[肾上腺脊髓神经病。艾迪生病的常见病因]

[Adrenomyeloneuropathy. A frequent cause of Addison's disease].

作者信息

Schäfer J R, Ehlenz K, Steinmetz A, Pilz C, Hunneman D H, Baerwald C, von Wichert P, Kaffarnik H

机构信息

Abteilung für Endokrinologie und Stoffwechsel sowie Medizinische Poliklinik, Universität Marburg, sowie Universitäts-Kinderklinik, Göttingen.

出版信息

Dtsch Med Wochenschr. 1994 Mar 11;119(10):327-31. doi: 10.1055/s-2008-1058698.

DOI:10.1055/s-2008-1058698

PMID:8125035

Abstract

Adrenomyeloneuropathy (AMN) is a "milder form" of adrenoleukodystrophy with a X-linked inheritance. Abnormal catabolism of the very long-chain fatty acids (VLCFA) results in Addison's disease and spastic paraparesis. The VLCFA concentration was measured in 23 of 26 patients with Addison's disease (mean age 48.5 [20-75] years) being treated at the University Hospital Marburg during May, 1991. The concentration was elevated in four of the 12 men with the disease, while it was within normal limits in the 11 women. Only two patients had paraparesis-like neurological deficits. This finding suggests that AMN is not as rare as has been supposed. It is recommended that the concentration of VLCFA be measured in all patients with Addison's disease, because an increase could have important consequences.

摘要

肾上腺脑白质营养不良症（AMN）是一种具有X连锁遗传的“较轻形式”的肾上腺脑白质营养不良。极长链脂肪酸（VLCFA）的异常分解代谢会导致艾迪生病和痉挛性截瘫。1991年5月，在马尔堡大学医院接受治疗的26例艾迪生病患者（平均年龄48.5[20 - 75]岁）中，对23例患者的VLCFA浓度进行了测量。12例男性患者中有4例浓度升高，而11例女性患者的浓度在正常范围内。只有2例患者有类似截瘫的神经功能缺损。这一发现表明，AMN并不像人们认为的那样罕见。建议对所有艾迪生病患者测量VLCFA浓度，因为浓度升高可能会产生重要后果。