A Young Woman With Recurrent Gestational Hypercalcemia and Acute Pancreatitis Caused by CYP24A1 Deficiency
A Young Woman With Recurrent Gestational Hypercalcemia and Acute Pancreatitis Caused by CYP24A1 Deficiency
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DOI：
10.1002/jbmr.2859
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发表时间：
2016-10-01
影响因子：
6.2
通讯作者：
Chi, Nai-Wen
中科院分区：
文献类型：
--
作者：
Woods, Gina N.;Saitman, Alec;Chi, Nai-Wen
CYP 24 A1基因编码一种使1，25（OH）（2）D失活的线粒体24-羟化酶。CYP 24 A1的功能丧失突变可导致高钙血症、肾结石和肾钙质沉着症。我们描述了一名妇女与CYP 24 A1缺乏症和反复妊娠高钙血症。她20岁时第一次怀孕，导致双胞胎胎儿宫内死亡。产后，她出现重度高钙血症（14 mg/dL）、精神状态改变和急性胰腺炎。她的PTH受到抑制（6 pg/mL），1，25（OH）2D升高（产后第1天和第5天分别为165和195 pg/mL）。在产后1至3个月期间，她的血清钙从11.4 mg/dL降至10.2 mg/dL，而她的1，25（OH）2D水平从83 pg/mL降至24 pg/mL。她的24小时尿钙为277毫克。六个月后，她又怀孕了。14周时，她的白蛋白校正钙水平为10.4 mg/dL，1，25（OH）（2）D水平超过200 pg/mL。为了建立CYP 24 A1缺乏症的诊断，我们显示她的24，25（OH）2D水平检测不到（
The CYP24A1 gene encodes a mitochondrial 24-hydroxylase that inactivates 1,25(OH)(2)D. Loss-of-function mutations in CYP24A1 cause hypercalcemia, nephrolithiasis and nephrocalcinosis. We describe a woman with CYP24A1 deficiency and recurrent gestational hypercalcemia. Her first pregnancy, at age 20, resulted with the intrauterine demise of twin fetuses. Postpartum, she developed severe hypercalcemia (14mg/dL), altered mental status, and acute pancreatitis. Her PTH was suppressed (6 pg/mL) and her 1,25(OH) 2D was elevated (165 and 195 pg/mL on postpartum day 1 and 5, respectively). Between one and three months postpartum, her serum calcium decreased from 11.4 to 10.2 mg/dL while her 1,25(OH) 2D level decreased from 83 to 24 pg/mL. Her 24-hour urine calcium was 277 mg. Six months postpartum, she became pregnant again. At 14 weeks, her albumin-corrected calcium level was 10.4 mg/dL and her 1,25 (OH)(2)D level exceeded 200 pg/mL. To establish the diagnosis of CYP24A1 deficiency, we showed her 24,25(OH) 2D level to be undetectable (