Shwachman–Diamond syndrome: Nationwide survey and systematic review in Japan

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

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)719-726
Number of pages8
JournalPediatrics International
Volume60
Issue number8
DOIs
Publication statusPublished - Aug 2018

Fingerprint

Japan
Pediatrics
Enzyme Replacement Therapy
Literature
Exocrine Pancreatic Insufficiency
Therapeutics
Surveys and Questionnaires
Practice Guidelines
Meta-Analysis
Diarrhea
Fats
Databases
Guidelines

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Ikuse, T., Kudo, T., Arai, K., Fujii, Y., Ida, S., Ishii, T., ... Shimizu, T. (2018). Shwachman–Diamond syndrome: Nationwide survey and systematic review in Japan. Pediatrics International, 60(8), 719-726. https://doi.org/10.1111/ped.13601

Shwachman–Diamond syndrome : Nationwide survey and systematic review in Japan. / 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.

In: Pediatrics International, Vol. 60, No. 8, 08.2018, p. 719-726.

Research output: Contribution to journalArticle

Ikuse, T, Kudo, T, Arai, K, Fujii, Y, Ida, S, Ishii, T, Mushiake, S, Nagata, K, Tamai, H, Toki, A, Tomomasa, T, Ushijima, K, Yanagi, T, Yonekura, T, Taguchi, T & Shimizu, T 2018, 'Shwachman–Diamond syndrome: Nationwide survey and systematic review in Japan', Pediatrics International, vol. 60, no. 8, pp. 719-726. https://doi.org/10.1111/ped.13601
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. / Shwachman–Diamond syndrome : Nationwide survey and systematic review in Japan. In: Pediatrics International. 2018 ; Vol. 60, No. 8. pp. 719-726.
@article{bfec943b14ea488798ccb52a1614e7dc,
title = "Shwachman–Diamond syndrome: Nationwide survey and systematic review in Japan",
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.",
author = "Tamaki Ikuse and Takahiro Kudo and Katsuhiro Arai and Yoshimitsu Fujii and Shinobu Ida and Tomohiro Ishii and Sotaro Mushiake and Kouji Nagata and Hiroshi Tamai and Akira Toki and Takeshi Tomomasa and Kosuke Ushijima and Tadahiro Yanagi and Takeo Yonekura and Tomoaki Taguchi and Toshiaki Shimizu",
year = "2018",
month = "8",
doi = "10.1111/ped.13601",
language = "English",
volume = "60",
pages = "719--726",
journal = "Pediatrics International",
issn = "1328-8067",
publisher = "Wiley-Blackwell",
number = "8",

}

TY - JOUR

T1 - Shwachman–Diamond syndrome

T2 - Nationwide survey and systematic review in Japan

AU - Ikuse, Tamaki

AU - Kudo, Takahiro

AU - Arai, Katsuhiro

AU - Fujii, Yoshimitsu

AU - Ida, Shinobu

AU - Ishii, Tomohiro

AU - Mushiake, Sotaro

AU - Nagata, Kouji

AU - Tamai, Hiroshi

AU - Toki, Akira

AU - Tomomasa, Takeshi

AU - Ushijima, Kosuke

AU - Yanagi, Tadahiro

AU - Yonekura, Takeo

AU - Taguchi, Tomoaki

AU - Shimizu, Toshiaki

PY - 2018/8

Y1 - 2018/8

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85050697477&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85050697477&partnerID=8YFLogxK

U2 - 10.1111/ped.13601

DO - 10.1111/ped.13601

M3 - Article

C2 - 29804317

AN - SCOPUS:85050697477

VL - 60

SP - 719

EP - 726

JO - Pediatrics International

JF - Pediatrics International

SN - 1328-8067

IS - 8

ER -