated with cerebrovascular accident (CVA), which has not been described in a DS- patient with glomerulonephritis.

DISCUSSION/CONCLUSION: The relationship between DS and the incidence of glomerulonephritis is unclear. we suggest regular monitoring of renal function and urinalysis in different-age patients with Down syndrome, because early detection of renal disorders may prevent or slow down the progression and could be beneficial for increasing survival.

摘要

引言

唐氏综合征（DS）是一种影响多个器官的遗传性疾病，但仅在诸如局灶节段性肾小球硬化（FSGS）和膜增生性肾小球肾炎（MPGN）等病例报告中报道过肾小球病变。

病例介绍

一名14岁患有唐氏综合征的男童出现全身性水肿达三个月。实验室检查显示为肾病综合征（NS）和尿路感染（UTI）。肾脏超声检查符合慢性肾脏病（CKD）。肾脏活检符合MPGN。此外，所有继发性潜在疾病的检查结果均为阴性，提示为特发性形式。此外，该病情并发脑血管意外（CVA），这在患有肾小球肾炎的唐氏综合征患者中尚未有过描述。

讨论/结论：唐氏综合征与肾小球肾炎发病率之间的关系尚不清楚。我们建议对不同年龄段的唐氏综合征患者定期进行肾功能和尿液分析监测，因为早期发现肾脏疾病可能预防或减缓疾病进展，并且可能有助于提高生存率。