The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families

IF 4.3 3区材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC

ACS Applied Electronic Materials Pub Date : 2024-09-09 DOI:10.3389/fnins.2024.1408105

Ruth H. Walker, Mariana Barreto, James R. Bateman, M. Leonor Bustamante, Graham Chiu, Scott Feitell, Beat M. Frey, Patricio Guerra, Sofia Guerrero, Hans H. Jung, Fernando Maldonado, Eduardo Meyer, Marcelo Miranda, Emelie McFarland, Patricia Oates, Gorka Ochoa, Karin Olsson, Martin Paucar, Jonatan Alvarez Proschle, Esther M. Sammler, Monica Troncoso, Rachel Wu-Wallace, Leo Young, Sunitha Vege, Connie M. Westhoff, Adrian Danek

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引用次数: 0

Abstract

XK disease is a very rare, multi-system disease, which can present with a wide spectrum of symptoms. This disorder can also be identified pre-symptomatically with the incidental detection of serological abnormalities when typing erythrocytes in peripheral blood, or on other routine laboratory testing. Increasing awareness of this disorder and improved access to genetic testing are resulting in increasing identification of affected patients and families. Here we provide updates to some previously-reported families and patients and provide additional clinical details. We also report four new cases with a variety of presentations, one of whom had a novel mutation.

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XK 病（麦克劳德综合征）的复杂表现：新观察到的系列病例和以前报告过的家族的最新情况

XK 病是一种非常罕见的多系统疾病，可表现出多种症状。在外周血红细胞分型或其他常规实验室检测中偶然发现血清学异常，也可在症状出现前发现这种疾病。人们对这种疾病的认识不断提高，基因检测的普及也使越来越多的患者和家庭能够发现这种疾病。在此，我们对之前报道过的一些家庭和患者进行了更新，并提供了更多临床细节。我们还报告了四例表现各异的新病例，其中一例有新的基因突变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

ACS Applied Electronic Materials Multiple-

CiteScore

7.20

自引率

4.30%

发文量

567