Authorship：Corresponding author   Language：English   Publishing type：Research paper (scientific journal)   Publisher：Pediatric Blood and Cancer  

DOI： 10.1002/pbc.30715

Scopus

PubMed

Language：English   Publishing type：Research paper (scientific journal)   Publisher：Pediatric Blood and Cancer  

DOI： 10.1002/pbc.30706

Scopus

PubMed

Language：English   Publishing type：Research paper (scientific journal)   Publisher：Pediatric Blood and Cancer  

DOI： 10.1002/pbc.30041

Scopus

PubMed

Language：Japanese   Publisher：(一社)日本血液学会-東京事務局  

症例は,乳児期より慢性的に血小板減少を認める13歳男子。慢性血小板減少症の家族歴を有すること,小型血小板,免疫グロブリン治療に不応などより,X連鎖性血小板減少症(X-linked thrombocytopenia,XLT)を疑い,Wiskott-Aldrich syndrome蛋白(WASP)発現解析を行ったところ,発現低下を認めた。WASP遺伝子解析では,WASP-interacting protein領域のエクソン3部位のミスセンス変異[c.296A>G(p.Gln99Arg)]を認め,XLTと診断した。運動制限解除のためeltrombopagの内服を12.5mg/日で12歳時から開始した。25mg/日まで増量したところ血小板数は5万/μl前後まで上昇し,運動制限解除後も出血症状は出現しにくくなった。Eltrombopag治療後の透過型電子顕微鏡検査では血小板微細構造,凝集能検査の異常を認めていた。XLT症例に対するeltrombopag治療は,血小板数増加,出血症状の改善を期待できる。(著者抄録)

Authorship：Lead author,　Corresponding author   Language：English   Publishing type：Research paper (scientific journal)   Publisher：The Japanese Society for Pediatric Endocrinology  

<p>Among the types of acute thyroiditis, subacute thyroiditis (SAT) is rare in children, and there is limited knowledge regarding its characteristics in pediatric cases. We present a case of SAT in a 6-yr-old boy who was brought to our hospital with high fever and pain in the front portion of the neck. Acute suppurative thyroiditis (AST), which is common in children, was suspected initially. Tenderness observed in the thyroid corresponded to a hypoechoic region on ultrasonography. The tenderness subsequently shifted to the isthmus, which was evident as a hypoechoic region on ultrasonography. Movement of hypoechoicity is typical of creeping thyroiditis, wherein the pain and tenderness can be unilateral or may start on one side and subsequently shift to the contralateral side after days or even weeks. Based on this characteristic and changes in laboratory parameters, the patient was diagnosed as a case of creeping thyroiditis. Improvement was observed in the patient without the use of anti-inflammatory drugs. At the 2-yr follow-up, the patient did not have thyrotoxicosis or relapse. Although AST is more prevalent than SAT in children, ultrasonography findings of creeping thyroiditis may be an important indicator for the diagnosis of SAT in pediatric patients.</p>

DOI： 10.1297/cpe.30.75

Scopus

PubMed

Language：English  

Language：English  

Language：English  

Language：Japanese  

Language：Japanese