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Hidehiko Narazaki, Ken-ichi Yamaguchi, Tomoyuki Imagawa, Yuzaburo Inou ...
2020 Volume 11 Issue 1 Pages
3-
Published: 2020
Released on J-STAGE: October 06, 2021
JOURNAL
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(Objective) Because of the number of pediatric case with rheumatic disease are very rare, that can
be experienced in one institution is limited. We think that it is necessary to conduct registry research for the
diagnosis, treatment and research in the future under the initiative of the Pediatric Rheumatology Association
of Japan.
(Methods)This study is a retrospective observational study. Target diseases are juvenile idiopathic
arthritis, systemic lupus erythematosus, juvenile dermatomyositis, Sjogren’s syndrome, mixed connective
tissue disease, systemic scleroderma, etc. The database (PRICURE ver. 2) is built by FileMaker Cloud on
Amazon Web Services server and can be accessed with a common Web browser via an SSL connection.
(Results)There are 128 cases has been registered from 13 facilities at the end of February, 2020.
(Conclusion)Because there are still few participating facilities, the number of registered cases is also
small. In order to contribute to the diagnosis, treatment and research in the future, it is necessary to much more
increase registries for pediatric rheumatic patients.
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Tomohiro Kawabe, Takayuki Kishi Kishi, Michiru Adachi, Masayoshi Harig ...
2020 Volume 11 Issue 1 Pages
9-16
Published: 2020
Released on J-STAGE: October 06, 2021
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(Background)The Childhood Myositis Assessment Scale(CMAS) is a muscle strength assessment
index for pediatric idiopathic inflammatory myopathy focused on physical functions and endurances widely
applied in European and American Pediatric Rheumatology. CMAS can assess muscle strength changes
during the process of muscle strength recovery after successful treatment, including in the acute phase. So
far, it is not well known to Japanese medical practitioners. The lack of a Japanese version of CMAS is one of
the factors that led to the insufficient recognition of CMAS.
(PurposeTo translate the CMAS, a muscle strength index for idiopathic inflammatory myopathy in
children, into Japanese and validate it.
(Methods)The translation was performed by the study team. First, five medical practitioners who didn’t
know CMAS examined healthy subjects with the translated version, and the validity of the examinee’s
movements was assessed. Second, the examiners assessed movements of each maneuver with different score
presented randomly by the examinees. Both assessments were judged by physicians with actual experience
scoring CMAS in pediatric rheumatology practices in the United States.
(Results)The examinee’s movements and the scores of the movements were correct in most of the
assessments.
(Conclusion)The Japanese version of the CMAS was judged to be linguistically appropriate and can
be used as well as the original version.
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Yuki Kotani, Kohei Miyazaki, Takuji Enya, Yuichi Morimoto, Rina Oshima ...
2020 Volume 11 Issue 1 Pages
17-23
Published: 2020
Released on J-STAGE: October 06, 2021
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(Background)The lupus low disease activity state(LLDAS), a novel clinical treatment target, is
associated with the suppression of the progression of organ damage in systemic lupus erythematosus( SLE).
(Methods)This retrospective study evaluated the complete remission and LLDAS in patients with
SLE diagnosed in childhood and adolescence using their medical records.
(Results)Thirteen patients were included in the analysis. The median age at the onset was 12.4
years(range 8.9–16.1 years), and the female-to-male ratio was 11:2. The median current age was 24.5 years
(range 9.8-35.7 years). The average duration of the follow-up was 10.3 years (1-23.6 years). Nine(69%)
patients achieved an LLDAS, and four (31%) did not. The average LLDAS achievement period was 770
days( 140–1,735 days), and was achieved by 2 people within 6 months and 3 within 18 months. Four of those
five patients used steroid pulse therapy and tacrolimus as induction therapy. Four of the nine patients who
achieved an LLDAS were in a state of remission on therapy at the final observation.
(Conclusion)The immunosuppressant drug selected for the induction of a remission differed
depending on the timing of the onset of SLE, and as a result, it may be involved in the glucocorticoid
administration and LLDAS achievement periods.
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Aya Kato, Takayuki Kishi, Yumi Tani, Yoko Yamamoto, Toshihisa Tsuruta, ...
2020 Volume 11 Issue 1 Pages
24-29
Published: 2020
Released on J-STAGE: October 06, 2021
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The prevalence of thrombocytopenia has been reported 7 to 30% in patients with systemic lupus
erythematosus( SLE) and less than 15% of patients have thrombocytopenia as a first symptom of SLE. The
most common cause of secondary immune thrombocytopenic purpura (ITP) is SLE. Herein, we report 5
cases with childhood-onset SLE (cSLE) diagnosed following by thrombocytopenia. Four of the five cases
were girls and the age at disease onset was 5-14 years (median : 11 years of age). Skin rash on the lower
leg was recognized as the first manifestation in 2 cases. Thrombocytopenia was accidentally noticed by
examination for other diseases in the other 3 cases. All cases showed refractory thrombocytopenia and
referred to our hospital. The platelet count at the first visit of our hospital was as low as 1,000 to 93,000/μL.
