末梢性ノイロパチーを主徴とした家族性原発性アミロイドージス—1家系10例の自験例を中心とした文献的考察

PERIPHERAL NEUROPATHY IN A FAMILIAL PRIMARY AMYLOIDOSIS:A Study of Ten Cases in a Pedigree with a Review of the Literature

I．はじめに

　Amyloidosisとは，稀な原因不明の系統的疾患であり，病理学的には非定型的なhyaline様のamyloid物質が身体の種々の間葉性組織に沈着することを特徴とし，臨床的には多彩な症状を呈する。臨床病理学的立場から，amyloidosisは，原発性，続発性（通常慢性炎症疾患に伴つておこるもの），多発性骨髄腫に伴うもの，および腫瘍形成性のものなどに大別されている。

　さて，原発性amyloidosisにおける神経系の障害は，一般に中枢神経系のものは少なく，主として末梢神経系のものであり，孤発性のものより遺伝性のものに多く見られる^1）。かかる遺伝性原発性amyloidosisの報告は，文献上比校的少なく，Ostertag^2）が最初に報告して以来，Andrade^3），Kantarjianら^4），Rukavinaら^5），Schle—singerら^1），Kaufmanら^6）などが報告しており，以来本症は原因不明の進行性の末梢神経障害の一因として，その存在が注目されている。

This paper deals with a study of a patient and 9 members in his family in whom peripheral neuro-pathy due to primary amyloidosis was quite promi-nent.

(1) Almost all of the members of the family reside in the Arao City or in the suburbs, Kuma-moto, Japan. The family consists of about 70 mem-bers for 4 generations. Alived patients are 12,and the dead with similar illness were 13, being totally 25, which represents the second largest group of genetically related individuals with primary amy-loidosis reported before in the known literatures.

(2) Clinical manifestations of the examined 10 patients are as follows ; 1) Ages of the onset of the symptoms were from 30 to 47, 2) Ratio of male to female was 4 to 6, 3) Initial symptoms were gas-trointestinal disturbance in 3 cases, paresthesia in the distal parts of the lower limbs in 4, simultaneous occurrence of the above symptoms in 2, and impo-tence in 1. 4) Main symptoms and signs at the time of the examination in Nov. 1967 were ; sensory loss in distal parts of lower limbs in 10 cases, trophic changes in 10, alternating diarrhea and con-stipations in 10, orthostatic hypotension in 7, urinary and fecal incontinence in 6, hoarseness in 6, and impotence in all of the male patients.

(3) Laboratory examinations revealed as follows; 1) Biopsy studies of the sural nerves, the skins and the rectum from 4 patients showed deposits of amy-loid substance in the specimens, 2) Electrocardio-graphic abnormalities, increased protein in the cere-brospinal fluid, decreased motor nerve conduction velocities, abnormal serum amino-acids by autoanal-yser were found but the biochemical abnormalities are still undetermined in this pedigree.

(4) The course of the illness has been slowly progressive, and none of the treatment were effective.

(5) The mode of the inheritance is an autosomal dominant pattern. Finally, the related literatures were reviewed and discussed.