Ohnishi A, Yamamoto T, Murai Y, Ando Y, Ando M, Hoshii Y, Ikeda M
Department of Neurology, School of Medicine, Institute of Industrial Ecological Sciences, University of Occupational and Environmental Health, Kitakyushu, Japan.
Neurology. 1998 Sep;51(3):714-21. doi: 10.1212/wnl.51.3.714.
To study the alterations in the structure and innervation of eccrine glands in familial amyloidotic polyneuropathy (FAP) type I with Val 30 Met transthyretin mutation.
Anhidrosis of the distal lower limbs is a prominent feature of FAP type I.
Qualitative and morphometric study of amyloid deposition, eccrine glands, and their innervation in nine patients with FAP type I (duration of sensory symptoms, 8.4 +/- 3.9 years [mean +/- SD]; range, 3 to 15 years) and seven control subjects.
On light microscopy, the endoneurium of cutaneous nerve fascicles had no definite amyloid deposition. Amyloid deposition was observed around eccrine glands in seven of nine patients. On electron microscopy, no focal destruction and degeneration of eccrine glands or ducts and of Schwann cell processes with or without nerve terminals or unmyelinated axons were observed in relation to adjacent amyloid deposition. Secretory vacuoles and granules of dark cells were markedly decreased in some secretory coils. Nerve terminals and unmyelinated axons of eccrine glands were considerably fewer in patients than in control subjects, and denervation was prominent in all patients. A few nerve terminals and unmyelinated axons of eccrine glands were present in patients who had experienced sensory symptoms for 3, 5, and 6 years, but were absent in patients with sensory symptoms for more than 7 years.
Eccrine glands are markedly to totally denervated in patients with FAP type I and chronic sensory symptoms. The extent of denervation indicates the severity of autonomic denervation and therefore may suggest the timing of liver transplantation.
研究伴有缬氨酸30蛋氨酸转甲状腺素蛋白突变的Ⅰ型家族性淀粉样多神经病（FAP）中小汗腺的结构和神经支配变化。
下肢远端无汗是Ⅰ型FAP的一个突出特征。
对9例Ⅰ型FAP患者（感觉症状持续时间为8.4±3.9年[平均值±标准差]；范围为3至15年）和7名对照者的淀粉样蛋白沉积、小汗腺及其神经支配进行定性和形态计量学研究。
在光学显微镜下，皮肤神经束的神经内膜无明确的淀粉样蛋白沉积。9例患者中有7例在小汗腺周围观察到淀粉样蛋白沉积。在电子显微镜下，未观察到与相邻淀粉样蛋白沉积相关的小汗腺或导管以及施万细胞突起（有或无神经末梢或无髓轴突）的局灶性破坏和变性。一些分泌盘曲部的暗细胞分泌泡和颗粒明显减少。FAP患者小汗腺的神经末梢和无髓轴突比对照者明显减少，且所有患者均有明显的去神经支配。病程3年、5年和6年的FAP患者有少量小汗腺神经末梢和无髓轴突，但病程超过7年的患者则无。
Ⅰ型FAP且有慢性感觉症状的患者，小汗腺明显至完全去神经支配。去神经支配的程度表明自主神经去神经支配的严重程度，因此可能提示肝移植的时机。
