Table Of ContentCurrent Topics in
Environmental Health and Preventive Medicine
Masakazu Washio
Gen Kobashi
Editors
Epidemiological
Studies of
Specified Rare
and Intractable
Disease
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Masakazu Washio • Gen Kobashi
Editors
Epidemiological Studies
of Specified Rare and
Intractable Disease
Editors
Masakazu Washio Gen Kobashi
St. Mary’s College Dokkyo Medical University
Kurume Mibu
Fukuoka Tochigi
Japan Japan
ISSN 2364-8333 ISSN 2364-8341 (electronic)
Current Topics in Environmental Health and Preventive Medicine
ISBN 978-981-13-1095-9 ISBN 978-981-13-1096-6 (eBook)
https://doi.org/10.1007/978-981-13-1096-6
Library of Congress Control Number: 2018951099
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Preface
“Nanbyo” (i.e., rare intractable diseases) may be a heavy burden not only on the
patients but also on their family members because these diseases have few estab-
lished therapies yet, usually develop chronically, and often lead to great disabilities.
The Japanese government has been promoting research on the etiology and treat-
ment of “Nanbyo” in order to detect the causes of these diseases. Consequently,
several epidemiological studies have revealed new findings, which suggest clues to
understand the pathogeneses of “Nanbyo.”
We are glad to have the great opportunity to introduce these findings through this
book. We hope that this book will serve as one of the useful resources for all health-
care workers who treat and care “Nanbyo,” as well as researchers who are interested
in “Nanbyo” and its epidemiology.
Kurume, Fukuoka, Japan Masakazu Washio
Mibu, Tochigi, Japan Gen Kobashi
v
Contents
1 Introduction of Epidemiological Studies of “Nanbyo” . . . . . . . . . . . . 1
Masakazu Washio and Yutaka Inaba
2 Risk Factors for Ossification of Posterior
Longitudinal Ligament . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15
Mitsumasa Umesawa, Koji Uchiyama, Hiroshi Taneichi,
and Gen Kobashi
3 Descriptive and Analytic Epidemiology of Idiopathic
Osteonecrosis of the Femoral Head in Japan . . . . . . . . . . . . . . . . . . . . 33
Wakaba Fukushima
4 Risk Factors in Amyotrophic Lateral Sclerosis . . . . . . . . . . . . . . . . . . 47
Kazushi Okamoto
5 Case-Control Study of Idiopathic Parkinson’s
Disease in Japan . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 61
Keiko Tanaka and Yoshihiro Miyake
6 Descriptive and Analytic Epidemiology of Idiopathic
Normal Pressure Hydrocephalus (iNPH) in Japan . . . . . . . . . . . . . . . 83
Nagato Kuriyama, Masakazu Miyajima, Madoka Nakajima,
Takeo Kato, Michiko Kurosawa, Wakaba Fukushima,
Takahiko Tokuda, Yoshiyuki Watanabe, Etsuko Ozaki,
Teruhide Koyama, Daisuke Matsui, Isao Watanabe, and Hajime Arai
7 Case-Control Study of Idiopathic Pulmonary Fibrosis in Japan . . . . 103
Yoshihiro Miyake
8 Epidemiology of Ulcerative Colitis in Japan . . . . . . . . . . . . . . . . . . . . 117
Satoko Ohfuji
9 Epidemiology of Crohn’s Disease in Japan . . . . . . . . . . . . . . . . . . . . . 133
Koji Uchiyama, Mitsumasa Umesawa, Yasuo Haruyama,
Toshimi Sairenchi, and Gen Kobashi
vii
viii Contents
10 The Role of Gene–Environment Interaction
in the Etiology of SLE . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 147
Chikako Kiyohara and Masakazu Washio
11 Epidemiological Studies of Specified Rare
and Intractable Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 163
Naoyasu Ueda and Takahiko Horiuchi
Chapter 1
Introduction of Epidemiological Studies
of “Nanbyo”
Masakazu Washio and Yutaka Inaba
Abstract “Nanbyo” in Japanese is commonly used in the Japanese society to refer
to so-called “intractable diseases.” In this chapter, we would like to introduce
“Nanbyo” and the role of the Research Committee of the Epidemiology of “Nanbyo.”