All patients showed high anti-nuclear antibody titer and met the classification criteria for cSLE. The range
of SLE disease activity index score was 7 to 14, which indicated high disease activity. Four cases showed
positive for antiphospholipid antibody, and 2 met the diagnostic criteria for antiphospholipid syndrome
(APS). The intravenous glucocorticoid therapy or methylprednisolone pulse therapy was used for all
patients, and platelet count and disease activity of SLE were gradually improved. We concluded that
patients with refractory ITP should be performed an autoantibody testing for the possibility of SLE and
APS.
View full abstract
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Tadayasu Kawaguchi, Kosuke Shabana, Nami Okamoto, Yasuji Inamo Inamo
2020 Volume 11 Issue 1 Pages
30-35
Published: 2020
Released on J-STAGE: October 06, 2021
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【背景】抗Mi-2抗体陽性若年性皮膚筋炎(JDM)は,発症頻度は低いが一般にステロイド薬が有効で
予後がよい炎症性筋炎とされる.今回,我々はステロイド薬抵抗性抗Mi-2抗体陽性JDM 2例を経
験し,大量免疫グロブリン静注療法(IVIG)が有効であったので報告する.
【症例】症例1は,8歳女児で約2か月間にわたり,中等量ステロイド薬を投与したが,十分な筋力の
改善が得られず大量免疫グロブリン療法が有効であった.症例2は,5歳男児.4歳0か月に発症し,
ステロイドパルス療法4クールとメトトレキサート,アザチオプリン,シクロホスファミドパルス
療法などの治療を施行したが増悪を繰り返しており,5歳1か月時にIVIGを施行して,寛解維持が
可能となった.
【考察】抗Mi-2抗体陽性JDMは比較的均一な臨床症状を呈し,一般的にステロイド反応性は良好と
されているが,今回,明らかにステロイド薬抵抗性と考えられた症例を報告した.このようなス
テロイド薬抵抗性抗Mi-2抗体陽性筋炎では,第2選択薬としてIVIGが有用である可能性が示唆され
た.
View full abstract
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Riki Tanaka, Takayuki Kishi, Yumi Tani, Takako Miyamae, Masayoshi Hari ...
2020 Volume 11 Issue 1 Pages
36-43
Published: 2020
Released on J-STAGE: October 06, 2021
JOURNAL
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An 8-year-old girl developed muscle weakness localized in the thighs and upper extremities and had
difficulty walking. She had a skin rash, severe muscle weakness, elevated serum creatine kinase levels, and a low
score on the Childhood Myositis Assessment Scale. T2-weighted magnetic resonance imaging of the muscles
revealed lesions as signal high intensity consistent with myositis. Therefore, the patient was diagnosed with
juvenile dermatomyositis( JDM). She was treated with two courses of methylprednisolone pulse therapy, with no
improvement in symptoms, leading to the diagnosis of JDM-associated macrophage activation syndrome( MAS).
Accordingly, she showed elevated serum markers of tissue damage and ferritin with a decreased platelet count.
The low levels of serum interleukin-6 and interleukin-18 were inconsistent with MAS with systemic juvenile
idiopathic arthritis. Eventually, her symptoms alleviated in response to cyclosporine and dexamethasone palmitate
without flare. There have only been a few reports of JDM-associated MAS ; hence, its clinical features have not
been well-understood. For this patient, we had considered anti-melanoma differentiation-associated gene 5
autoantibody-positive JDM to have resulted in elevations of serum myogenic enzyme and ferritin, which might
have caused the delay in the diagnosis of MAS.
View full abstract
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Yuko Sugita, Nami Okamoto, Yuka Ozeki, Kosuke Shabana, Takeru Okuhira, ...
2020 Volume 11 Issue 1 Pages
44-50
Published: 2020
Released on J-STAGE: October 06, 2021
JOURNAL
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Takayasu arteritis( TA) and ulcerative colitis( UC) share many genetic factors, and coexistence of
both are not uncommon. We report a case of TA in a 11-year-old girl with UC.
She developed total colonic UC at the age of 8. While being treated with azathioprine (AZA) and
infliximab (IFX), pain in the interior thigh during exercise and increased CRP were observed from age 11
years and 2 months old. No exacerbation of UC was found in colonoscopy at that time. Subsequently, pyrexia
and malaise developed, and PET-CT showed accumulation in both subclavian arteries, leading to the
diagnosis of TA. Methylprednisolone pulse therapy was performed and the dose of AZA was increased as an
induction therapy. IFX was continued every 6 weeks. The vascular ultrasound findings worsened as the
dose of PSL was tapered and IFX was changed to tocilizumab( TCZ) at the age of 12 years and 1 months.
