原发性全身性糖皮质激素超敏反应(PGGH)是一种非常罕见的疾病,由对糖皮质激素的终末器官超敏反应引起,其病因尚不清楚。PGGH的发病率极为罕见,尤其是儿童。迄今为止,关于病因学的文献,PGGH的预后和治疗很少。这项研究的目的是描述一个家庭中两名中国儿童患有婴儿PGGH的病例,其中一人死亡,一人接受米非司酮治疗。他们是文献中报道的两个最小的PGGH儿童。
在这个家庭中,有两个患有婴儿PGGH的兄弟姐妹受到了影响。患者1的主要表现为典型的库欣综合征样表现,在发作期间,生理剂量的糖皮质激素和极低水平的血清皮质醇和促肾上腺皮质激素激素(ACTH)后,症状显着加重。在被诊断为PGGH后,他接受了避免糖皮质激素的指导,并服用了米非司酮治疗5个月,他的症状好转了.患者2是患者1的弟弟,在4个月大时表现与他的弟弟相似。患者2最终在9个月大时死亡。
PGGH是一种非常罕见的疾病,如果不及时诊断和治疗,可能导致死亡。本文描述了文献中报道的两个最小的PGGH儿童的案例,其中一人在米非司酮治疗后有所改善,并增加了对PGGH临床表现和治疗经验的了解。
Primary generalized glucocorticoid hypersensitivity (PGGH) is a very rare disease caused by terminal organ hypersensitivity to glucocorticoids for which the aetiology is unknown. The incidence of PGGH is extremely rare, especially in children. To date, the literatures about the etiology, prognosis and treatment of PGGH are scarce. Aim of the study is describing the cases of two Chinese children with infantile-onset PGGH in one family, one of whom died and one who was treated with mifepristone. They are the two youngest children with PGGH reported in the literature.
Two siblings with infantile-onset PGGH were affected in this family. The main manifestations of patient 1 were typical Cushing\'s syndrome-like manifestations, significantly aggravated symptoms after physiological doses of glucocorticoids and very low levels of serum cortisol and adrenocorticotropin hormone (ACTH) during attacks. After being diagnosed with PGGH, he was given guidance to avoid glucocorticoids and took mifepristone therapy for 5 months, and his symptoms improved. Patient 2 was the younger brother of patient 1, with similar manifestations to his brother at the age of 4 months. Patient 2 ultimately died at the age of 9 months.
PGGH is a very rare disease that can lead to death if not diagnosed and treated in a timely manner. This article describes the cases of the two youngest children with PGGH reported in the literature, one of whom improved after mifepristone treatment, and increases the knowledge of the clinical manifestations of and the treatment experience in PGGH.