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Case Reports: Rare disease
Novel mutation causing congenital disorder of glycosylation in a child with recurrent anasarca
  1. Surabhi Dogra,
  2. Karunesh Kumar,
  3. Smita Malhotra and
  4. Anupam Sibal
  1. Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India
  1. Correspondence to Dr Surabhi Dogra; dograsurabhi91{at}gmail.com

Abstract

Protein-losing enteropathy entails an excessive loss of proteins in intestinal tract due to underlying primary or secondary pathologies. It is suspected in patients with chronic diarrhoea and peripheral oedema. Faecal alpha 1 antitrypsin clearance is the gold standard for diagnosis. Treatment includes a high-protein fat-modified diet, and replacements for micronutrients, electrolytes and vitamin deficiencies. Prognosis is variable depending on the underlying cause.

  • Paediatrics (drugs and medicines)
  • Gastroenterology
  • Genetics

https://doi.org/10.1136/bcr-2021-245884

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    Footnotes

    • Contributors SD prepared the manuscript; KK helped in selecting the case and preparing the manuscript; SM reviewed the literature and the manuscript; and AS gave the final approval.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.