Blöndal H, Guomundsson G, Benedikz E, Jóhannesson G
Inst för anatomi och patologi, Islands Universitet, Reykjavik.
Nord Med. 1990;105(3):76-7, 81.
Nineteen cases of hereditary cystatin C amyloidosis with cerebral haemorrhage are described. The first haemorrhage occurred between the ages of 20 and 41 years and the period of survival varied from 10 days to 23 years after the first insult. Progressive dementia was a striking clinical symptom in 17 of the patients and in two cases dementia was the first sign. At the last examination severe dementia and pronounced pathological EEG were established in the majority of the patients. Infiltration of amyloid substance positive for anti-cystatin C was found in the proximity of the blood vessels and in their walls. Lesions in the cerebral microvascular system together with haemorrhages and infarcts caused thereby were considered to be an adequate explanation of the dementia in these patients. In view of the discovery of amyloid discharges in tissues outside the CNS it is adjudged more correct to use the name Hereditary Cystatin C Amyloidosis (HCCA).
本文描述了19例伴有脑出血的遗传性胱抑素C淀粉样变性病。首次出血发生在20至41岁之间，首次发病后存活时间从10天到23年不等。进行性痴呆是17例患者的显著临床症状，2例患者以痴呆为首发症状。在最后一次检查时，大多数患者出现严重痴呆和明显的病理性脑电图。在血管及其壁周围发现了抗胱抑素C呈阳性的淀粉样物质浸润。脑微血管系统的病变以及由此引起的出血和梗死被认为是这些患者痴呆的充分解释。鉴于在中枢神经系统以外的组织中发现了淀粉样物质沉积，因此认为使用遗传性胱抑素C淀粉样变性病（HCCA）这一名称更为恰当。
