Marta Marcia, Paola Coppo, Giuseppe Alberto Annoni, Gaetana Ferraro, Gabriella Agnoletti, Giuseppe Antonio Mazza
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引用次数: 0
摘要
猪尿失禁症(IP)是一种罕见的 X 连锁显性神经外胚层发育不良症,几乎只影响女性。它是由 B 细胞中的卡巴轻多肽基因增强子抑制剂、激酶伽马基因(以前称为 NF-κB 重要调节因子)的功能缺失突变引起的。这种疾病通常是通过出生后第一年出现的特殊皮肤症状来识别的。约三分之一的患者有眼部和神经系统异常,导致严重残疾。毛发、指甲和牙齿也可能出现缺陷。在全身并发症中,肺动脉高压(PAH)并不常见,但可能危及生命。迄今为止,文献中仅描述了六例,其中四例在一岁前死亡。在此,我们报告了一例 2 个月大的 IP 重度 PAH 女婴的病例,她在接受肺部降压和抗炎治疗后获得成功。
Successful treatment of pulmonary arterial hypertension in a 2-month-old female infant with incontinentia pigmenti: A case report.
Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia affecting almost exclusively females. It is caused by loss-of-function mutations in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma gene, formerly known as NF-κB essential modulator. The disorder is typically identified by peculiar skin findings that develop throughout the 1st year of life. Approximately one-third of patients has ocular and neurologic abnormalities causing severe disability. Defects of hair, nails, and teeth can also occur. Among systemic complications, pulmonary arterial hypertension (PAH) is uncommon but potentially life-threatening. Only six cases have been described in the literature so far, and four of them died before reaching 1 year of age. Herein, we report the case of a 2-month-old girl with IP and severe PAH, successfully treated with pulmonary antihypertensive and anti-inflammatory therapy.