中国首例X连锁铁粒幼细胞贫血伴共济失调病例报告及文献复习

Xiong Shiqiu, Jia Yang, Li Shijun, Huang Peng, Xiong Jie, Mao Dingan, He Qingnan, Liu Liqun

Department of Pediatrics, The Second Xiangya Hospital, Central South University, Changsha, China.

Children's Brain Development and Brain Injury Research Office, The Second Xiangya Hospital, Central South University, Changsha, China.

Front Pediatr. 2021 Jul 20;9:692459. doi: 10.3389/fped.2021.692459. eCollection 2021.

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare X-liked inherited disease, which was linked to the ABCB7 gene mutations. So far, five families have been reported worldwide. We present the first Chinese family of XLSA/A with novel ABCB7 gene mutation (c.2024A > G) and make a retrospective literature review. All affected patients were male. Age of symptom onset was <2 years old. The main symptoms included ataxia, delay in motor development, and mild sideroblastic anemia with obviously increased erythrocyte protoporphyrin. In this case, he had new symptoms that had not been reported in other cases such as epilepsy and cryptorchidism. We also discuss the possible molecular mechanism linking ABCB7 gene mutations to sideroblastic anemia and ataxia.

X连锁铁粒幼细胞贫血伴共济失调（XLSA/A）是一种罕见的X连锁遗传病，与ABCB7基因突变有关。迄今为止，全球已报道了5个家系。我们报道了中国首个携带新型ABCB7基因突变（c.2024A>G）的XLSA/A家系，并进行了回顾性文献复习。所有受累患者均为男性。症状出现年龄<2岁。主要症状包括共济失调、运动发育迟缓以及轻度铁粒幼细胞贫血伴红细胞原卟啉明显升高。该病例有其他病例未报道的新症状，如癫痫和隐睾症。我们还讨论了ABCB7基因突变与铁粒幼细胞贫血和共济失调相关的可能分子机制。