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Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis

A 49-year-old man complained of chronic palpitation and shortness of breath, which had recently become exacerbated. A blood examination indicated severe refractory anemia and hypoproteinemia. Physical examinations revealed anemia, a systolic murmur, and spoon nails. Multiple nonspecific ileal ulcers...

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Autores principales: Tsuzuki, Yoshikazu, Aoyagi, Ryutaro, Miyaguchi, Kazuya, Ashitani, Keigo, Ohgo, Hideki, Yamaoka, Minoru, Ishizawa, Keisuke, Kayano, Hidekazu, Hisamatsu, Tadakazu, Umeno, Junji, Hosoe, Naoki, Matsumoto, Takayuki, Nakamoto, Hidetomo, Imaeda, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7807103/
https://www.ncbi.nlm.nih.gov/pubmed/33328413
http://dx.doi.org/10.2169/internalmedicine.4756-20
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author Tsuzuki, Yoshikazu
Aoyagi, Ryutaro
Miyaguchi, Kazuya
Ashitani, Keigo
Ohgo, Hideki
Yamaoka, Minoru
Ishizawa, Keisuke
Kayano, Hidekazu
Hisamatsu, Tadakazu
Umeno, Junji
Hosoe, Naoki
Matsumoto, Takayuki
Nakamoto, Hidetomo
Imaeda, Hiroyuki
author_facet Tsuzuki, Yoshikazu
Aoyagi, Ryutaro
Miyaguchi, Kazuya
Ashitani, Keigo
Ohgo, Hideki
Yamaoka, Minoru
Ishizawa, Keisuke
Kayano, Hidekazu
Hisamatsu, Tadakazu
Umeno, Junji
Hosoe, Naoki
Matsumoto, Takayuki
Nakamoto, Hidetomo
Imaeda, Hiroyuki
author_sort Tsuzuki, Yoshikazu
collection PubMed
description A 49-year-old man complained of chronic palpitation and shortness of breath, which had recently become exacerbated. A blood examination indicated severe refractory anemia and hypoproteinemia. Physical examinations revealed anemia, a systolic murmur, and spoon nails. Multiple nonspecific ileal ulcers were observed. A pathological examination indicated a small granuloma with CD68-positive histiocytes. He had a deeply wrinkled forehead, chiseled face, and clubbed fingers. Radiography revealed periostosis of the fingers and long bones in the limb. He was diagnosed with pachydermoperiostosis. SLCO2A1 demonstrated a c.1807C>T homo-mutation. He was also diagnosed with SLCO2A1-associated chronic enteropathy and thus was treated with 5-aminosalicylic acid, which temporarily improved the ileal ulcers, anemia, and hypoalbuminemia.
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spelling pubmed-78071032021-01-27 Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis Tsuzuki, Yoshikazu Aoyagi, Ryutaro Miyaguchi, Kazuya Ashitani, Keigo Ohgo, Hideki Yamaoka, Minoru Ishizawa, Keisuke Kayano, Hidekazu Hisamatsu, Tadakazu Umeno, Junji Hosoe, Naoki Matsumoto, Takayuki Nakamoto, Hidetomo Imaeda, Hiroyuki Intern Med Case Report A 49-year-old man complained of chronic palpitation and shortness of breath, which had recently become exacerbated. A blood examination indicated severe refractory anemia and hypoproteinemia. Physical examinations revealed anemia, a systolic murmur, and spoon nails. Multiple nonspecific ileal ulcers were observed. A pathological examination indicated a small granuloma with CD68-positive histiocytes. He had a deeply wrinkled forehead, chiseled face, and clubbed fingers. Radiography revealed periostosis of the fingers and long bones in the limb. He was diagnosed with pachydermoperiostosis. SLCO2A1 demonstrated a c.1807C>T homo-mutation. He was also diagnosed with SLCO2A1-associated chronic enteropathy and thus was treated with 5-aminosalicylic acid, which temporarily improved the ileal ulcers, anemia, and hypoalbuminemia. The Japanese Society of Internal Medicine 2020-12-15 2020-12-15 /pmc/articles/PMC7807103/ /pubmed/33328413 http://dx.doi.org/10.2169/internalmedicine.4756-20 Text en Copyright © 2020 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Tsuzuki, Yoshikazu
Aoyagi, Ryutaro
Miyaguchi, Kazuya
Ashitani, Keigo
Ohgo, Hideki
Yamaoka, Minoru
Ishizawa, Keisuke
Kayano, Hidekazu
Hisamatsu, Tadakazu
Umeno, Junji
Hosoe, Naoki
Matsumoto, Takayuki
Nakamoto, Hidetomo
Imaeda, Hiroyuki
Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis
title Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis
title_full Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis
title_fullStr Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis
title_full_unstemmed Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis
title_short Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis
title_sort chronic enteropathy associated with slco2a1 with pachydermoperiostosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7807103/
https://www.ncbi.nlm.nih.gov/pubmed/33328413
http://dx.doi.org/10.2169/internalmedicine.4756-20
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