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A Family of Hereditary Primary Amyloidosis Diagnosed by Rectal Biopsy Mitsuo Kozuru 1 1Third Department of Internal Medicine, Faculty of Medicine, Kyushu University pp.381-386
Published Date 1970/3/25
DOI https://doi.org/10.11477/mf.1403111236
  • Abstract
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 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.


Copyright © 1970, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1219 印刷版ISSN 0536-2180 医学書院

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