Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
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DOI：
10.1186/s13023-020-01606-2
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发表时间：
2020-12-03
影响因子：
3.7
通讯作者：
Han L
中科院分区：
文献类型：
--
作者：
Lu D;Han F;Qiu W;Zhang H;Ye J;Liang L;Wang Y;Ji W;Zhan X;Gu X;Han L
本研究旨在描述中国鸟氨酸转甲氨基酰基酶缺乏症（OTCD）患者的临床和生化特征，探讨OTC基因的突变谱及其与表型的潜在相关性。2004年至2019年期间，69名OTCD患者入组。回顾性分析了临床和实验室资料。15例（男13例，女2例）出现早发；53例（男21例，女32例）发病晚，女1例无症状。中位发病年龄为1.5岁（范围1 - 56岁）。所有检测的患者尿中乳酸酸水平均升高，而只有47.6%的患者血清中瓜氨酸水平下降。早发患者血氨峰值高于晚发患者（P < 0.01）。共鉴定出54种不同的OTC基因突变，其中18种为新突变。最常见的突变是R277W(10.6%)，其次是G195R（4.6%）和A209V（3.0%）。截至2019年6月，41例患者存活，24例死亡，4例失访。幸存者中有13例患者接受了肝移植，中位年龄为3岁，1年生存率为100%。早发患者的OTCD死亡率极高（80.0%，晚发患者为24.5%）。血清瓜氨酸水平评估对OTCD的诊断价值有限，而尿乳酸酸检测和基因检测更有帮助。
This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential correlation with phenotype. Sixty-nine patients with OTCD were enrolled between 2004 and 2019. Clinical and laboratory data were reviewed retrospectively from medical records. Fifteen cases (13 males, 2 females) presented with early onset; 53 cases (21 males, 32 females) had late onset, and one female was asymptomatic. The median onset age was 1.5 years (range 1 day–56 years). Urine orotic acid levels were increased in all patients tested, while only 47.6% of patients showed decreased serum levels of citrulline. The peak plasma ammonia levels were higher in early-onset patients than in late-onset patients (P < 0.01). Fifty-four different mutations of OTC gene were identified and 18 of them were novel. R277W (10.6%) was the most common mutation, followed by G195R (4.6%) and A209V (3.0%). By June 2019, 41 patients had survived, 24 were deceased, and 4 were lost to follow-up. Among the survivors, 13 patients had received liver transplantation at a median age of 3 years, with a one-year survival rate of 100%. The mortality of OTCD is extremely high among patients with early onset (80.0% versus 24.5% in patients with late onset). The evaluation of serum citrulline level is of limited value in diagnosis of OTCD, while urine orotic acid detection and genetic testing are more helpful.
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影响因子：
3.7
作者：
Brassier A;Gobin S;Arnoux JB;Valayannopoulos V;Habarou F;Kossorotoff M;Servais A;Barbier V;Dubois S;Touati G;Barouki R;Lesage F;Dupic L;Bonnefont JP;Ottolenghi C;De Lonlay P
通讯作者：
De Lonlay P
进一步描述截短 KMT2A 突变的表型：扩展的 Wiedemann-Steiner 综合征。
影响因子：
2
作者：
Sun, Yu;Hu, Guorui;Yu, Yongguo
通讯作者：
Yu, Yongguo
影响因子：
4
作者：
Matsuda, I;Matsuura, T;Yoshino, M
通讯作者：
Yoshino, M
影响因子：
5.3
作者：
MATSUURA, T;HOSHIDE, R;MATSUDA, I
通讯作者：
MATSUDA, I
影响因子：
3.9
作者：
TUCHMAN, M;PLANTE, RJ
通讯作者：
PLANTE, RJ