Art

J-GLOBAL ID：201902240615883265   Reference number：19A2840632

MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report

胃食道逆流とアカラシアに関連した再発性肺炎を伴うMIRAGE症候群:症例報告

Author (9)： Yoshizaki Kanako (Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan) ,  Hachiya Rumi (Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan) ,  Tomobe Yutaro (Department of Neonatology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan) ,  Kaku Uiko (Department of Neonatology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan) ,  Akiba Kazuhisa (Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan) ,  Akiba Kazuhisa (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Shima Hirohito (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Narumi Satoshi (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Hasegawa Yukihiro (Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan)
Material： Clinical Pediatric Endocrinology  (Clin Pediatr Endocrinol)
Volume： 28  Issue： 4  Page： 147-153(J-STAGE)  Publication year： 2019 
JST Material Number： L4217A  ISSN： 0918-5739  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *MIRAGE症候群 ,...

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Author keywords (4)： MIRAGE syndrome ,  gastroesophageal reflux ,  esophageal hypoperistalsis ,  aspiration pneumonia

JST classification (4)： Congenital diseases,deformities in general.  (GD03010V) ,  Drug therapy(=pharmacotherapy)for endocrine diseases  (GL05020S) ,  Drug therapy(=pharmacotherapy)for hematologic diseases in general  (GK05020P) ,  Treatment for respiratory system diseases in general  (GI05010Y)

Substance index (3)： Cefotaxime ,  Cortisol ,  Fludrocortisone

Reference (11)：

• 1. Narumi, S, Amano, N, Ishii, T, Katsumata, N, Muroya, K, Adachi, M, et al. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet 2016;48: 792-7.
• 2. Homma, K, Hasegawa, T, Masumoto, M, Takeshita, E, Watanabe, K, Chiba, H, et al. Reference values for urinary steroids in Japanese newborn infants: gas chromatography/mass spectrometry in selected ion monitoring. Endocr J 2003;50: 783-92.
• 3. Buonocore, F, Kühnen, P, Suntharalingham, JP, Del Valle, I, Digweed, M, Stachelscheid, H, et al. Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. J Clin Invest 2017;127: 1700-13.
• 4. Shima, H, Koehler, K, Nomura, Y, Sugimoto, K, Satoh, A, Ogata, T, et al. Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. J Med Genet 2018;55: 81-5.
• 5. Tuason, J, Inoue, H. Current status of achalasia management: a review on diagnosis and treatment. J Gastroenterol 2017;52: 401-6.

Terms in the title (6)： 胃食道逆流 ,  アカラシア ,  再発 ,  肺炎 ,  MIRAGE症候群 ,  症例報告