直腸生検により診断された家族性原発性アミロイドージスの1家系

A Family of Hereditary Primary Amyloidosis Diagnosed by Rectal Biopsy

はじめに

　アミロイドージスは剖検により診断されることが多く，生前診断の困難な疾患のひとつとされているが，近年，生検診断の発達により生前診断の報告例を次第に増してきた¹⁾．筆者らは最近，熊本県荒尾地区において，直腸生検により家族性原発性アミロイドージスの1家系を診断し得たので報告する．

　A family, who had generalized gastrointestinal, cardiac, renal and neurological symptoms, were diagnosed as of hereditary primary amyloidosis by the aid of rectal biopsy. All of the patients reside in Arao City, Kumamoto, Japan.

　One of the patients Case 1., began to complain of edema, hoarseness and palpitation at the age of 43. At that time, proteinuria, cardiomegaly and abnormal electrocardiogram were noticed.

Two years later, she noted epigastralgia, nausea, constipation or diarrhea and paresthesia of the lower extremities. These symptoms were observerl in other patients of the family as shown in Table 1, and were slowly progressive in spite of various therapies. Laboratory examination revealed proteinuria, dysproteinemia, increase in protein concentration of the cerebrospinal fluids and electrocardiographic abnormalities in some of the patients. Rectal biopsy demonstrated amyloid deposits surrounding small bloocl vessels in the submucosa. (Table 2 and Figure 4. 5)

　The pedigree made it clear that this familial primary amyloidosis had an autosomal dominant inheritance. (Figure 1)

　The classification of primary amyloidosis, gastrointestinal symptoms of amyloidosis and rectal biopsy for its diagnosis are discussed.