Fukuhara Daisuke, Takiura Toshihiko, Keino Hiroshi, Okada Annabelle A, Yan Kunimasa
Departments of Pediatrics, and.
Ophthalmology, Kyorin University School of Medicine, Mitaka, Tokyo, Japan.
Pediatrics. 2017 Feb;139(2). doi: 10.1542/peds.2016-1233.
Iatrogenic Cushing's syndrome (CS) is a severe adverse effect of systemic glucocorticoid (GC) therapy in children, but is extremely rare in the setting of topical ocular GC therapy. In this article, we report the case of a 9-year-old girl suffering from idiopathic uveitis who developed CS due to topical ocular GC treatment. She was referred to the ophthalmology department with a complaint of painful eyes, at which time she was diagnosed with bilateral iridocyclitis and started on a treatment of betamethasone sodium phosphate eye drops. Six months after the initiation of topical ocular GC treatment, she was referred to our pediatric department with stunted growth, truncal obesity, purple skin striate, buffalo hump, and moon face. Because her serum cortisol and plasma adrenocorticotropic hormone levels were undetectable, she was diagnosed with iatrogenic CS. After the doses of topical ocular GC were reduced, the clinical symptoms of CS were improved. The fact that the amount of topical ocular GC with our patient was apparently less than that of similar previous cases tempted us to perform genetic analysis of her NR3C1 gene. We found that our patient had a single heterozygous nucleotide substitution in the 3' untranslated region of the NR3C1 gene, which may explain why she developed CS. However, additional investigations are required to determine if our findings can be extrapolated to other patients. In conclusion, clinicians should be aware that even extremely low doses of topical ocular steroid therapy can cause iatrogenic CS.
医源性库欣综合征（CS）是儿童全身性糖皮质激素（GC）治疗的一种严重不良反应，但在局部眼部GC治疗中极为罕见。在本文中，我们报告了一例9岁患特发性葡萄膜炎的女孩，因局部眼部GC治疗而发生CS。她因眼睛疼痛被转诊至眼科，当时被诊断为双侧虹膜睫状体炎，并开始使用倍他米松磷酸钠滴眼液治疗。局部眼部GC治疗开始6个月后，她因生长发育迟缓、躯干肥胖、皮肤紫纹、水牛背和满月脸被转诊至我们的儿科。由于她的血清皮质醇和血浆促肾上腺皮质激素水平检测不到，她被诊断为医源性CS。减少局部眼部GC剂量后，CS的临床症状有所改善。我们的患者局部眼部GC用量明显少于以往类似病例，这促使我们对她的NR3C1基因进行基因分析。我们发现我们的患者在NR3C1基因的3'非翻译区有一个单杂合核苷酸替换，这可能解释了她为何发生CS。然而，需要进一步研究以确定我们的发现是否能推广到其他患者。总之，临床医生应意识到，即使是极低剂量的局部眼部类固醇治疗也可能导致医源性CS。
