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

Ferreira, Helena; Ramos, Raquel Núñez; Quan, Cinthia Flores; Ferreiro, Susana; Ruiz, V.; Goñi, Javi Juampérez; Bernabeu, Jesús Quintero; Segarra, Óscar; Beltran, M.

doi:10.5223/pghn.2018.21.2.134

Cited by 9 publications

(4 citation statements)

References 11 publications

(35 reference statements)

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“…The presentation of CRD on esophagogastroduodenoscopy (EGD) is quite striking, with authors describing white duodenal and jejunal mucosa (Charcosset et al 2008 ; Ferreira et al 2018 ). This correlates with fat-laden enterocytes on histology and numerous lipid droplets appreciable on electron microscopy (Georges et al 2011 ; Ferreira et al 2018 ). These lipid droplets may be highlighted with oil red O stain on histologic preparation.…”

Section: Enzymes and Metabolismmentioning

confidence: 99%

The genetics of monogenic intestinal epithelial disorders

2022

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Monogenic intestinal epithelial disorders, also known as congenital diarrheas and enteropathies (CoDEs), are a group of rare diseases that result from mutations in genes that primarily affect intestinal epithelial cell function. Patients with CoDE disorders generally present with infantile-onset diarrhea and poor growth, and often require intensive fluid and nutritional management. CoDE disorders can be classified into several categories that relate to broad areas of epithelial function, structure, and development. The advent of accessible and low-cost genetic sequencing has accelerated discovery in the field with over 45 different genes now associated with CoDE disorders. Despite this increasing knowledge in the causal genetics of disease, the underlying cellular pathophysiology remains incompletely understood for many disorders. Consequently, clinical management options for CoDE disorders are currently limited and there is an urgent need for new and disorder-specific therapies. In this review, we provide a general overview of CoDE disorders, including a historical perspective of the field and relationship to other monogenic disorders of the intestine. We describe the genetics, clinical presentation, and known pathophysiology for specific disorders. Lastly, we describe the major challenges relating to CoDE disorders, briefly outline key areas that need further study, and provide a perspective on the future genetic and therapeutic landscape.

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Section: Enzymes and Metabolismmentioning

confidence: 99%

The genetics of monogenic intestinal epithelial disorders

2022

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“…The SAR1B gene is also expressed in the muscle and heart, suggesting tissue-specific expression of abnormal SAR1B protein. Missense mutations represent the majority of SAR1B mutations, while truncating variants induce more severe phenotypes (6,7,(14)(15)(16)(17).…”

Section: Chylomicron Retention Disease (Or Anderson's Disease Omim 24...mentioning

confidence: 99%

Lipids Responsible for Intestinal or Hepatic Disorder

Sissaoui

Cochet

Poinsot

et al. 2021

J. pediatr. gastroenterol. nutr.

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Familial intestinal hypocholesterolemias, such as abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease, are rare genetic diseases that result in a defect in the synthesis or secretion of lipoproteins containing apolipoprotein B. In children, these conditions present with diarrhoea and growth failure, whereas adults present with neuromuscular, ophthalmological, and hepatic symptoms. Simple laboratory investigations have shown that diagnosis can be made from findings of dramatically decreased cholesterol levels, deficiencies in fat-soluble vitamins (mostly vitamin E), endoscopic findings of the characteristic white intestinal mucosa, and fat-loaded enterocytes in biopsy samples. Genetic analysis is used to confirm the diagnosis. Treatment is based on a low-fat diet with essential fatty acid supplementation, high doses of fat-soluble vitamins, and regular and life-long follow-up. The present study examines cases and literature findings of these conditions, and emphasises the need to explore severe hypocholesterolemia and deficiencies in fat-soluble vitamins to not miss these rare, but easy to diagnose and treat, disorders.

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“…Gastrointestinal symptoms as diarrhea, vomiting, abdominal distention that lead to failure to thrive (FTT) are the most prominent in CRD patients that appear at the beginning of life. The absence of characteristic signs and symptoms of CRD often delays diagnosis [ 4 ]. Hepatomegaly with elevated liver enzymes may manifest in 20% of CRD patients [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria

et al. 2021

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Background Chylomicron retention disease (Anderson disease) is a result for variant of the SAR1B gene. It is a rare autosomal recessive hereditary disorder with most incidence in infant. It is characterized by lipid malabsorption syndrome with fatty, chronic diarrhea, and growth retardation. Case presentation We report a case of a 19-month Syrian boy who presented with vomiting, growth failure, and chronic, fatty diarrhea. Upper gastrointestinal endoscopy showed whitish appearing duodenal mucosa and small intestinal biopsies revealed steatosis of enterocytes. Genetic testing confirmed chylomicron retention disease with the first description of variant located in the fourth helix of sar1b protein. The patient is treated with nutritional supplements and fat-soluble vitamin supplementation resulting in significant improvement. Conclusion Early endoscopy is recommended in infants with persistent vomiting and failure to thrive due to high suspicion for a disorder of hypocholesterolemia. Early diagnosis and treatment are essential to avoid serious clinical complications, especially neurological impairment.

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

Cited by 9 publications

References 11 publications

The genetics of monogenic intestinal epithelial disorders

The genetics of monogenic intestinal epithelial disorders

Lipids Responsible for Intestinal or Hepatic Disorder

Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria

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