Mauvais Francois-Xavier, Gonzales Emmanuel, Davit-Spraul Anne, Jacquemin Emmanuel, Brauner Raja
Pediatric Hepatology and Liver Transplantation Unit, Reference centre for pediatric liver diseases-DHU Hepatinov, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.
Institut National de la Santé et de la Recherche Médicale Unité 1151 et Centre National de la Recherche Scientifique, UMR8253, Paris, France.
PLoS One. 2016 Feb 1;11(2):e0147750. doi: 10.1371/journal.pone.0147750. eCollection 2016.
Cholestasis has been reported during the course of congenital hypothalamic-pituitary deficiency, but crucial information is lacking regarding both its origin and prognosis. We aimed to characterize the course of cholestasis and factors contributing to it in patients with deficiency due to pituitary stalk interruption syndrome (PSIS).
We conducted a retrospective single-center, case-cohort study including 16 patients with PSIS diagnosed before one year of age. We collected clinical and biological parameters from medical records and compared the characteristics of the endocrine syndrome in PSIS patients with and without cholestasis.
5/16 patients had cholestasis, all with a neonatal onset and multiple hypothalamic-pituitary deficiency. Patients with cholestasis presented with lower Apgar score and higher rate of ophthalmic malformations: 3/5 vs 1/11, p = 0.03 and 5/5 vs 4/11, p = 0.02, respectively. The plasma cortisol level was strongly decreased in patients with cholestasis: 12.4 ng/mL (8-15 ng/mL) vs 79.4 ng/mL (10-210 ng/mL), p = 0.04. Cholestasis resolved within 9 months following hormone supplementation. No development of chronic liver disease was observed during a median follow-up of 9.4 years (range, 1.3-13.3 years).
Cholestasis is a frequent symptom at presentation of PSIS during the neonatal period that may help earlier diagnosis and that indicates a profound cortisol deficiency.
先天性下丘脑 - 垂体功能减退过程中曾有胆汁淤积的报道，但关于其起源和预后的关键信息尚缺乏。我们旨在描述垂体柄中断综合征（PSIS）所致功能减退患者胆汁淤积的病程及促成因素。
我们进行了一项回顾性单中心病例队列研究，纳入16例1岁前确诊的PSIS患者。我们从病历中收集临床和生物学参数，并比较有和无胆汁淤积的PSIS患者内分泌综合征的特征。
16例患者中有5例出现胆汁淤积，均为新生儿期起病且伴有多种下丘脑 - 垂体功能减退。有胆汁淤积的患者出生时阿氏评分较低，眼部畸形发生率较高：分别为3/5 对比1/11，p = 0.03 以及5/5对比4/11，p = 0.02。有胆汁淤积的患者血浆皮质醇水平显著降低：12.4 ng/mL（8 - 15 ng/mL）对比79.4 ng/mL（10 - 210 ng/mL），p = 0.04。激素补充后9个月内胆汁淤积消退。在中位随访9.4年（范围1.3 - 13.3年）期间未观察到慢性肝病的进展。
胆汁淤积是新生儿期PSIS患者就诊时的常见症状，可能有助于早期诊断，并提示存在严重的皮质醇缺乏。
