Ikuse Tamaki, Kudo Takahiro, Arai Katsuhiro, Fujii Yoshimitsu, Ida Shinobu, Ishii Tomohiro, Mushiake Sotaro, Nagata Kouji, Tamai Hiroshi, Toki Akira, Tomomasa Takeshi, Ushijima Kosuke, Yanagi Tadahiro, Yonekura Takeo, Taguchi Tomoaki, Shimizu Toshiaki
Study Group for Rare and Intractable Chronic Gastrointestinal Diseases supported by Health Labour Sciences Research Grant, Ministry of Health Labour and Welfare, Tokyo, Japan.
Department of Pediatrics, Juntendo University, Faculty of Medicine, Tokyo, Japan.
Pediatr Int. 2018 Aug;60(8):719-726. doi: 10.1111/ped.13601. Epub 2018 Jul 10.
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.
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.
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.
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.
施瓦赫曼-戴蒙德综合征（SDS）是一种罕见的多系统疾病，与外分泌性胰腺功能不全相关。本研究报告了一项关于SDS的全国性调查结果以及一项系统性综述，以制定包括SDS在内的顽固性腹泻的共识指南。
在全国性调查中，向日本616个儿科或小儿外科科室发送了问卷。向治疗过SDS患者的医生发送了第二份问卷，其中包括关于临床信息的问题。此外，使用数字文献数据库进行了系统性综述，以评估药物（即非手术）治疗对SDS预后的影响。
收到了529家机构（85.9%）的回复，其中包括2005年1月至2014年12月期间治疗的24例SDS患者的信息（中位年龄10.4岁；男性15例）。尽管75%的患者接受了胰酶替代疗法，但治疗与预后之间无显著关联。系统性综述确定了1项临床实践指南、2个病例系列、8篇病例报告和26篇综述。这些研究中的患者信息不足以进行荟萃分析。
SDS的罕见性使得难以建立基于证据的SDS治疗方法。根据患者提供的有限信息和已发表的报告，应进行针对SDS所致吸收不良的药物治疗，以改善脂肪吸收和大便状况，但尚不清楚这种治疗是否能改善吸收不良的预后。
