Peden N R, Gay J D, Jung R T, Kuwayti K
Q J Med. 1986 Feb;58(226):167-80.
We describe five patients with Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). Three of the patients appear to have had very gradual onset of diabetes mellitus at an early age yet all patients when tested for C-peptide response to glucagon were severely deficient. All patients are registered blind from primary optic atrophy, two have severe hearing difficulties and three high tone sensorineural hearing loss on audiometry. Four patients have cranial diabetes insipidus which in two cases is partial and of gradual onset and was attributed to poor control of the diabetes mellitus. In one case treatment of the insipidus relieved enuresis. All five patients have evidence of dilatation of the urinary tract and one patient is managed in the long-term by self-catheterisation which has resulted in one episode of bacteraemia. One patient has marked testicular atrophy and investigation reveals this to be due to primary hypogonadism and not to hypothalamic-pituitary dysfunction. One female patient had her menarche delayed until the age of 19 years but has subsequently had the only successful pregnancy in a patient with this syndrome of which we are aware.
我们描述了5例沃夫勒姆综合征（尿崩症、糖尿病、视神经萎缩和耳聋）患者。其中3例患者在幼年时糖尿病发病似乎非常隐匿，但所有患者在接受胰高血糖素C肽反应测试时均严重缺乏。所有患者均因原发性视神经萎缩而失明，2例有严重听力障碍，3例经听力测定为高音调感音神经性听力损失。4例患者患有颅性尿崩症，其中2例为部分性且起病隐匿，归因于糖尿病控制不佳。在1例患者中，尿崩症的治疗缓解了遗尿症。所有5例患者均有尿路扩张的证据，1例患者长期通过自我导尿进行处理，这导致了1次菌血症发作。1例患者有明显的睾丸萎缩，检查显示这是由于原发性性腺功能减退，而非下丘脑-垂体功能障碍。1例女性患者月经初潮延迟至19岁，但随后成功怀孕，据我们所知，这是该综合征患者中唯一成功的妊娠案例。