Thereafter, UC exacerbated and total colectomy was performed at the age of 12 years and 7 months. After
the operation, vascular ultrasound findings improved and PSL is being tapered without relapse.
TCZ is considered for maintenance therapy in PSL dependent TA patients, but efficacy of TCZ in
UC is unclear. Since the overlap of TA and UC is not uncommon, it is necessary to seek the optimum
treatment for TA with UC in the future.
View full abstract
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Keiji Akamine, Riku Hamada, Atsuko Anno, Wataru Shimabukuro, Shoichiro ...
2020 Volume 11 Issue 1 Pages
51-56
Published: 2020
Released on J-STAGE: October 06, 2021
JOURNAL
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Atlantoaxial rotatory fixation causes neck pain and torticollis in the atlantoaxial joint. Arthritis is
rarely the cause of atlantoaxial rotatory fixation, and in cases in which atlantoaxial rotatory fixation is the
initial symptom, juvenile idiopathic arthritis (JIA) is seldom considered in the differential diagnosis.
However, we report herein two cases of rheumatoid factor (RF) positive polyarticular JIA and enthesitis
related arthritis( ERA) which were both diagnosed during treatment for atlantoaxial rotatory fixation after
the patients presented arthritis in other joints. As far as we conducted good research, there were no such
case reports other than spondyloarthritis (SpA) which is characterized as enthesitis. Cytokines, such as
tumor necrosis factor( TNF), IL-17, and IL-23 are thought to play a role in the pathogenesis of SpA. TNF
inhibitor, which was previously reported more effective against spondyloarthritis than IL-6 inhibitor, also
proved in the present cases characterized as synovitis. TNF inhibitor was previously reported more
effective against spondyloarthritis than IL-6 inhibitor. Similarly, TNF inhibitor could be more useful than
IL-6 inhibitor not only for enthesitis but also JIA with cervical involvement characterized as synovitis.
View full abstract
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Yasuhisa Sakakibara, Ritsuyo Taguchi, Takehiko Sakai, Yoshihiro Tanigu ...
2020 Volume 11 Issue 1 Pages
57-61
Published: 2020
Released on J-STAGE: October 06, 2021
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While sarcoidosis is rare in childhood, it should be considered in any differential diagnosis of childhood
uveitis. Histological diagnosis of sarcoidosis requires both the pathologic evidence of non-caseating epithelioid
granulomas found on tissue biopsy and the exclusion of other diseases.
The case was a 14-year-old, Japanese girl. She had dry cough for about 2 weeks and bilateral conjunctival
hyperemia for about 5 weeks, and then diagnosed as uveitis. Swelling of lacrimal, parotid and submandibular
glands were not observed. Systemic close examinations showed decreased salivary secretion, low pulmonary
diffusion capacity. Chest CT examination detected a pulmonary nodule in the left lower lung and patchy
consolidations in both basal lungs. Gallium whole body scintigraphy revealed a characteristic pattern of uptakes
in the bilateral lacrimal, parotid and submandibular glands, which was called the panda sign, while uptakes
in the pulmonary lesions were not evident. Non-caseating epithelioid granulomas were detected on
parotid gland biopsy, then she was diagnosed as sarcoidosis histologically.
The panda sign on Gallium whole body scintigraphy is a typical and supportive sign for the diagnosis
of sarcoidosis and is useful for the selection of an appropriate biopsy site.
View full abstract
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Hitoshi Irabu, Natsumi Inoue, Mao Mizuta, Masaki Shimizu
2020 Volume 11 Issue 1 Pages
62-66
Published: 2020
Released on J-STAGE: October 06, 2021
JOURNAL
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A 14-year-old girl suspected as having Takayasu arteritis(TA) with hypertension found by
chance in workplace experience was referred to us. 18Ffluorodeoxy glucose positron emission
tomography (18FFDG-PET) revealed FDG uptakes in the aortic arch and bilateral internal carotid
artery, even though serological inflammation markers including CRP and ESR were all negative. Oral
prednisolone (PSL)(30mg/day) was started, and her clinical symptoms disappeared. One month after
starting PSL, FDG uptake on 18FFDG-PET remained significant, even though the patient had no
symptoms with negative inflammation markers. After tapering the PSL dosage to 20mg/day, the patient
showed exacerbation of disease. The dose of PSL was increased to 25mg/day, and tacrolimus was added.
