PDF(Pubmed)
Abstract：
UNASSIGNED: It has been reported that central adrenal insufficiency (CAI) in pediatric patients (pts) with Prader-Willi syndrome (PWS) may be a potential cause of their sudden death. In addition, the risk of CAI may increase during treatment with recombinant human growth hormone (rhGH).
UNASSIGNED: To prevent both over- and undertreatment with hydrocortisone, we evaluated the prevalence of CAI in a large multicenter cohort of pediatric pts with PWS analyzing adrenal response in the low-dose ACTH test (LDAT) and/or the glucagon stimulation test (GST) and reviewing the literature.
UNASSIGNED: A total of 46 pts with PWS were enrolled to the study, including 34 treated with rhGH with a median dose of 0.21 mg/kg/week. LDAT was performed in 46 pts, and GST was carried out in 13 pts. Both tests were conducted in 11 pts. The tests began at 8:00 a.m. Hormones were measured by radioimmunoassays. Serum cortisol response >181.2 ng/mL (500 nmol/L) in LDAT and >199.3 ng/mL (550 nmol/L) in GST was considered a normal response. Additionally, cortisol response delta (the difference between baseline and baseline) >90 ng/mL and doubling/tripling of baseline cortisol were considered indicators of normal adrenal reserve.
UNASSIGNED: Three GSTs were not diagnostic (no hypoglycemia obtained). LDAT results suggested CAI in four pts, but in two out of four pts, and CAI was excluded in GST. GST results suggested CAI in only one patient, but it was excluded in LDAT. Therefore, CAI was diagnosed in 2/46 pts (4.3%), 1 treated and 1 untreated with rhGH, with the highest cortisol values of 162 and 175 ng/dL, but only in one test. However, in one of them, the cortisol delta response was >90 ng/mL and peak cortisol was more than tripled from baseline. Finally, CAI was diagnosed in one patient treated with rhGH (2.2%).
UNASSIGNED: We present low prevalence of CAI in pediatric pts with PWS according to the latest literature. Therefore, we do not recommend to routinely screen the function of the hypothalamic-pituitary-adrenal axis (HPAA) in all pts with PWS, both treated and untreated with rhGH. According to a review of the literature, signs and symptoms or low morning ACTH levels suggestive of CAI require urgent and appropriate diagnosis of HPAA by stimulation test. Our data indicate that the diagnosis of CAI should be confirmed by at least two tests to prevent overtreatment with hydrocortisone.
UNASSIGNED: To prevent both over- and undertreatment with hydrocortisone, we evaluated the prevalence of CAI in a large multicenter cohort of pediatric pts with PWS analyzing adrenal response in the low-dose ACTH test (LDAT) and/or the glucagon stimulation test (GST) and reviewing the literature.
UNASSIGNED: A total of 46 pts with PWS were enrolled to the study, including 34 treated with rhGH with a median dose of 0.21 mg/kg/week. LDAT was performed in 46 pts, and GST was carried out in 13 pts. Both tests were conducted in 11 pts. The tests began at 8:00 a.m. Hormones were measured by radioimmunoassays. Serum cortisol response >181.2 ng/mL (500 nmol/L) in LDAT and >199.3 ng/mL (550 nmol/L) in GST was considered a normal response. Additionally, cortisol response delta (the difference between baseline and baseline) >90 ng/mL and doubling/tripling of baseline cortisol were considered indicators of normal adrenal reserve.
UNASSIGNED: Three GSTs were not diagnostic (no hypoglycemia obtained). LDAT results suggested CAI in four pts, but in two out of four pts, and CAI was excluded in GST. GST results suggested CAI in only one patient, but it was excluded in LDAT. Therefore, CAI was diagnosed in 2/46 pts (4.3%), 1 treated and 1 untreated with rhGH, with the highest cortisol values of 162 and 175 ng/dL, but only in one test. However, in one of them, the cortisol delta response was >90 ng/mL and peak cortisol was more than tripled from baseline. Finally, CAI was diagnosed in one patient treated with rhGH (2.2%).
UNASSIGNED: We present low prevalence of CAI in pediatric pts with PWS according to the latest literature. Therefore, we do not recommend to routinely screen the function of the hypothalamic-pituitary-adrenal axis (HPAA) in all pts with PWS, both treated and untreated with rhGH. According to a review of the literature, signs and symptoms or low morning ACTH levels suggestive of CAI require urgent and appropriate diagnosis of HPAA by stimulation test. Our data indicate that the diagnosis of CAI should be confirmed by at least two tests to prevent overtreatment with hydrocortisone.
