Fujii Sachiko, Nakanishi Toshio
Department of Pediatric Cardiology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
Pediatr Int. 2015 Dec;57(6):1086-9. doi: 10.1111/ped.12665. Epub 2015 Nov 26.
This study investigated the evolution of hypocalcemia with age and its associated risk factors in patients with 22q11.2 deletion syndrome (22qDS) and congenital heart defects.
A retrospective review of the medical records of 16 22qDS patients (nine female, seven male; age range, 20.5-43 years) was performed. The frequency of hypocalcemia, as well as the clinical course of the disease and the presence of other phenotypes, were investigated.
Ten of the 16 patients (62.5%) had a history of hypocalcemia. Among the 10 patients, the first onset of hypocalcemia occurred in the following developmental periods: neonatal stage, n = 1; early childhood, n = 3; late childhood, n = 2; adolescence, n = 2; and adulthood, n = 2. Neonatal hypocalcemia was observed in one patient, but it was transient. Two patients had sustained hypocalcemia after cardiac surgery. Hypocalcemia in one patient was transient following cardiac surgery, but it recurred during early adulthood. One patient developed hypocalcemia at 43 years of age. Thymus defect tended to be correlated with history of hypocalcemia (P = 0.09). This condition was often transient (60%) and was triggered by physical stress, such as intracardiac surgery.
In 22qDS patients, hypocalcemia was often mild and transient during childhood, but it may recur in adulthood. Routine clinical measurement of serum calcium is recommended, particularly in 22qDS patients with thymic defect or in patients who are under physical stress.
本研究调查了22q11.2缺失综合征（22qDS）合并先天性心脏病患者低钙血症随年龄的演变及其相关危险因素。
对16例22qDS患者（9例女性，7例男性；年龄范围20.5 - 43岁）的病历进行回顾性分析。调查低钙血症的发生频率、疾病的临床病程以及其他表型的存在情况。
16例患者中有10例（62.5%）有低钙血症病史。在这10例患者中，低钙血症首次发作发生在以下发育阶段：新生儿期，n = 1；幼儿期，n = 3；儿童晚期，n = 2；青春期，n = 2；成年期，n = 2。1例患者出现新生儿低钙血症，但为短暂性。2例患者心脏手术后出现持续性低钙血症。1例患者心脏手术后低钙血症为短暂性，但在成年早期复发。1例患者43岁时出现低钙血症。胸腺缺陷倾向于与低钙血症病史相关（P = 0.09）。这种情况通常是短暂性的（60%），并由身体应激引发，如心脏内手术。
在22qDS患者中，低钙血症在儿童期通常较轻且为短暂性，但在成年期可能复发。建议进行血清钙的常规临床检测，特别是对于有胸腺缺陷的22qDS患者或处于身体应激状态的患者。
