記述言語：英語   掲載種別：研究論文（学術雑誌）  

Trisomy 21 is sometimes complicated by congenital heart disease; however, comorbid type I diabetes mellitus and diseases involving autoantibodies such as Hashimoto's disease and Graves' disease are not uncommon. In contrast, autoinflammatory diseases such as Kawasaki disease and systemic juvenile idiopathic arthritis are rarely observed. We report a rare case of trisomy 21 with systemic juvenile idiopathic arthritis that responded well to the first course of methylprednisolone pulse therapy, but flared up and was complicated by macrophage activation syndrome (MAS). Subsequent methylprednisolone pulse therapy and cyclosporine resolved this condition. Cytokine analyses at several time points during the clinical course revealed that interleukin-18, interleukin-6, and chemokine ligand 9 levels were elevated even MAS onset in the patient with trisomy 21 once the clinical symptoms seemed to have settled down. Thus, in the future, early analysis of cytokine profiles should be performed for risk assessments of MAS and for determining the treatment intensity, even T21 patients.

DOI： 10.1272/jnms.JNMS.2023_90-605

PubMed

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記述言語：日本語   出版者・発行元：(一社)日本小児リウマチ学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児血液・がん学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児リウマチ学会  

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掲載種別：研究論文（学術雑誌）   出版者・発行元：Oxford University Press (OUP)  

ABSTRACT

In paediatric primary Sjögren’s syndrome (SS), the initial symptoms manifest systemically, such as fever, general fatigue, and lymphadenopathy, rather than sicca symptoms. Most children with primary SS have autoantibodies, such as antinuclear, anti-Ro/SS-A, and/or anti-La/SS-B antibodies; however, some patients are seronegative. Similar to paediatric patients with primary SS, those with Takayasu arteritis (TAK) initially only present constitutional symptoms, making it difficult to suspect, unless characteristic features are present. To our knowledge, there have been no reports of the coexistence of both diseases in children. We present a rare case of seronegative SS complicated by TAK in a 9-year-old girl who presented with a persistent low-grade fever, general fatigue, cervical lymphadenopathy, and multiple caries. Although blood examination revealed all autoantibodies to be negative, a lip biopsy revealed lymphocytic sialadenitis, and a sialoscintigraphy indicated hypofunctional salivary glands, leading to the diagnosis of seronegative SS. The patient was treated with low-dose glucocorticoid and immunosuppressant administration to inhibit persistent inflammation and the progression of salivary gland dysfunction; although the symptoms resolved, inflammatory markers remained elevated. When the patient was 14 years old, cervical bruits were incidentally found, and TAK was suspected based on cervical ultrasonography and magnetic resonance angiography findings. 18F-fluorodeoxyglucose-positron emission tomography/computed tomography results demonstrated increased fluorodeoxyglucose accumulation from the ascending to descending aorta. Therefore, she was diagnosed with SS complicated by TAK, which is rare. Aortitis should be suspected when the cause of persistent inflammation cannot be ascertained in patients with SS.

DOI： 10.1093/mrcr/rxac062

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記述言語：日本語   出版者・発行元：日本医科大学医学会  

13歳女児。ネフローゼ症候群の再発時に急性腎不全を併発した。透析を行うために緊急時ブラッドアクセス留置用カテーテルを右内頸静脈より挿入したが、右内頸静脈に静脈血栓症を発症した。治療として抗凝固療法を行い、エドキサバントシル酸塩を2週間投与後、アピキサバンへ変更した。その結果、血栓は消失し、入院63日目に退院となった。

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その他リンク： https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2021&ichushi_jid=J04260&link_issn=&doc_id=20211116290008&doc_link_id=%2Fcw1nimed%2F2021%2F001704%2F011%2F0182-0185%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fcw1nimed%2F2021%2F001704%2F011%2F0182-0185%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