摘要：
■据报道，患有Prader-Willi综合征（PWS）的儿科患者（pts）的中枢肾上腺功能不全（CAI）可能是其猝死的潜在原因。此外,在使用重组人生长激素(rhGH)治疗期间,CAI的风险可能增加.
■为了防止氢化可的松过度和不充分治疗，我们通过PWS分析低剂量ACTH试验(LDAT)和/或胰高血糖素刺激试验(GST)中的肾上腺反应,并回顾文献,评估了一个大型多中心儿科患者队列中CAI的患病率.
■共有46名PWS患者被纳入研究，包括34例rhGH治疗，中位剂量为0.21mg/kg/周。LDAT在46例患者中进行，商品及服务税在13分中进行。两项测试均在11分进行。测试在上午8:00开始。通过放射免疫测定法测量激素。LDAT中血清皮质醇反应>181.2ng/mL（500nmol/L）和GST中>199.3ng/mL（550nmol/L）被认为是正常反应。此外,皮质醇反应增量(基线和基线之间的差异)>90ng/mL和基线皮质醇的加倍/三倍被认为是正常肾上腺储备的指标。
■三种GST不能诊断（没有获得低血糖）。LDAT结果显示四名患者出现CAI，但是在四分之三的人中，CAI被排除在GST中。GST结果显示只有一名患者出现CAI，但在LDAT中被排除。因此,CAI诊断为2/46分（4.3％），1处理和1未处理rhGH，皮质醇的最高值分别为162和175ng/dL，但只有一次测试。然而,在其中一个，皮质醇δ反应>90ng/mL,皮质醇峰值比基线增加了两倍多.最后,在用rhGH治疗的一名患者中诊断出CAI(2.2%)。
■根据最新文献，我们在PWS的儿科患者中显示CAI的患病率较低。因此,我们不建议在所有PWS患者中常规筛查下丘脑-垂体-肾上腺轴（HPAA）的功能，用rhGH治疗和未治疗。根据文献综述,提示CAI的体征和症状或早晨ACTH水平较低，需要通过刺激试验对HPAA进行紧急和适当的诊断。我们的数据表明，CAI的诊断应通过至少两项测试来确认，以防止氢化可的松过度治疗。
■为了防止氢化可的松过度和不充分治疗，我们通过PWS分析低剂量ACTH试验(LDAT)和/或胰高血糖素刺激试验(GST)中的肾上腺反应,并回顾文献,评估了一个大型多中心儿科患者队列中CAI的患病率.
■共有46名PWS患者被纳入研究，包括34例rhGH治疗，中位剂量为0.21mg/kg/周。LDAT在46例患者中进行，商品及服务税在13分中进行。两项测试均在11分进行。测试在上午8:00开始。通过放射免疫测定法测量激素。LDAT中血清皮质醇反应>181.2ng/mL（500nmol/L）和GST中>199.3ng/mL（550nmol/L）被认为是正常反应。此外,皮质醇反应增量(基线和基线之间的差异)>90ng/mL和基线皮质醇的加倍/三倍被认为是正常肾上腺储备的指标。
■三种GST不能诊断（没有获得低血糖）。LDAT结果显示四名患者出现CAI，但是在四分之三的人中，CAI被排除在GST中。GST结果显示只有一名患者出现CAI，但在LDAT中被排除。因此,CAI诊断为2/46分（4.3％），1处理和1未处理rhGH，皮质醇的最高值分别为162和175ng/dL，但只有一次测试。然而,在其中一个，皮质醇δ反应>90ng/mL,皮质醇峰值比基线增加了两倍多.最后,在用rhGH治疗的一名患者中诊断出CAI(2.2%)。
■根据最新文献，我们在PWS的儿科患者中显示CAI的患病率较低。因此,我们不建议在所有PWS患者中常规筛查下丘脑-垂体-肾上腺轴（HPAA）的功能，用rhGH治疗和未治疗。根据文献综述,提示CAI的体征和症状或早晨ACTH水平较低，需要通过刺激试验对HPAA进行紧急和适当的诊断。我们的数据表明，CAI的诊断应通过至少两项测试来确认，以防止氢化可的松过度治疗。
