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Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease

  • Ferreira, Helena (Department of Pediatric, Hospital da Senhora da Oliveira) ;
  • Ramos, Raquel Nunez (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Quan, Cinthia Flores (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Ferreiro, Susana Redecillas (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Ruiz, Vanessa Cabello (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Goni, Javi Juamperez (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Bernabeu, Jesus Quintero (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Canton, Oscar Segarra (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron) ;
  • Beltran, Marina Alvarez (Department of Pediatric and Gastroenterology, Hepatology, Nutritional Support and Liver Transplant Unit, Hospital Universitario Vall d'Hebron)
  • Received : 2017.07.18
  • Accepted : 2017.10.14
  • Published : 2018.04.15

Abstract

Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irreversible and desvantating complications.

Keywords

References

  1. Jaffe AC. Failure to thrive: current clinical concepts. Pediatr Rev 2011;32:100-7. https://doi.org/10.1542/pir.32-3-100
  2. Peretti N, Sassolas A, Roy CC, Deslandres C, Charcosset M, Castagnetti J, et al. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Orphanet J Rare Dis 2010;5:24. https://doi.org/10.1186/1750-1172-5-24
  3. Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, Samson-Bouma ME, et al. Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. Orphanet J Rare Dis 2011;6:78. https://doi.org/10.1186/1750-1172-6-78
  4. Peretti N, Roy CC, Sassolas A, Deslandres C, Drouin E, Rasquin A, et al. Chylomicron retention disease: a long term study of two cohorts. Mol Genet Metab 2009;97:136-42. https://doi.org/10.1016/j.ymgme.2009.02.003
  5. Sassolas A, Filippo MD, Aggerbeck LP, Peretti N, Samson-Bouma ME (2012). Anderson's Disease/ Chylomicron Retention Disease and Mutations in the SAR1B Gene, Mutations in Human Genetic Disease, Prof. David Cooper (Ed.), InTech, DOI: 10.5772/45975. Available from: https://www.intechopen.com/books/mutations-in-human-genetic-disease/anderson-s-disease-chylomicron-retention-disease-and-mutationsin-the-sar1b-gene.
  6. Papadogeorgou P, Roma E, Sassolas A, Orfanou I, Malliarou A, Sakka S, et al. Chylomicron retention disease: report of two cases from a Greek Island. J Pediatr Endocrinol Metab 2012;25:1191-4.
  7. Ben Ameur S, Aloulou H, Jlidi N, Kamoun F, Chabchoub I, Di Filippo M, et al. Chylomicron retention disease: a rare cause of chronic diarrhea. Arch Pediatr 2016;23:735-7. https://doi.org/10.1016/j.arcped.2016.04.010
  8. Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, et al. Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. Gene 2013;512:28-34. https://doi.org/10.1016/j.gene.2012.09.117
  9. Desaldeleer C, Henno S, Bruneau B, Dabadie A. Chylomicron retention disease. Dig Liver Dis 2013 45:e3. https://doi.org/10.1016/j.dld.2012.08.003
  10. Silvain M, Bligny D, Aparicio T, Laforet P, Grodet A, Peretti N, et al. Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. Clin Genet 2008;74:546-52. https://doi.org/10.1111/j.1399-0004.2008.01069.x
  11. Cefalu AB, Calvo PL, Noto D, Baldi M, Valenti V, Lerro P, et al. Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene. Metabolism 2010;59:463-7. https://doi.org/10.1016/j.metabol.2009.07.042

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