In 1972, the Japanese government began systemic countermeasures against
“Nanbyo.” Since then, the government has been promoting research on “Nanbyo.”
The Research Committee of the Epidemiology of “Nanbyo” was first organized in
1976. Because “Nanbyo” are diseases of low incidence and patients are scattered all
over Japan, epidemiologists and clinicians work together to prevent laborious work
as well as to save cost, and epidemiologists have many precious experiences by
working with clinicians. Furthermore, younger epidemiologists are able to learn
how to conduct epidemiological studies from senior epidemiologists of other uni-
versities and research institutes all over Japan. Although the involvement of epide-
miologists was much lower in Japan than in the United Kingdom and the United
States, based on the success experience of “Nanbyo,” the government promotes
collaborative studies with epidemiologists and clinicians to investigate not only
“Nanbyo” but also other research subjects.
Keywords Nanbyo (intractable diseases) · Epidemiology
M. Washio (*)
Department of Community Health and Clinical Epidemiology, St. Mary’s College,
Kurume City, Fukuoka, Japan
e-mail: [email protected]
Y. Inaba
Department of Epidemiology and Environmental Health, Juntendo University Faculty
of Medicine, Bunkyo-ku, Tokyo, Japan
e-mail: [email protected]
© Springer Nature Singapore Pte Ltd. 2019 1
M. Washio, G. Kobashi (eds.), Epidemiological Studies of Specified Rare and
Intractable Disease, Current Topics in Environmental Health and Preventive
Medicine, https://doi.org/10.1007/978-981-13-1096-6_1
2 M. Washio and Y. Inaba
1.1 What Is “Nanbyo”?
“Nanbyo” in Japanese is commonly used in the Japanese society to refer to so-
called “intractable diseases,” diseases which are not medically or clearly defined [1,
2]. Since the diagnosis of “intractable diseases” may depend on the level of health
care and the social state of affairs in a country at that time, infectious diseases such
as dysentery, cholera, and tuberculosis were categorized as “intractable diseases” at
a time when there was neither sufficient health care nor effective treatment in Japan.
Improvement of public health and advances in medicine after World War II have
given Japan one of the highest life expectancies in the world (i.e., 80.8 years old for
men and 87.1 years old for women in 2015) [2]. With dramatically improved health
care and medical care, the abovementioned infectious diseases can now be treated,
and are no longer considered intractable. However, some diseases remain difficult
to treat and easily become chronic; these are the kind of diseases that are now
referred to as “Nanbyo” in Japan [1, 2]. According to the definition of “Nanbyo”
published by the Japanese Ministry of Health and Welfare in 1972 [1, 2], “Nanbyo”
refers to:
(1) diseases whose cause has not yet been detected and for which there is no estab-
lished therapy, and which may have a considerably high risk of disability (e.g.,
Behçet’s disease, myasthenia gravis, aplastic anemia, and malignant rheuma-
toid arthritis) [1, 2],
and
(2) diseases that chronically developed and require a significant amount of labor
for the patient’s care, causing a heavy burden on other family members of the
patient, both financially and mentally (e.g., pediatric cancer, pediatric chronic
nephritis, pediatric asthma, progressive muscular dystrophy, and renal insuffi-
ciency of dialysis patients) [1, 2].
1.2 Measures against “Nanbyo”
After World War II, in Japan, acute infectious diseases decreased with the improve-
ment of public health and the progress in medicine while chronic diseases such as
cancers and cardiovascular diseases increased [2]. Although various countermea-
sures were taken against cancers, cardiovascular diseases, infantile chronic diseases,
and severe mental and physical disabilities, a national counterplan against “Nanbyo”
was not sufficiently systematized due to obscure etiologies and strange clinical fea-
tures [3].
Subacute myelo-optico-neuropathy (SMON), which was prevalent throughout
Japan towards the end of 1960s, was the first “Nanbyo” in Japan [2–5]. The Japanese
government organized task-force research groups for SMON consisting of clini-
cians, pathologists, neurologists, microbiologists, chemists, pharmacologists,
