Shwachman–Diamond syndrome: Nationwide survey and systematic review in Japan |
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| Authors: | Tamaki Ikuse Takahiro Kudo Katsuhiro Arai Yoshimitsu Fujii Shinobu Ida Tomohiro Ishii Sotaro Mushiake Kouji Nagata Hiroshi Tamai Akira Toki Takeshi Tomomasa Kosuke Ushijima Tadahiro Yanagi Takeo Yonekura Tomoaki Taguchi Toshiaki Shimizu |
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| Affiliation: | 1. Study Group for Rare and Intractable Chronic Gastrointestinal Diseases supported by Health Labour Sciences Research Grant, Ministry of Health Labour and Welfare, Tokyo, Japan;2. Department of Pediatrics, Juntendo University, Faculty of Medicine, Tokyo, Japan;3. Division of Gastroenterology, National Center for Child Health and Development, Tokyo, Japan;4. Division of Pediatrics, Department of Medicine, Tohoku Medical and Pharmaceutical University, Miyagi, Japan;5. Osaka Women's and Children's Hospital, Osaka, Japan;6. Department of Pediatric Surgery, Kindai University Nara Hospital, Nara, Japan;7. Department of Pediatrics, Kindai University Nara Hospital, Nara, Japan;8. Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;9. Department of Pediatrics, Osaka Medical College, Osaka, Japan;10. Division of Pediatric Surgery, Department of Surgery, Showa University School of Medicine, Tokyo, Japan;11. PAL Children's Clinic, Gunma, Japan;12. Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan;13. Children's Medical Center, Kyushu University Hospital, Fukuoka, Japan |
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| Abstract: | Background Shwachman–Diamond syndrome (SDS) is a rare multisystem disorder associated with exocrine pancreatic insufficiency. The present study reports the results of a nationwide survey and a systematic review on SDS to develop consensus guidelines for intractable diarrhea including SDS. Methods Questionnaires were sent to 616 departments of pediatrics or of pediatric surgery in Japan in a nationwide survey. A second questionnaire was sent to doctors who had treated SDS patients and included questions on clinical information. Additionally, a systematic review was performed using digital literature databases to assess the influence of medical (i.e. non‐surgical) treatment on SDS prognosis. Results Answers were received from 529 institutions (85.9%), which included information on 24 patients with SDS (median age, 10.4 years; male, n = 15) treated from January 2005 to December 2014. Although 75% of patients received pancreatic enzyme replacement therapy, there was no significant association between treatment and prognosis. Systematic review identified one clinical practice guideline, two case series, eight case reports and 26 reviews. Patient information from those studies was insufficient for meta‐analysis. Conclusions The rarity of SDS makes it difficult to establish evidence‐based treatment for SDS. According to the limited information from patients and published reports, medical treatment for malabsorption due to SDS should be performed to improve fat absorption and stool condition, but it is not clear whether this treatment improves the prognosis of malabsorption. |
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| Keywords: | congenital malabsorption diarrhea pancreatic exocrine insufficiency Shwachman– Diamond syndrome steatorrhea |
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