Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis

Autor:	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
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	pachydermoperiostosis Male Osteoarthropathy Primary Hypertrophic hemic and lymphatic diseases Mutation SLCO2A1 Humans Organic Anion Transporters Case Report Middle Aged CEAS Inflammatory Bowel Diseases Ulcer
Zdroj:	Internal Medicine
ISSN:	1349-7235 0918-2918
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::f6d264f0138d734ba1e6fdad10d3d6ec http://europepmc.org/articles/PMC7807103 Zobrazit plný text záznamu