Shen Li, Gu Haitao, Wang Dongjing, Yang Chi, Xu Zhengfeng, Jing Hua, Jiang Yongzhong, Ding Yibing, Hou Huacheng, Ge Zhijuan, Chen Shilin, Mo Xuming, Yi Long
Department of Pathology, Nanjing University Medical School, Nanjing 210093, People's Republic of China.
Pediatr Cardiol. 2011 Oct;32(7):904-9. doi: 10.1007/s00246-011-0012-y. Epub 2011 Jun 16.
One of the most common constitutional chromosomal abnormalities, 22q11.2 microdeletion (del22q11.2) syndrome has diverse medical complications, such as congenital heart defect, hypocalcaemia, and immune deficiency, which require coordinated multidisciplinary care. Until now, the natural history of hypocalcaemia in chromosome del22q11.2 syndrome had been only partly documented, but there has been limited recognition of the importance of calcium status during the postoperative period when altered calcium status may be associated with serious complications. The goals of our study were (1) to delineate the clinical characteristics of serum calcium in patients with del22q11.2 during the postoperative period and (2) to make recommendations for the investigation and management of del22q11.2 patients after cardiac correction. This study included 22 children diagnosed with del22q11.2 syndrome and 110 children without del22q11.2 syndrome from Nanjing Children's Hospital. Clinical examinations and blood ionized calcium testing were reviewed retrospectively. A comparative study of postoperative calcium levels and complications of del22q11.2 patients with nondeletion patients was performed. Association between postoperative hypocalcaemia and adverse incidents after cardiac correction was also examined. Postoperative hypocalcaemia was observed among 86.4% of del22q11.2 patients and among only 47.3% of nondeletion subjects. The difference was statistically significant (P = 0.0017). Patients with del22q11.2 syndrome also had a much sharper decrease in serum calcium levels during the first 6 h after surgery than nondeletion patients. Postoperative clinical analysis showed that del22q11.2 patients with hypocalcaemia experience more postoperative complications (18 of 19) and greater mortality (5 of 19) after cardiac correction than del22q11.2 patients without normal calcium levels and nondeletion patients. Del22q11.2 children have high susceptibility of hypocalcaemia during the postoperative period, and this low calcium status after cardiac correction may be associated with significant risk of postoperative complications and mortality in patients with del22q11.2.
22q11.2微缺失（del22q11.2）综合征是最常见的染色体结构异常之一，有多种医学并发症，如先天性心脏缺陷、低钙血症和免疫缺陷，需要多学科协同护理。到目前为止，染色体del22q11.2综合征患者低钙血症的自然病史仅有部分记录，但对于术后钙状态改变可能与严重并发症相关时钙状态的重要性认识有限。我们研究的目的是：（1）描述del22q11.2患者术后血清钙的临床特征；（2）为心脏矫正术后del22q11.2患者的检查和管理提出建议。本研究纳入了来自南京儿童医院的22例诊断为del22q11.2综合征的儿童和110例无del22q11.2综合征的儿童。对临床检查和血离子钙检测进行回顾性分析。对del22q11.2患者与非缺失患者术后钙水平及并发症进行对比研究。还研究了术后低钙血症与心脏矫正术后不良事件之间的关联。86.4%的del22q11.2患者术后出现低钙血症，而非缺失患者中只有47.3%出现低钙血症。差异具有统计学意义（P = 0.0017）。del22q11.2综合征患者术后6小时内血清钙水平下降幅度也比非缺失患者大得多。术后临床分析表明，与钙水平正常的del22q11.2患者和非缺失患者相比，术后发生低钙血症的del22q11.2患者心脏矫正术后出现更多并发症（19例中的18例）和更高死亡率（19例中的5例）。del22q11.2儿童术后低钙血症易感性高，心脏矫正术后这种低钙状态可能与del22q11.2患者术后并发症和死亡的重大风险相关。
