| 摘要: |
| 目的:分析儿童 Wolfram 综合征(WS)的基因型和临床特点。 方法:回顾性总结分析 1 例 WS 患儿的临床资料及基因检测结果。 结果:患儿,男,16 岁,2 岁时在当地医院诊断“1 型糖尿病”;8 岁时因“视力进行性下降”行双眼白内障针吸+人工晶体植入术;11 岁时诊断“尿崩症、神经源性膀胱、双侧输尿管扩张、肾积水”,予去氨加压片口服及间断导尿治疗,肾功能进行性恶
化;15 岁时进入终末期肾病,接受血液透析治疗;16 岁时行异体肾移植,腹部输尿管造口排尿。 现患儿经胰岛素泵给予门冬胰岛素控制血糖,醋酸去氨加压素片缓解多尿症状,他克莫司抗排斥治疗。 基因检测显示,患儿 WFS1 基因纯合移码突变(c. 14delC),导致氨基酸移码 138 位后提前终止(p. T5Mfs∗138);父母验证为杂合突变。 依据美国医学遗传学与基因组学学会
(ACMG)指南,该突变为致病性突变,人类基因突变数据库(HGMD)未见报道,为新发现的突变位点。 结论:WS 为多系统受损疾病,进展快,预后差,极易误诊、漏诊。 基因检测是确诊 WS 的重要依据。 对于<10 岁儿童发现有血糖异常伴视力或听力下降者应考虑此病并积极行基因筛查。 本研究新发现 1 个 WFS1 基因纯合的移码突变位点,丰富了 WFS1 基因的突变谱。 |
| 关键词: 基因突变 WFS1 基因 Wolfram 综合征 |
| DOI：10.13407/j.cnki.jpp.1672-108X.2023.08.010 |
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| 基金项目:深圳市高水平医院建设专项经费资助项目,编号 SZGSP012。 |
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| Novel Mutation of WFS1 Gene in One Pediatric Case of Wolfram Syndrome |
| Jia Shilei, Chen Rendian, Gao Xiaojie, Chen Ranran, Ni Fenfen, Nan Xiaojuan, Guo Jianqun |
| (Shenzhen Children’s Hospital, Guangdong Shenzhen 518026, China) |
| Abstract: |
| To explore the predictive value of urinary liver type fatty acid binding proteins (L-FABP) and serum heat shock proteins (Hsp72) on acute kidney injury (AKI) and prognosis in children with sepsis. Methods: Totally 216 children with sepsis treated in the pediatric intensive care unit (PICU) of Dujiangyan Maternal and Child Health Hospital from Jun. 2018 to Apr. 2021 were extracted to be divided into the AKI group (n = 80) and non-AKI group (n = 136) according to the occurrence of AKI. According to the staging standard of AKI, AKI group was further divided into the AKI-1 group (n = 28), AKI-2 group (n = 23) and AKI-3 group (n = 29). According to the 28 d survival, the children were divided into the survival group (n = 165) and death group (n = 51). The levels of urinary L-FABP and serum Hsp72 among different groups were compared. Receiver operating characteristic (ROC) curve was used to evaluate the predictive value of urinary L-FABP and serum Hsp72 levels for secondary AKI and prognosis in children with sepsis. Univariate Logistic regression was used to analyze the correlation between the elevated levels of urinary L-FABP and serum Hsp72 and the risk of secondary AKI and death in children with sepsis. Results: The levels of urinary L-FABP and serum Hsp72 in AKI group were higher than those in non-AKI group (P<0. 05). The levels of urinary L-FABP and serum Hsp72 in AKI-3 group > AKI-2 group > AKI-1 group > non-AKI group, the differences were statistically significant (P<0. 05). The levels of urinary L-FABP and serum Hsp72 in the death group were higher than those in the survival group (P<0. 05). ROC curve showed that area under the curve (AUC) of urinary L-FABP, serum Hsp72 and urinary L-FABP + serum Hsp72 in predicting secondary AKI in children with sepsis were 0. 893, 0. 823 and 0. 920. The AUC of urinary L-FABP + serum Hsp72 was higher than that of serum urinary L-FABP and serum Hsp72 ( Z was respectively 5. 819, 4. 972, P< 0. 05). The sensitivity and specificity were 89. 4% and 80. 6% respectively. The AUC of urinary LFABP, serum Hsp72 and urinary L-FABP + serum Hsp72 in predicting the prognosis of children with sepsis were 0. 786, 0. 817 and 0. 902. The AUC of urinary L-FABP + serum Hsp72 was higher than that of urinary L-FABP and serum Hsp72 (Z was respectively 4. 763, 3. 796, P<0. 05). The sensitivity and specificity were 89. 6% and 80. 9% respectively. Univariate Logistic regression analysis showed that the elevated levels of urinary L-FABP and serum Hsp72 were significantly correlated with the risk of secondary AKI and death in children with sepsis (P<0. 05). Conclusion: Urinary L-FABP and serum Hsp72 are effective indicators to predict secondaryAKI and prognosis in children with sepsis. The combination of the two indicators is helpful to improve the efficiency of AKI diagnosis andprognosis evaluation. |
| Key words: gene mutation WFS1 gene Wolfram syndrome |
