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Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study.
Orphanet Journal of Rare Diseases ( IF 3.7 ) Pub Date : 2020-01-10 , DOI: 10.1186/s13023-019-1288-x Sigrun Wohlfart 1 , Ralph Meiller 2 , Johanna Hammersen 1 , Jung Park 1 , Johannes Menzel-Severing 3 , Volker O Melichar 1 , Kenneth Huttner 4 , Ramsey Johnson 4 , Florence Porte 5 , Holm Schneider 1
Orphanet Journal of Rare Diseases ( IF 3.7 ) Pub Date : 2020-01-10 , DOI: 10.1186/s13023-019-1288-x Sigrun Wohlfart 1 , Ralph Meiller 2 , Johanna Hammersen 1 , Jung Park 1 , Johannes Menzel-Severing 3 , Volker O Melichar 1 , Kenneth Huttner 4 , Ramsey Johnson 4 , Florence Porte 5 , Holm Schneider 1
Affiliation
BACKGROUND
X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teeth, and hypo- or anhidrosis, but the disease may also evoke other clinical problems. This study aimed at investigating the clinical course of XLHED in early childhood as the basis for an evaluation of the efficacy of potential treatments.
METHODS
25 children (19 boys and 6 girls between 11 and 35 months of age) with genetically confirmed XLHED were enrolled in a long-term natural history study. Clinical data were collected both retrospectively using parent questionnaires and medical records (pregnancy, birth, infancy) and prospectively until the age of 60 months. General development, dentition, sweating ability, ocular, respiratory, and skin involvement were assessed by standardized clinical examination and yearly quantitative surveys.
RESULTS
All male subjects suffered from persistent anhidrosis and heat intolerance, although a few sweat ducts were detected in some patients. Sweating ability of girls with XLHED ranged from strongly reduced to almost normal. In the male subjects, 1-12 deciduous teeth erupted and 0-8 tooth germs of the permanent dentition became detectable. Tooth numbers were higher but variable in the female group. Most affected boys had no more than three if any Meibomian glands per eyelid, most girls had fewer than 10. Many male subjects developed additional, sometimes severe health issues, such as obstructive airway conditions, chronic eczema, or dry eye disease. Adverse events included various XLHED-related infections, unexplained fever, allergic reactions, and retardation of psychomotor development.
CONCLUSIONS
This first comprehensive study of the course of XLHED confirmed the early involvement of multiple organs, pointing to the need of early therapeutic intervention.
中文翻译:
X连锁少汗型外胚层发育不良的自然史:5年的随访研究。
背景技术X连锁的多汗性外胚层皮肤异型增生(XLHED)是由EDA基因的致病变异引起的,该基因变异破坏了外胚层衍生物的产前发育。主要症状是发育不良,牙齿缺失和汗湿或汗湿不足,但该病也可能引起其他临床问题。这项研究旨在调查儿童早期XLHED的临床过程,作为评估潜在治疗效果的基础。方法一项长期的自然史研究纳入了25名经基因证实的XLHED的儿童(19名男孩和6名女孩,年龄在11至35个月之间)。使用父母问卷和病历(妊娠,出生,婴儿)回顾性收集临床数据,并前瞻性收集直至60个月大。总体发育,牙列,出汗能力,眼睛,通过标准化的临床检查和年度定量调查评估呼吸和皮肤受累情况。结果所有男性受试者均患有持续性汗湿症和热不耐症,尽管在某些患者中发现了一些汗管。XLHED女孩的出汗能力从强烈降低到几乎正常。在男性受试者中,可检测出1-12颗乳牙,并且可检测到永久牙列的0-8牙菌。女性组的牙齿数量较高,但变化较大。多数受影响的男孩每眼睑有不超过三个睑板腺,大多数女孩少于10个。许多男性受试者出现了其他的,有时是严重的健康问题,例如阻塞性呼吸道疾病,慢性湿疹或干眼症。不良事件包括各种与XLHED相关的感染,无法解释的发烧,过敏反应和精神运动发育迟缓。结论这项对XLHED病程的首次综合研究证实了多个器官的早期介入,指出需要早期治疗干预。
更新日期:2020-01-11
中文翻译:
X连锁少汗型外胚层发育不良的自然史:5年的随访研究。
背景技术X连锁的多汗性外胚层皮肤异型增生(XLHED)是由EDA基因的致病变异引起的,该基因变异破坏了外胚层衍生物的产前发育。主要症状是发育不良,牙齿缺失和汗湿或汗湿不足,但该病也可能引起其他临床问题。这项研究旨在调查儿童早期XLHED的临床过程,作为评估潜在治疗效果的基础。方法一项长期的自然史研究纳入了25名经基因证实的XLHED的儿童(19名男孩和6名女孩,年龄在11至35个月之间)。使用父母问卷和病历(妊娠,出生,婴儿)回顾性收集临床数据,并前瞻性收集直至60个月大。总体发育,牙列,出汗能力,眼睛,通过标准化的临床检查和年度定量调查评估呼吸和皮肤受累情况。结果所有男性受试者均患有持续性汗湿症和热不耐症,尽管在某些患者中发现了一些汗管。XLHED女孩的出汗能力从强烈降低到几乎正常。在男性受试者中,可检测出1-12颗乳牙,并且可检测到永久牙列的0-8牙菌。女性组的牙齿数量较高,但变化较大。多数受影响的男孩每眼睑有不超过三个睑板腺,大多数女孩少于10个。许多男性受试者出现了其他的,有时是严重的健康问题,例如阻塞性呼吸道疾病,慢性湿疹或干眼症。不良事件包括各种与XLHED相关的感染,无法解释的发烧,过敏反应和精神运动发育迟缓。结论这项对XLHED病程的首次综合研究证实了多个器官的早期介入,指出需要早期治疗干预。