Menkes病梗阻性结石并发肾盂破裂1例

IF 0.2 4区医学 Q4 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING

Hong Kong Journal of Radiology Pub Date : 2023-09-04 DOI:10.12809/hkjr2117505

TM Chiu, Kkf Fung, E. Kan

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引用次数: 0

摘要

Menkes病是一种罕见的x连锁遗传性多系统疾病，由于ATP7A基因突变导致铜代谢缺陷患者可表现为神经退行性表现和多发性结缔组织异常我们报告的情况下，一个4岁的男孩，已知有门克斯病，谁提出了输尿管梗阻性结石合并肾盂破裂。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Rupture of Renal Pelvis Secondary to Obstructing Calculus in Menkes Disease: A Case Report

INTRODUCTION Menkes disease is a rare X-linked hereditary multisystem disorder due to a defect in copper metabolism caused by a mutation in the ATP7A gene.1 Patients can present with neurodegenerative manifestations and multiple connective tissue abnormalities.1 We report the case of a 4-year-old boy, known to have Menkes disease, who presented with an obstructive ureteric stone complicated by rupture of the renal pelvis.

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来源期刊

Hong Kong Journal of Radiology RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING-

CiteScore

0.30

自引率

0.00%

发文量