Beauloye Veronique, Dhondt K, Buysse W, Nyakasane A, Zech F, De Schepper J, Van Aken S, De Waele K, Craen M, Gies I, Francois I, Beckers D, Desloovere A, Francois G, Cools M
Unité d'Endocrinologie pédiatrique, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, avenue Hippocrate 10/1300, Brussels, B-1200, Belgium.
Department of Pediatrics, Division of Child Neurology and Metabolism, Pediatric sleep center, Ghent University Hospital, Ghent, Belgium.
Orphanet J Rare Dis. 2015 Sep 2;10:106. doi: 10.1186/s13023-015-0312-z.
Children with Prader-Willi Syndrome (PWS) have been considered at risk for central adrenal insufficiency (CAI). Hypothalamic dysregulation has been proposed as a common mechanism underlying both stress-induced CAI and central respiratory dysfunction during sleep.
To evaluate CAI and sleep-related breathing disorders in PWS children.
Retrospective study of cortisol response following either insulin tolerance test (ITT) or glucagon test (GT) in 20 PWS children, and comparison with 33 non- Growth Hormone deficient (GHD) controls. Correlation between sleep related breathing disorders and cortisol response in 11 PWS children who received both investigations.
In PWS children, the cortisol peak value showed a significant, inverse correlation with age (Kendall's τ = -0.411; p = 0.012). A similar though non-significant correlation was present between cortisol increase and age (τ = -0.232; p = 0.16). Similar correlations were found in controls. In only 1 of 20 PWS children (5 %), ITT was suggestive of CAI. Four patients had an elevated central apnea index but they all exhibited a normal cortisol response. No relationship was found between peak cortisol or cortisol increase and central apnea index (respectively p = 0.94 and p = 0.14) or the other studied polysomnography (PSG) parameters.
CAI assessed by ITT/GT is rare in PWS children. Our data do not support a link between CAI and central respiratory dysregulation.
普拉德-威利综合征（PWS）患儿被认为存在中枢性肾上腺皮质功能减退（CAI）风险。下丘脑调节功能障碍被认为是应激诱导的CAI和睡眠期间中枢性呼吸功能障碍的共同潜在机制。
评估PWS患儿的CAI和睡眠相关呼吸障碍。
对20例PWS患儿进行胰岛素耐量试验（ITT）或胰高血糖素试验（GT）后皮质醇反应的回顾性研究，并与33例非生长激素缺乏（GHD）对照进行比较。对11例接受两项检查的PWS患儿，分析睡眠相关呼吸障碍与皮质醇反应之间的相关性。
在PWS患儿中，皮质醇峰值与年龄呈显著负相关（肯德尔τ=-0.411；p=0.012）。皮质醇升高与年龄之间存在类似但不显著的相关性（τ=-0.232；p=0.16）。在对照组中也发现了类似的相关性。20例PWS患儿中只有1例（5%）ITT提示存在CAI。4例患儿中枢性呼吸暂停指数升高，但他们的皮质醇反应均正常。未发现皮质醇峰值或皮质醇升高与中枢性呼吸暂停指数（p分别为0.94和0.14）或其他研究的多导睡眠图（PSG）参数之间存在关联。
通过ITT/GT评估的CAI在PWS患儿中很少见。我们的数据不支持CAI与中枢性呼吸调节障碍之间存在联系。
