对患有特发性 Addison 病的男性进行肾上腺脑白质营养不良检测的重要性。
The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease.
作者信息
Ronghe M D, Barton J, Jardine P E, Crowne E C, Webster M H, Armitage M, Allen J T, Steward C G
机构信息
Department of Haematology/Oncology, Royal Hospital for Children, Upper Maudlin Street, Bristol BS2 8BJ, UK.
出版信息
Arch Dis Child. 2002 Mar;86(3):185-9. doi: 10.1136/adc.86.3.185.
X linked adrenoleucodystrophy (X-ALD) is considered to be a rare cause of Addison's disease, although several small series suggest a high incidence in young Addisonian males. A survey in the south west of England identified 12 male patients diagnosed with Addison's disease in the period 1987-99. In 10 of these (83%) X-ALD was the underlying cause; the other two were of autoimmune aetiology. Five boys had developed Addison's disease subsequent to the diagnosis of X-ALD. Of the remaining five, in three boys the diagnosis of X-ALD was considerably delayed (by six months to two years from that of Addison's disease) and in two it was only made as a result of this survey. We also identified a patient who presented with Addison's disease at the age of 5 years but was only diagnosed as having X-ALD at the age of 34 years; in the interim his diagnosis of adrenomyeloneuropathy had been missed. Our experience highlights the absolute necessity of measuring very long chain fatty acids in all males with idiopathic Addison's disease.
X连锁肾上腺脑白质营养不良（X-ALD）被认为是艾迪生病的罕见病因，尽管一些小规模研究表明年轻的艾迪生病男性患者中发病率较高。英格兰西南部的一项调查发现，在1987年至1999年期间有12名男性患者被诊断为艾迪生病。其中10例（83%）的潜在病因是X-ALD；另外两例是自身免疫性病因。5名男孩在被诊断为X-ALD后患上了艾迪生病。在其余5名男孩中，3名男孩的X-ALD诊断被大大延迟（比艾迪生病诊断延迟6个月至2年），另外2名男孩只是由于这项调查才得以确诊。我们还发现一名患者，他5岁时出现艾迪生病症状，但直到34岁才被诊断为患有X-ALD；在此期间，他的肾上腺脊髓神经病诊断被漏诊。我们的经验凸显了对所有特发性艾迪生病男性患者检测极长链脂肪酸的绝对必要性。
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