时间标签：数据日期 2026-11-05 · 生成时间 2026-11-05 05:30（Asia/Shanghai）｜ 检索窗口 PubMed edat 2026/11/02 – 2026/11/06 ｜ 情报发生日期 2026-11-05
研究问题
To further clarify whether this variant represents a population-specific mutation or a global hotspot, we compared our findings with those of a previously reported international cohort describeded by Göde et al. [6].
方法
Clinical manifestations include refractory epilepsy, abnormal muscle tone, feeding difficulties, and progressive neurodegeneration [4], with some patients exhibiting lens displacement [5].；Accordingly, this retrospective study analyzed the clinical data, ancillary test results, and genetic mutation characteristics of neonates diagnosed with ISOD in southeastern China.；Furthermore, by a review of the relevant domestic and international literature, we have systematically summarized the mutation spectrum and core phenotypic features of SUOX in a Chinese population with ISOD.MethodsStudy populationA retrospective analysis was conducted using clinical data from seven newborns with genetically confirmed ISOD from southeastern China between November 2018 and March 2025.
核心结论
However, with the increasing implementation of genetic diagnoses, reports from China have demonstrated a marked upward trend in ISOD incidence in recent years, suggesting that the disease may be more prevalent than previously recognized in certain populations.；Cranial imaging (Fig. 1) demonstrated varying degrees of abnormalities: symmetrical abnormal signals in both cerebral hemispheres or basal ganglia in five cases; ventricular enlargement or hematoma in two cases; corpus callosum agenesis with interhemispheric cyst formation in one case; frontal subdural hemorrhage in one case; and cerebral hemisphere swelling with patchy hypodensity in one case.；Our data suggest that lens dislocation may not be apparent or universally present during the neonatal period, potentially limiting its value as an early diagnostic indicator.
局限
However, with the increasing implementation of genetic diagnoses, reports from China have demonstrated a marked upward trend in ISOD incidence in recent years, suggesting that the disease may be more prevalent than previously recognized in certain populations.；Publication bias, reporting bias, and selection bias cannot be excluded, and the findings should therefore be interpreted with caution.Statistical analysisAll data were analyzed using the SPSS software (version 26.0).；All surviving patients exhibited refractory epilepsy and severe developmental delays (Table 3).DiscussionISOD is a rare genetic metabolic disorder that warrants attention owing to its high mortality and disability rates, as well as challenges in accurate clinical diagnosis.
对本项目的价值
中等价值：属「衰老机制与老年临床」方向；其他衰老相关栏目可用作本项目文献库与综述素材。 ｜ 价值分 2.6/5（★★★☆☆）
全文来源
PubMed PMC JATS（正文 34,104 字符，题名指纹 0.95，已过 PubMed PMCID 官方关联 + 题名指纹 + 正文长度归属校验）
原文题录
- 中文题名：中国新生儿孤立性亚硫酸盐氧化酶缺乏症的临床、神经影像与遗传分析：回顾性病例系列兼既往病例叙述综合
- 英文标题：Clinical, neuroimaging, and genetic analyses of isolated sulfite oxidase deficiency in Chinese neonates: a retrospective case series with a narrative synthesis of previously reported cases.
- 期刊与标识：Italian journal of pediatrics · PMID 42972410 · DOI 10.1186/s13052-026-02317-3 · PMC PMC13726308