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29名土耳其患者患有两种新型内部变异的pyruvate kinase缺乏症

Veysel Gök¹, Göksel Leblebisatan², Dilek Gürlek Gökçebay³

¹Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.

British journal of haematology

|May 29, 2024

概括

由于遗传变异,对酸盐激酶缺乏症 (PKD) 的诊断可能具有挑战性. PK:hexokinase比为诊断这种疾病提供了更高的灵敏度,即使酶水平正常.

科学领域:

生物化学生化学
遗传学是一个遗传学.
血液学血液学血液学

背景情况:

酸盐激酶 (PK) 是厌氧糖解中的关键酶.
酸盐激酶缺乏症 (PKD) 呈现出高度的遗传异质性,已发现超过400种变异.
脊髓炎是慢性非球球细胞血清性贫血的一个原因.

研究的目的:

评估对酸酶缺乏症 (PKD) 的诊断方法.
识别与PKD相关的新型遗传变异.
评估PK:hexokinase比在PKD诊断中的有用性.

主要方法:

来自七个儿科血液学中心的29名基因诊断PKD患者的评估.
对PK酶水平和PK:hexokinase比率的分析.
测序PKLR基因以识别变异.

主要成果:

23名患者中有15名 (65.2%) 呈现低PK水平.
PK:hexokinase比率显示PKD诊断的灵敏度为100%,超过了标准PK酶测定.
在PKLR基因中发现了两种新的内基变异 (c.695-1G>A和c.694+43C>T).

结论:

在患有慢性非球球细胞溶血性贫血的患者中,无论酶水平如何,都应该怀疑PKD.
PK:hexokinase比率是PKD的一个高度敏感的诊断标志物.
全面的PKLR基因测序对于准确的PKD特征和遗传咨询至关重要.

关键词:

在PKD中,PKD是PKD.在PKLR的PKLR.酵素酶是一种酶.血液溶解性贫血是什么意思酸激酶是一种酸激酶.

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