Schoelwer Melissa J, Viswanathan Vidhya, Wilson Amy, Nailescu Corina, Imel Erik A
Department of Pediatrics, Division of Endocrinology, Riley Hospital for Children, Indianapolis, Indiana 46202.
Department of Pediatrics, Division of Endocrinology, Advocate Children's Hospital, Oak Lawn, Illinois 60453.
J Endocr Soc. 2017 Aug 1;1(9):1160-1167. doi: 10.1210/js.2017-00145. eCollection 2017 Sep 1.
Hypercalcemia is reported as a rare finding in adrenal insufficiency, but is not well described in congenital adrenal hyperplasia (CAH).
A retrospective chart review was conducted of patients with CAH diagnosed before the age of 2 years who had at least one recorded serum calcium measurement. Data from birth to 6 years of age were reviewed.
Of the 40 patients who met inclusion criteria, 33 (82.5%) had at least one elevated calcium concentration and 21 (53%) had two or more elevated calcium concentrations. Of the 126 elevated serum calcium concentrations, the median was 10.9 mg/dL (range, 10.6 to 14.2 mg/dL). Median age at the last elevated calcium measurement was 5 months (range, 0.3 to 46 months). Serum calcium concentration was inversely related to age ( = -0.124; = 0.004). Overall, calcium level positively correlated with 17-hydroxyprogesterone (17OHP) concentration ( = 0.170; = 0.003), and this remained significant after adjusting for age ( < 0.05). However, patients had hypercalcemia with both high and low 17OHP concentrations. Serum calcium concentration also was positively related to glucocorticoid ( = 0.196; = 0.012) and fludrocortisone ( = 0.229; = 0.003) doses, and remained significant after age adjustment. Only seven patients were evaluated for hypercalciuria. Of these, six had at least one period of documented hypercalciuria. Three patients had nephrocalcinosis on renal ultrasound.
Children with CAH are at risk for developing hypercalcemia, hypercalciuria, and nephrocalcinosis. Further studies are needed to determine the broader prevalence and the etiology of hypercalcemia in CAH.
高钙血症在肾上腺功能不全中是一种罕见表现，但在先天性肾上腺增生症（CAH）中尚无充分描述。
对2岁前诊断为CAH且至少有一次血清钙测量记录的患者进行回顾性病历审查。回顾了从出生到6岁的数据。
在符合纳入标准的40例患者中，33例（82.5%）至少有一次钙浓度升高，21例（53%）有两次或更多次钙浓度升高。在126次升高的血清钙浓度中，中位数为10.9mg/dL（范围为10.6至14.2mg/dL）。最后一次钙浓度升高时的中位年龄为5个月（范围为0.3至46个月）。血清钙浓度与年龄呈负相关（r = -0.124；P = 0.004）。总体而言，钙水平与17-羟孕酮（17OHP）浓度呈正相关（r = 0.170；P = 0.003），在调整年龄后这一相关性仍显著（P < 0.05）。然而，患者在17OHP浓度高和低时均出现高钙血症。血清钙浓度也与糖皮质激素剂量（r = 0.196；P = 0.012）和氟氢可的松剂量（r = 0.229；P = 0.003）呈正相关，在年龄调整后仍显著。仅对7例患者进行了高钙尿症评估。其中，6例至少有一段记录的高钙尿症时期。肾超声检查发现3例患者有肾钙质沉着症。
CAH患儿有发生高钙血症、高钙尿症和肾钙质沉着症的风险。需要进一步研究以确定CAH中高钙血症的更广泛患病率和病因。
