Familial amyloidotic polyneuropathy in hokkaido: A case report.
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概要
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A 54-year-old man began to feel numbness in his hands at the age of 42 (1975). His condition became progressively worse accompanied by muscle weakness of the lower limbs and glove and stocking paresthesia of the extremities. The patient was admitted to our hospital on March 23, 1987. Neurological examination revealed distal dominant muscle weakness, sensory disturbance and areflexia. Electrocardiogram and ultrasoundcardiogram strongly suggested cardiomyopathy. A biopsy of the rectal wall and the cardiac muscle revealed amyloid deposits. The patient, his elder brother and one of his daughters had abnormal serum transthyretin (TTR, a protein referred as prealbumin). Therefore, the diagnosis of familial amyloidotic polyneuropathy (FAP) was confirmed. The patient's brother and daughter mentioned above, however, had no abnormal findings on physical examination and they were thus considered to be asymptomatic carriers. There maybe more cases of asymptomatic carriers, if examination of abnormal TTR is more frequently analyzed.
- 社団法人 日本内科学会の論文
社団法人 日本内科学会 | 論文
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