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Rare gastrointestinal diseases

This section addresses the exchange of experiences and reports on advances in diagnosing and treating digestive conditions which share common clinical features but have special pathogenesis. As an example, inflammatory bowel disease is more and more common in the pediatric population. However, its very early onset (especially before 5 years of age) frequently has a monogenetic (several phenotypes have been described) that require different therapeutic approaches from later onset. This is also true for other conditions and we hope to help disseminate this knowledge. Articles on these conditions should include a strong translational component. Detailed reviews on rare GI conditions are also welcome.

  1. After repair of esophageal atresia (EA), childhood survivors commonly present with digestive and respiratory morbidity, and around 55% have associated anomalies. Although it is known that these problems can re...

    Authors: Michaela Dellenmark-Blom, Kate Abrahamsson, Jens Dingemann, Stefanie Witt, Carmen Dingemann, Linus Jönsson, Vladimir Gatzinsky, Monika Bullinger, Benno M. Ure, John E. Chaplin and Julia H. Quitmann
    Citation: Orphanet Journal of Rare Diseases 2022 17:207
  2. A patient reported outcome (PRO) instrument with evidence of validity and reliability for assessing symptoms of eosinophilic gastritis (EG) and eosinophilic gastroenteritis (EGE) is needed to measure treatment...

    Authors: Calvin N. Ho, Sean O’Quinn, Julie Bailey, Oren Meyers, Ashley F. Slagle, Evan S. Dellon and Catherine Datto
    Citation: Orphanet Journal of Rare Diseases 2021 16:495
  3. Infants with neonatal-onset diarrhea present with intractable diarrhea in the first few weeks of life. A monogenic mutation is one of the disease etiologies and the use of next-generation sequencing (NGS) has ...

    Authors: Weihui Yan, Yongtao Xiao, Yunyi Zhang, Yijing Tao, Yi Cao, Kunhui Liu, Wei Cai and Ying Wang
    Citation: Orphanet Journal of Rare Diseases 2021 16:383
  4. Alimentary tract duplications are rare congenital lesions, and only 2–8% of them are located in the stomach. Gastric duplications (GD) can lead to severe adverse events. Thus, surgical resection is required on...

    Authors: Yang Li, Chen Li, Hao Wu, Quan Wang, Zhi-Dong Gao, Xiao-Dong Yang, Ke-Wei Jiang and Ying-Jiang Ye
    Citation: Orphanet Journal of Rare Diseases 2021 16:368
  5. To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test.

    Authors: Yu-Liang Jiang, Xiao-Dong Xu, Bai-Rong Li, En-Da Yu, Zi-Ye Zhao and Hong Liu
    Citation: Orphanet Journal of Rare Diseases 2021 16:261
  6. Pseudomyxoma peritonei (PMP) is a clinical malignant syndrome mainly originating from the appendix, with an incidence of 2–4 per million people. As a rare disease, an early and accurate diagnosis of PMP is dif...

    Authors: Yu-Lin Lin, Da-Zhao Xu, Xin-Bao Li, Feng-Cai Yan, Hong-Bin Xu, Zheng Peng and Yan Li
    Citation: Orphanet Journal of Rare Diseases 2021 16:85
  7. Neuroendocrine neoplasia of the small intestine (siNEN) are frequently diagnosed with liver metastases. The impact of the presence of liver metastases on overall survival and the necessity of surgery for liver...

    Authors: Andreas Selberherr, Simon Freermann, Oskar Koperek, Martin B. Niederle, Philipp Riss, Christian Scheuba and Bruno Niederle
    Citation: Orphanet Journal of Rare Diseases 2021 16:30
  8. Peutz-Jeghers Syndrome (PJS) is known as a rare inherited polyposis due to the malfunction of serine/threonine kinase gene LKB1. However, not all of PJS patients carry LKB1 germline mutation. Previous researches ...

    Authors: Teng Li, Wensheng Lin, Yilei Zhao, Jianping Zhu, Tao Sun and Li Ren
    Citation: Orphanet Journal of Rare Diseases 2020 15:208
  9. Hirschsprung’s disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding ...

    Authors: Kristiina Kyrklund, Cornelius E. J. Sloots, Ivo de Blaauw, Kristin Bjørnland, Udo Rolle, Duccio Cavalieri, Paola Francalanci, Fabio Fusaro, Annette Lemli, Nicole Schwarzer, Francesco Fascetti-Leon, Nikhil Thapar, Lars Søndergaard Johansen, Dominique Berrebi, Jean-Pierre Hugot, Célia Crétolle…
    Citation: Orphanet Journal of Rare Diseases 2020 15:164
  10. Primary hypertrophic osteoarthropathy (PHO) is a rare disease related to HPGD and SLCO2A1 gene mutation. Gastrointestinal involvement of PHO is even rarer with unknown pathogenesis. Clinical features of GI compli...

