HEREDITARY GENERALIZED AMYLOIDOSIS WITH POLYNEUROPATHY - CLINICOPATHOLOGICAL STUDY OF 65 JAPANESE PATIENTS
HEREDITARY GENERALIZED AMYLOIDOSIS WITH POLYNEUROPATHY - CLINICOPATHOLOGICAL STUDY OF 65 JAPANESE PATIENTS
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DOI：
10.1093/brain/110.2.315
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发表时间：
1987-04-01
期刊：
影响因子：
14.5
通讯作者：
YOKOTA, T
中科院分区：
文献类型：
--
作者：
IKEDA, SI;HANYU, N;YOKOTA, T
对来自日本长野县一个小地区的65例遗传性泛发性淀粉样变性伴多发性神经病患者进行了临床病理学研究，以阐明该病的临床多样性。45例来自小川村的患者表现出相似的临床特征。发病年龄16 ~ 62岁。主要的神经系统表现是多发性神经病开始在腿和自主神经功能障碍。在晚期，下颅神经也受到影响。严重的心脏和肾脏受累并不常见。所有这些临床特征与I型家族性淀粉样多发性神经病（FAP）一致。其余20例患者来自5个无关的亲属表现出独特的临床图片。来自小川村的两个家庭患有I型FAP，但5名受影响的患者中有4名从早期就表现出明显的肾病伴大量蛋白尿。在另外三个家族中，有一个家族有10名患者，以中枢神经系统受累而闻名。除了感觉运动和自主神经周围神经病变外，大多数患者还表现出小脑共济失调和锥体束征。另一个家族有2个兄弟姐妹，他们从一开始就患有严重的淀粉样心脏病，并在晚期发展为具有自主神经功能的多发性神经病。在第三个家庭中，发病发生在第六个十年的所有3名患者和过程中的2个是轻度的，虽然临床特征是典型的I FAP。免疫组化结果显示，四种异常临床表型患者的淀粉样纤维蛋白均与血浆前白蛋白有关。在日本，遗传性泛发性淀粉样变性最常见的形式是I型FAP，但该疾病在发病年龄上表现出相当大的变化，并且比以前认识到的涉及更多的全身器官。新认识到的遗传性泛发性淀粉样变性伴严重淀粉样心脏病或中枢神经功能障碍的临床形式表明遗传性淀粉样变性伴多发性神经病的临床异质性。
A clinicopathological study was made on 65 patients from a small area of Nagano Prefecture, Japan, with hereditary generalized amyloidosis with polyneuropathy to clarify the clinical variety of the disease. Forty-five patients from Ogawa village showed similar clinical features. The age of onset ranged widely from 16 to 62 years. The main neurological manifestations were polyneuropathy starting in the legs and autonomic dysfunction. Lower cranial nerves were also affected in the advanced stages. Severe cardiac and renal involvement was uncommon. All these clinical features are consistent with type I familial amyloid polyneuropathy (FAP). The remaining 20 patients from five unrelated kinships showed unique clinical pictures. Two families from Ogawa village had type I FAP, but 4 out of the 5 affected patients showed marked nephropathy with heavy proteinuria from an early stage. Of the three other families, one, with 10 patients, was notable for the involvement of the central nervous system. Most of the patients showed cerebellar ataxia and pyramidal tract signs in addition to a sensorimotor and autonomic peripheral neuropathy. Another family had 2 siblings who had severe amyloid heart disease from the onset and developed polyneuropathy with autonomic features at an advanced stage. In the third family, onset occurred in the sixth decade in all 3 patients and the course was mild in 2, although the clinical features were those of typical I FAP. Immunohistochemical study revealed that the amyloid fibril proteins in the patients with all four unusual clinical phenotypes were related to plasma prealbumin. The most common form of hereditary generalized amyloidosis in Japan is type I FAP, but the disease shows considerable variety in the age of onset and involves more systemic organs than previously recognized. The newly recognized clinical forms of hereditary generalized amyloidosis with severe amyloid heart disease or central nervous dysfunction indicate clinical heterogeneity of hereditary amyloidosis with polyneuropathy.