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在一个一岁的男孩中一步一步地诊断双重问题OBAIRH和DMD

Olga Shchagina¹, Vera Kurilova², Elena Zinina¹

¹Research Centre for Medical Genetics, Moscow 115522, Russia.

International journal of molecular sciences

|August 12, 2023

概括

本案例研究详细介绍了一名患有两种罕见遗传疾病的男孩:肥胖,上腺功能缺陷和红发综合征 (OBAIRH) 和杜申肌肉衰竭 (DMD). 基因分析发现了OBAIRH的POMC基因变异,以及杜申肌肉发育不良症的DMD基因缺失.

科学领域:

医学遗传学医学遗传学
儿科内分泌学儿科内分泌学
神经肌肉疾病神经肌肉疾病

背景情况:

罕见遗传性疾病的同时发生,会给诊断和管理带来挑战.
肥胖,上腺功能衰竭和红发综合征 (OBAIRH) 和杜申肌肉衰竭 (DMD) 是个别罕见的疾病.
早期诊断对于管理OBAIRH和DMD至关重要.

研究的目的:

报告一个独特的儿科病人的病例,诊断出患有OBAIRH和DMD.
描述这个患者OBAIRH和DMD的遗传基础.
突出综合基因评估在复杂的儿科病例的重要性.

主要方法:

临床评估包括家族病史和种族.
生物化学分析显示了转氨酶和肌酸激酶 (CK) 水平的升高.
分子遗传测试用于识别致病基因变异和缺失.

主要成果:

在POMC基因 (NM_001035256.3) 中的一种致病性同卵性变异证实了OBAIRH的诊断:c.-71+1G>A.
通过DMD基因 (NM_004006.3) 中的38-45外显子的新删除证实了DMD的诊断.
这两种罕见的疾病都是在患者生命的第一年被诊断出来的.

结论:

这个案例说明了OBAIRH和DMD在一个病人身上同时发生的情况.
在POMC和DMD的遗传变异被确定为OBAIRH和DMD的因果因素,分别.
强调需要对患有复杂表型的儿科患者进行彻底的遗传调查.

关键词:

在 DMD DMD 里面,你会发现这就是OBAIRH.在POMC中,POMC是POMC.这是双重麻烦.

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