Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.
Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.
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DOI：
10.1111/cen.12466
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发表时间：
2014-08
影响因子：
3.2
通讯作者：
Bassett AS
中科院分区：
文献类型：
--
作者：
Cheung EN;George SR;Costain GA;Andrade DM;Chow EW;Silversides CK;Bassett AS
22q11·2缺失综合征（22q11·2DS）是一种相对常见但未被充分认识的遗传综合征，可能表现为内分泌特征。我们的目的是解决导致低钙血症高发的因素。我们利用实验室研究和终身医疗记录，对138名22q11·2DS（65米，73英尺，平均年龄34.2岁，SD 11.8岁）的成年人进行了低钙血症调查。使用逻辑回归模型来确定与低钙血症终生患病率相关的特征。在总样本中，111例（80.4%）有终生低钙史。13例新生儿低钙血症患者中有11例（84.6%）有低钙血症复发记录。终生低钙史与甲状旁腺功能减退（P < 0.0001）和甲状腺功能减退（P = 0.04）的终生患病率相关，均为统计学独立因素。低镁血症与并发低钙血症相关，特别是在并发甲状旁腺功能低下的情况下（P = 0.02）。结果提示，22q11·2DS新生儿低钙血症除了甲状旁腺功能减退的主要影响外，甲状腺功能减退也可能起一定作用，且新生儿低钙血症复发率较高。低镁血症可能通过进一步抑制甲状旁腺激素（PTH）而导致低钙血症。虽然需要进一步的研究，但研究结果支持定期随访22q11·2DS患者的钙、镁、PTH和TSH水平。在任何年龄，低钙血症伴甲状旁腺功能减退和/或甲状腺功能减退可能提示22q11·2DS的诊断。
22q11·2 deletion syndrome (22q11·2DS) is a relatively common yet under-recognized genetic syndrome that may present with endocrine features. We aimed to address the factors that contribute to the high prevalence of hypocalcaemia. We investigated hypocalcaemia in a well-characterized sample of 138 adults with 22q11·2DS (65 m, 73 F; mean age 34·2, SD 11·8, years) using laboratory studies and lifelong medical records. Logistic regression modelling was used to identify features associated with lifetime prevalence of hypocalcaemia. Of the total sample, 111 (80·4%) had a lifetime history of hypocalcaemia. Eleven (84·6%) of 13 subjects with neonatal hypocalcaemia had documented recurrence of hypocalcaemia. Lifetime history of hypocalcaemia was associated with lifetime prevalence of hypoparathyroidism (P < 0·0001) and hypothyroidism (P = 0·04), as statistically independent factors. Hypomagnesaemia was associated with concurrent hypocalcaemic measurements, especially in the presence of concurrent hypoparathyroidism (P = 0·02). The results suggest that, in addition to the major effect of hypoparathyroidism, hypothyroidism may play a role in hypocalcaemia in 22q11·2DS and that there is a high recurrence rate of neonatal hypocalcaemia. Hypomagnesaemia may contribute to hypocalcaemia by further suppressing parathyroid hormone (PTH). Although further studies are needed, the findings support regular lifelong follow-up of calcium, magnesium, PTH and TSH levels in patients with 22q11·2DS. At any age, hypocalcaemia with hypoparathyroidism and/or hypothyroidism may suggest a diagnosis of 22q11·2DS.
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影响因子：
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作者：
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通讯作者：
KENNY, DA
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通讯作者：
Gatzoulis, MA
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通讯作者：
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