記述言語：英語   掲載種別：研究論文（学術雑誌）  

IgA vasculitis (IgAV) is the most frequent form of vasculitis in childhood which classically presents with purpura of the lower extremities, joint pain or swelling and abdominal pain. Though it is a self-limiting disease, and its prognosis is generally good, glomerulonephritis is one of the most important complications. IgAV is classified as a small vessel vasculitis, and though glomerulonephritis develops in IgAV, necrotizing arteritis is rarely seen. Here, we present a case of a 13-year-old girl with IgAV, glomerulonephritis, and necrotizing arteritis in the small renal arteries. There have been only a few reports of adult cases of IgAV with necrotizing arteritis in the kidneys, but there have been no pediatric cases. Some previous reports showed a high mortality rate and implied the possibility of overlap with other vasculitides. In the current report, a rare case of IgAV is described which exhibited necrotizing arteritis rather than overlap with another vasculitis, with a relatively typical clinical course for IgAV and laboratory tests.

DOI： 10.1007/s13730-021-00617-7

PubMed

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Hemophagocytic lymphohistiocytosis (HLH) associated with Epstein-Barr virus (EBV) infection ranges from self-limiting to severe/aggressive or fatal. We report the case of a 4-year-old boy with EBV-HLH with persistent fever, severe pancytopenia, hypertriglyceridemia, and hypofibrinogenemia. The levels of plasma cytokines and chemokines were measured using a Bio-Plex system on Days 1, 2, 3, 4, 5, and 8 following hospital admission. The administration of steroid and high-dose intravenous immunoglobulin (1 g/kg) did not alleviate the fever or reduce cytokine production; however, following etoposide (a known antineoplastic agent) administration, the fever decreased immediately, and the patient' s general condition improved. The present study revealed that IL-6, IL-10, IL-8, MCP-1, IFN-γ, and TNF-α were suppressed by etoposide administration. In particular, production of IFN-γ sharply declined from 1,104.1 pg/mL to 101.5 pg/mL, and the IL-6 level also decreased from 229.8 pg/mL to 11.0 pg/mL the day after the initial etoposide administration. Subsequently, there was no recurrence of symptoms with dexamethasone, etoposide, and cyclosporine A treatment. The present case demonstrates that early etoposide administration is critical for successful treatment and indicates that etoposide exhibits a prompt inhibitory effect on cytokine production.

DOI： 10.1272/jnms.JNMS.2020_87-307

PubMed

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記述言語：英語  

BACKGROUND: Therapeutic outcomes for childhood malignancy have dramatically improved. However, secondary malignancies are a major concern, as they greatly affect the quality of life of survivors. This retrospective study evaluated the cumulative incidence, clinical features, and outcomes of secondary malignancies at Nippon Medical School Hospital. METHODS: We examined data from 275 cases of primary childhood malignancy diagnosed between 1980 and 2014. Information regarding treatment of the primary malignancy, including irradiation dose, site, and cumulative dose of anticancer drugs, was assessed. We also collected data on secondary malignancy, including patient sex, age at diagnosis, malignancy site, time from primary to secondary malignancy, and outcomes. RESULTS: Secondary malignancies developed in 11 patients and included acute myeloid leukemia (AML) (4), meningioma (4), Ewing sarcoma (1), germ cell tumor (1), and malignant parotid gland tumor (1). The primary malignancies included acute lymphoblastic leukemia (ALL) (9), non-Hodgkin lymphoma (1) and brain tumor (1). In 7 of the 9 ALL patients, chemoradiotherapy was the primary treatment. The meningiomas and 1 solid tumor developed within the radiation field. All AMLs and meningiomas developed within 5 years and after 20 years, respectively, of the primary diagnosis. The 10- and 20-year cumulative incidence rates for secondary malignancy in our hospital were 1.9% and 5.8%, respectively. CONCLUSIONS: Our results revealed that the type of secondary malignancy depends on the interval after the end of treatment for primary malignancy. Meningioma, notably, develops many years after completion of primary malignancy treatment. Early detection during long-term follow-up is therefore essential.

