高齢発症の家族性アミロイドポリニューロパチー(FAP) type Iの1例

概要

論文の詳細を見る
Familial amyloid polyneuropathy (FAP) type I was found in a 69-year-old man presenting with sensorimotor polyneuropathy. The patient was born in Kanagawa Prefecture and had no family history of peripheral nerve disease. At 66 he had tingling and numbness of the feet and weakness in the legs but no apparent dysfunction of the autonomic nerve. Numbness and weakness progress in all limbs and at 69 the patient had mild postural syncope associated with orthostatic hypotension. By histological and ultrastructural examination, marked deterioration of sural nerve fibers was disclosed, along with amyloid deposition. Primary amyloidosis was suspected. However, DNA blotting a variant prealbumin gene was found, indicating familial amyloid polyneuropathy (FAP) type I. By DNA analysis, FAP type I was also found in two family members (sister, 70, daughter, 38) though neither had any clinical or symptomatic indications of peripheral neuropathy or autonomic nerve disturbance. To date, FAP was associated with regions other than Kanagawa, but no relationship was found between the present family and other patient of FAP in Japan. Moreover, onset of the disease more commonly occurs by age 30. In view of subclinical and atypical signs of the disease, as shown by the present case, FAP may evade conventional diagnostic measures. DNA analysis is deemed essential to the reliable diagnosis of familial amyloid polyneuropathy.
北里大学の論文
1992-08-31