Parathyroid hormone reserve in 22q11.2 deletion syndrome
Parathyroid hormone reserve in 22q11.2 deletion syndrome
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DOI：
10.1097/gim.0b013e3181634edf
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发表时间：
2008-03-01
影响因子：
8.8
通讯作者：
Katz, Lorraine E. Levitt
中科院分区：
文献类型：
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作者：
Kapadia, Chirag R.;Kim, Yuran E.;Katz, Lorraine E. Levitt
目的：我们假设大多数22q11.2缺失且有低钙病史的患者甲状旁腺功能不足，表现为甲状旁腺激素水平低于正常水平。我们的目的是在这一人群中评估正常钙血症和低钙血症时完整甲状旁腺激素水平。研究设计：对1997年以后出生并在费城儿童医院治疗的103例22q11.2缺失患者进行回顾性分析。同时记录钙和完整甲状旁腺激素，以及低钙血症的临床表现。结果：获得47个Ca/完整甲状旁腺激素同时值。79%的钙水平和81%的甲状旁腺激素水平在正常范围内。有症状性低钙血症史的19例患者，分析其在低钙血症之前、期间和之后可用的Ca/甲状旁腺激素水平。在这个亚组中，59%的钙和76%的甲状旁腺激素水平正常。在低钙血症时，没有人有完整的甲状旁腺激素>39.2 pg/mL。73%的低钙事件有诱发性应激源。结论：22q11.2缺失的甲状旁腺功能减退是轻度的，表现为甲状旁腺激素储备减少。大多数情况下，受试者血钙正常，但无法升高完整甲状旁腺激素水平，因此无法纠正低钙血症，以应对应激源。
Objective: We hypothesized that most patients with 22q11.2 deletion and a history of hypocalcemia have inadequate parathyroid function, manifested by intact parathyroid hormone levels below normal. We aimed to evaluate intact parathyroid hormone levels both during normocalcemia and at hypocalcemia, in this population. Study Design: Retrospective chart review of 103 patients with 22q11.2 deletion born since 1997 and cared for at the Children's Hospital of Philadelphia. Calcium and intact parathyroid hormone drawn simultaneously were recorded, along with clinical presentation at hypocalcemia. Results: Forty-seven simultaneous Ca/intact parathyroid hormone values were available. Seventy-nine percent of calcium levels and 81% of parathyroid hormone levels were within normal range. There were 19 patients with a history of symptomatic hypocalcemia, for whom any available simultaneous Ca/parathyroid hormone levels, before, during, or after hypocalcemia were analyzed. In this subgroup, 59% of calcium and 76% of parathyroid hormone levels were normal. None had an intact parathyroid hormone of >39.2 pg/mL at hypocalcemia. Seventy-three percent of hypocalcemic events had a precipitating stressor. Conclusions: Hypoparathyroidism in 22q11.2 deletion is mild, manifesting as a phenomenon of decreased parathyroid hormone reserve. Subjects are normocalcemic most of the time, but are unable to mount elevated intact parathyroid hormone levels, and therefore unable to correct hypocalcemia, in response to stressors.