title: Pediatric-onset Chronic Nonspecific Multiple Ulcers of Small Intestine: A Nationwide Survey and Genetic Study in Japan.
abstract: We performed a Japanese nationwide survey of pediatric-onset chronic nonspecific multiple ulcers of the small intestine between January 2000 and July 2013 in 176 institutions of pediatric surgery or pediatric gastroenterology and clarified the clinical features associated with genetic abnormalities in the Solute Carrier Organic Anion Transporter Family, Member 2A1 (SLCO2A1) gene. A total of 4 cases (3 girls and 1 boy) were diagnosed in this series, which had to be differentiated from Crohn disease, Behçet disease, tuberculosis, or drug-induced enteropathy. Clinical symptoms appeared in infants and accurate diagnosis required several years. Medical therapies for inflammatory bowel disease were administered in all patients; however, 2 of the 4 patients had mutation in the SLCO2A1 gene which are responsible for primary hypertrophic osteoarthopathy, and underwent strictureplasty or ileal resection after long-term follow-up. Pediatric gastroenterologists should include this new entity in the differential diagnosis of small intestinal ulcers and inflammatory bowel disease.
authors.affiliation: *Department of Gastrointestinal and Pediatric Surgery, Mie University Graduate School of Medicine, Mie †Department of Gastroenterology and Hepatology, Yokohama City University Graduate School of Medicine, Kanagawa ‡Department of Pediatrics, Kurume University, Fukuoka §Department of Pediatric Gastroenterology, Nutrition and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka ||Department of General Pediatrics, Miyagi Children's Hospital, Miyagi ¶Department of Pediatrics, Morioka Children's Hospital, Iwate #Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka **Division of Gastroenterology and Hepatology, Department of Internal Medicine, Iwate Medical University, Morioka ††Department of Pediatric Surgery, Graduated School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Uchida
authors.forename: Atsushi
authors.initials: A
authors.lastname: Nakajima
authors.forename: Kosuke
authors.initials: K
authors.lastname: Ushijima
authors.forename: Shinobu
authors.initials: S
authors.lastname: Ida
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Seki
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Kakuta
authors.forename: Daiki
authors.initials: D
authors.lastname: Abukawa
authors.forename: Hisayuki
authors.initials: H
authors.lastname: Tsukahara
authors.forename: Shun-Ichi
authors.initials: SI
authors.lastname: Maisawa
authors.forename: Mikihiro
authors.initials: M
authors.lastname: Inoue
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Araki
authors.forename: Junji
authors.initials: J
authors.lastname: Umeno
authors.forename: Takayuki
authors.initials: T
authors.lastname: Matsumoto
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Taguchi
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D005819:Genetic Markers; D006306:Health Surveys; D006801:Humans; D007223:Infant; D007410:Intestinal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D007421:Intestine, Small; D007564:Japan; D008297:Male; D009154:Mutation; D027361:Organic Anion Transporters / Q000235:genetics*; D014456:Ulcer / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy
chemical_list: D005819:Genetic Markers; D027361:Organic Anion Transporters; C503526:SLCO2A1 protein, human