DOI： 10.1272/jnms.JNMS.2018_86-401

PubMed

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記述言語：日本語   出版者・発行元：(一社)日本血栓止血学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公財)日本心臓財団  

症例は9ヵ月の男児。川崎病の主要症状6項目中4項目を認め、加えて、非常に不機嫌であること、BCG接種部位の発赤など川崎病を強く疑わせる臨床症状ならびに血液検査を考慮し川崎病を疑った。治療は第3病日より免疫グロブリン点滴静注(以下IVIG)療法を開始したが治療抵抗性のため、第5病日にIVIGを追加し、さらに第8病日にプレドニゾロンの追加を行い解熱した。心臓超音波検査では入院時には明らかな冠動脈病変(以下CAL)は認めなかったが、第9病日にはCAL合併が出現し、最大値は右冠動脈6.5mm(Zスコア10.44)、左冠動脈3.2mm(Zスコア4.28)となった。CALは発症1ヵ月時点でも改善を認められなかった。CRP値は3.66mg/dLと軽度の上昇に留まっていたが、PTX3値は63.7ng/mLと著しい高値を認めており、PTX3がIVIG不応例の予測ならびにCAL合併の予測に有用である可能性を示唆する症例と考え、過去のデータレビューとともに報告する。(著者抄録)

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その他リンク： https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2019&ichushi_jid=J00679&link_issn=&doc_id=20191213150013&doc_link_id=%2Fah2sinzd%2F2019%2F005112%2F015%2F1297-1303%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fah2sinzd%2F2019%2F005112%2F015%2F1297-1303%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

記述言語：日本語   出版者・発行元：(一社)日本小児リウマチ学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児血液・がん学会  

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記述言語：日本語   出版者・発行元：(一社)日本アレルギー学会  

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記述言語：日本語   出版者・発行元：(一社)日本アレルギー学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児腎臓病学会  

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記述言語：日本語   出版者・発行元：(一社)日本アレルギー学会  

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記述言語：日本語   出版者・発行元：(一社)日本リウマチ学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児リウマチ学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児リウマチ学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児腎臓病学会  

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記述言語：日本語   出版者・発行元：(一社)日本形成外科学会  

15歳女。5年前に鼻前底部の横紋筋肉腫を発症し、3回の手術に加え、化学療法、放射線療法を施行されたが再発を繰り返した。腫瘍は硬口蓋から中咽頭にかけて進展・増大し、気道狭窄をきたしたが、気管切開による延命は本人・家族とも望まず、腫瘍の縮小を目的に当科受診した。初診時、出血を伴う弾性硬の腫瘍が鼻腔から前方に突出しており、体表外の腫瘍は7×8×6cm大であった。手術による腫瘍縮小は多量の出血が予想され、また本人・家族とも全身麻酔下の手術は望んでいなかったため、Mohsペーストによる腫瘍の減量を行った。結果、1ヵ月で腫瘍の高さが半分になり、2ヵ月後には更に減量されて気道狭窄が改善し、経口摂取が可能となった。

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児リウマチ学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児リウマチ学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児腎臓病学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児腎臓病学会  

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記述言語：日本語   出版者・発行元：(一社)日本アレルギー学会  

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記述言語：日本語   出版者・発行元：日本小児感染症学会  

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記述言語：日本語   出版者・発行元：(一社)日本リウマチ学会  

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記述言語：日本語   出版者・発行元：(一社)日本リウマチ学会  

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記述言語：日本語   出版者・発行元：(一社)日本リウマチ学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児リウマチ学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児血液・がん学会  

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記述言語：日本語   出版者・発行元：日本小児放射線学会  

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記述言語：日本語   出版者・発行元：(一社)日本小児腎臓病学会  

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記述言語：日本語   出版者・発行元：(一社)日本リウマチ学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(NPO)日本小児血液・がん学会・(NPO)日本小児がん看護学会・(公財)がんの子供を守る会  

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記述言語：日本語   出版者・発行元：日本医科大学医学会  

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記述言語：日本語   出版者・発行元：(公社)神奈川県医師会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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記述言語：日本語   出版者・発行元：(公社)日本小児科学会  

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