Although the exacerbation had ceased, the patient clinically relapsed again after tapering the PSL
dosage to 22.5mg/day. Tocilizumab was added. Subsequently, remission was achieved and maintained
with 4mg/day of PSL. Serological inflammation markers are useful for the assessment of disease activity
in TA. However, in some patients, inflammation markers remain negative even in active phase, making
it difficult to assess disease activity. The 18FFDG-PET is useful for the assessment of disease activity
even in such patients with no elevation of inflammatory markers in active phase of TA.
View full abstract
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Kazushi Tsuruga, Azusa Sugita, Maki Matsumoto, Ayaka Fujioka, Akira Sa ...
2020 Volume 11 Issue 1 Pages
67-71
Published: 2020
Released on J-STAGE: October 06, 2021
JOURNAL
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We report the case of a 4-year-old boy with IgA vasculitis who developed a recurrence of IgA
vasculitis 6 months after its first episode. He had a high fever, severe abdominal symptoms, arthralgia, and a
marked increase in serum C-reactive protein(CRP) level (up to 22.18mg/dL). Thus, differentiation from
sepsis was needed. Abdominal sonography revealed thickening of the small intestinal wall, enlarged
mesenteric lymph nodes, and elevated echogenicity of mesenteric adipose tissue in the lower right abdomen.
He was diagnosed as having mesenteric lymphadenitis and panniculitis caused by recurrence of IgA
vasculitis, which required prednisolone administration. As sepsis could not be ruled out, an antibacterial drug
was administered after blood culture. Palpable purpura was observed in his lower extremities after the
clinical features promptly improved.
We speculate that the patient’s high fever and elevated serum CRP level resulted from the formation
of mesenteric lesions after the breakdown of the gut barrier by IgA vasculitis.
View full abstract
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Yuta Kawahara, Masahide Goto, Ayumu Matsumoto, Yukiko Oh, Tomomi Hayas ...
2020 Volume 11 Issue 1 Pages
72-78
Published: 2020
Released on J-STAGE: October 06, 2021
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Anti-dsDNA antibody plays a central role in the pathophysiology of systemic lupus erythematosus
(SLE), while SLE patients negative for anti-dsDNA antibody is rarely present. We investigated the
pathophysiology of anti-dsDNA antibody-negative SLE by performing targeted exome analysis. The case
was an 11-year-old girl, who had hematuria on urine screening at school. Anti-dsDNA antibody was
negative, but she was diagnosed with SLE based on fulfilling 5 of 12 diagnostic criteria for pediatric SLE
(malar rash, photosensitivity, urinary cellular cast, positive for antinuclear antibody positive and
hypocomplementemia). At 14 years of age, she developed bilateral toe arthritis with elevation of C1qbinding
immune complex. The arthritis was improved by oral administration of prednisolone (PSL) and
methotrexate (MTX), but recurred with a decrease in PSL dose. After changing MTX to mycophenolate
mofetil, the arthritis improved, but prurigo and proteinuria developed with reduction of the PSL dosage.
Target exome analysis revealed variants in C3 , C7 , MBL2 , CR2 , and CTLA-4 ; all of these genes have been
reported to be associated with development of SLE. Considering that anti-dsDNA antibody was negative
and C1q-binding immune complex was high, the possible mechanism of SLE in this case was the defect of
removing immune complexes, due to C3 , C7 , MBL2 , and CR2 .
View full abstract
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Rika Sekiya, Takasuke Ebato, Masanori Kaneko, Takashi Ito, Yuki Bando ...
2020 Volume 11 Issue 1 Pages
79-84
Published: 2020
Released on J-STAGE: October 06, 2021
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We diagnosed a 2-month-old infant with Kawasaki disease caused by a human parvovirus B19
(HPVB19)infection.
On the second day of illness, he presented with respiratory failure and compensated shock. Mechanical
ventilation was performed along with a blood transfusion and administration of antibiotics.
On the sixth day of illness, 5/6 of the major symptoms of Kawasaki disease resolved, and coronary
artery lesions appeared, so intravenous immunoglobulin was administered twice. After that, the symptoms of
Kawasaki disease disappeared and he was discharged on the 16th day of illness. Three months later, the
coronary artery lesions improved.
We considered the possibility of HPVB19 infection due to the findings of erythema of the extremities,
anemia, and low-level of complement. Moreover, HPVB19-IgM was positively converted and HPVB19-DNA
was detected in the plasma sample.
So, it was speculated that HPVB19 was involved in this case of Kawasaki disease.
In addition, we examined the cytokine profile to clarify the reason behind such serious symptoms,
and discovered that this case involved hypercytokinemia, which is not typical of Kawasaki disease.
Therefore, we considered the hyper-cytokine storm caused by the HPVB19 infection as the
pathogenesis of this case. Thus, it is necessary to treat Kawasaki disease considering the possibility of
HPVB19 infection.
View full abstract