Böck A, Simbruner G
Universitätsklinik für Kinderheilkunde, Wien.
Monatsschr Kinderheilkd. 1993 Oct;141(10):782-5.
A previously healthy 2 year old female child developed fever of unknown origin recurring in monthly cycles. The periodic fever attacks, family history and ethnologic criteria were in agreement with familial mediterranean fever, although further more major symptoms were missing. It was highly unusual to find repeatedly raised levels of angiotensin I converting enzyme, a finding previously not described in literature. Excluding any other differential diagnosis by intensive investigations, together with a positive metaraminol provocation test, the diagnosis of a rare, monosymptomatic variant of familial mediterranean fever was proposed. Amyloidosis was excluded by rectal biopsy. Monosymptomatic familial mediterranean fever is very seldom. We suggest to measure routinely angiotensin I converting enzyme for further evaluation of our findings.
一名既往健康的2岁女童出现不明原因的发热，呈每月周期性发作。尽管缺乏更多主要症状，但周期性发热发作、家族史和人种学标准均符合家族性地中海热。反复发现血管紧张素I转换酶水平升高，这一发现此前未见文献报道，极为罕见。通过深入检查排除了所有其他鉴别诊断，并结合间羟胺激发试验阳性，提出诊断为一种罕见的家族性地中海热单症状变异型。直肠活检排除了淀粉样变性。单症状家族性地中海热非常罕见。我们建议常规检测血管紧张素I转换酶，以进一步评估我们的发现。
