Cargando…
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...
Autores principales: | , , , , , , , , , , , , , |
---|---|
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 |
_version_ | 1783636674922676224 |
---|---|
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. |
format | Online Article Text |
id | pubmed-7807103 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | The Japanese Society of Internal Medicine |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT tsuzukiyoshikazu chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis AT aoyagiryutaro chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis AT miyaguchikazuya chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis AT ashitanikeigo chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis AT ohgohideki chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis AT yamaokaminoru chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis AT ishizawakeisuke chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis AT kayanohidekazu chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis AT hisamatsutadakazu chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis AT umenojunji chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis AT hosoenaoki chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis AT matsumototakayuki chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis AT nakamotohidetomo chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis AT imaedahiroyuki chronicenteropathyassociatedwithslco2a1withpachydermoperiostosis |