    Authors: Qiang Wang, Ying-he Li, Guo-le Lin, Yue Li, Wei-xun Zhou, Jia-ming Qian, Wei-bo Xia and Dong Wu
    Citation: Orphanet Journal of Rare Diseases 2019 14:297
  11. Hirschsprung Disease (HSCR) is a congenital defect of the intestinal innervations characterized by complex inheritance. Many susceptibility genes including RET, the major HSCR gene, and several linked regions and...

    Authors: Francesca Lantieri, Stefania Gimelli, Chiara Viaggi, Elissavet Stathaki, Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan-Béna, Alessio Pini Prato, Domenico Coviello and Isabella Ceccherini
    Citation: Orphanet Journal of Rare Diseases 2019 14:270
  12. Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by the absence of enteric ganglia in the distal part of the gut. RET is the major causative gene and contains > 80% of all known disea...

    Authors: Qian Jiang, Yang Wang, Qi Li, Zhen Zhang, Ping Xiao, Hui Wang, Na Liu, Jian Wu, Feng Zhang, Aravinda Chakravarti, Wei Cai and Long Li
    Citation: Orphanet Journal of Rare Diseases 2019 14:237
  13. Hereditary hemorrhagic teleangectasia (HHT, or Rendu-Osler-Weber disease) is a rare inherited syndrome, characterized by arterio-venous malformations (AVMs or Telangiectasia). The most important and common man...

    Authors: Annalisa Tortora, Maria Elena Riccioni, Eleonora Gaetani, Veronica Ojetti, Grainne Holleran and Antonio Gasbarrini
    Citation: Orphanet Journal of Rare Diseases 2019 14:130
  14. MicroRNAs (miRNAs) have been associated with the Hirschsprung disease (HSCR) pathogenesis, however, the findings are still inconclusive. We aimed to investigate the effect of miRNA-206 and its targets, fibronecti...

    Authors: Gunadi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Wiwid Santiko, Fuad Dheni Musthofa, Kristy Iskandar and Akhmad Makhmudi
    Citation: Orphanet Journal of Rare Diseases 2019 14:5
  15. Hirschsprung’s disease is a rare condition caused by congenital malformation of the gastrointestinal tract affecting 1:5000 children. Not much is known about risk factors for development of Hirschsprung’s dise...

    Authors: Sebastian Werngreen Nielsen, Perniller Møller Ljungdalh, Jan Nielsen, Bente Mertz Nørgård and Niels Qvist
    Citation: Orphanet Journal of Rare Diseases 2017 12:116
  16. Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal motility disorder with significant morbidity and mortality in pediatric patients. The diagnosis of CIPO is difficult, because it is clinically ...

    Authors: Jun-Kai Yan, Ke-Jun Zhou, Jian-Hu Huang, Qing-Qing Wu, Tian Zhang, Chao-Chen Wang and Wei Cai
    Citation: Orphanet Journal of Rare Diseases 2017 12:62
  17. Chylomicron retention disease (CMRD), a rare genetic hypocholesterolemia, results in neuro-ophtalmologic damages, which can be prevented by high doses of vitamin E during infancy. In these patients, plasma vit...

    Authors: Charlotte Cuerq, Lioara Restier, Jocelyne Drai, Emilie Blond, Adeline Roux, Sybil Charriere, Marie-Caroline Michalski, Mathilde Di Filippo, Emile Levy, Alain Lachaux and Noël Peretti
    Citation: Orphanet Journal of Rare Diseases 2016 11:114
  18. Type 1 autoimmune pancreatitis (AIP) is clinically characterized by a response to steroid therapy. Despite having a favorable prognosis, AIP has a high relapse rate and factors predicting relapse in AIP patien...

    Authors: Yoshinori Ohno, Teru Kumagi, Tomoyuki Yokota, Nobuaki Azemoto, Yoshinori Tanaka, Kazuhiro Tange, Nobu Inada, Hideki Miyata, Yoshiki Imamura, Mitsuhito Koizumi, Taira Kuroda and Yoichi Hiasa
    Citation: Orphanet Journal of Rare Diseases 2016 11:103
  19. Idiopathic achalasia is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter relaxation in response to deglutition. Patients with acha...

    Authors: Dhyanesh A. Patel, Hannah P. Kim, Jerry S. Zifodya and Michael F. Vaezi
    Citation: Orphanet Journal of Rare Diseases 2015 10:89
  20. The aim of the present national prospective population-based study was to assess the early morbidity of esophageal atresia (EA).

    Authors: Anne Schneider, Sébastien Blanc, Arnaud Bonnard, Naziha Khen-Dunlop, Frédéric Auber, Anne Breton, Guillaume Podevin, Rony Sfeir, Virginie Fouquet, Catherine Jacquier, Jean-Louis Lemelle, Frédéric Lavrand, François Becmeur, Thierry Petit, Marie-Laurence Poli-Merol, Frédéric Elbaz…
    Citation: Orphanet Journal of Rare Diseases 2014 9:206