Clarke A, Phillips D I, Brown R, Harper P S
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff.
Arch Dis Child. 1987 Oct;62(10):989-96. doi: 10.1136/adc.62.10.989.
Boys with X-linked hypohidrotic ectodermal dysplasia and their families were studied. Many suffered severe illness in early childhood and nearly 30% died; many had feeding problems, severe fever, atopic disease, and recurrent respiratory infections. Some infants failed to thrive. We found no consistent common endocrine or immunological abnormality, although, most had abnormal immunoglobulin production. This may be related to the abnormal mucosa of the gastrointestinal and respiratory tracts which exacerbates the chronic obstructive airways disease found later in life in those who smoke. Mental handicap was not a feature, although convulsions sometimes occurred during fever. Early diagnosis is important to avoid attacks of severe fever and so that rational management may be planned for other problems that arise. Dental advice should be sought before school age and genetic counselling may also be required. Many female carriers may be recognised at clinical examination: their affected sons can then be diagnosed more readily.
对患有X连锁隐性少汗型外胚层发育不良的男孩及其家庭进行了研究。许多男孩在幼儿期患有严重疾病，近30%死亡；许多人有喂养问题、高热、特应性疾病和反复呼吸道感染。一些婴儿发育不良。我们未发现一致的常见内分泌或免疫异常，尽管大多数人免疫球蛋白产生异常。这可能与胃肠道和呼吸道黏膜异常有关，后者会加重那些吸烟者在晚年出现的慢性阻塞性气道疾病。虽然发热时有时会发生惊厥，但智力障碍并非其特征。早期诊断对于避免高热发作以及为出现的其他问题制定合理的管理方案很重要。应在学龄前提早寻求牙科建议，可能还需要进行遗传咨询。许多女性携带者可在临床检查中被识别出来：这样她们患病的儿子就能更容易地被诊断出来。
