Report of a case with val 30 met transthyretin type familial amyloid polyneuropathy. The first case from Yamaguchi prefecture.

The case is a 38-year-old man with slowly progressive painful dysesthesia on his feet of two-year history. He said his mother, born in Ohmuta, Fukuoka prefecture, had the same symptoms, had arrhythmia with implanted pacemaker, and died of renal failure. He had mild weakness of distal leg muscles and disturbed sensation of heat and pain below ankles, mildly impaired sensation of touch in his legs with preserved vibration sense. Tendon reflexes were mildly diminished. Electrocardiogram revealed QS pattern in anterior chest leads with left axis deviation. Sural nerve biopsy specimen showed moderate loss of myelinated fibers with amyloid deposits within the nerve fascicle. By immunohistochemistry method, deposits were of transthyretin origin. Blood specimen were sent to Third Department of Internal Medicine, Miyazaki Medical College for identification of transthyretin gene mutation, which revealed a point mutation of valine to methionine at codon 30. Although this case is not purely of Yamaguchi-borne because he had his ancestor in Fukuoka prefecture which is not far away from the endemic focus of FAP, Kumamoto, we believe it is worth reporting because this is the first proved case of FAP from Yamaguchi prefecture.

Familial amyloid polyneuropathy

Val 30 Met transthyretin type

本文データは山口大学医学会の許諾に基づきCiNiiから複製したものである