Hereditary multiple intestinal atresia associated with protein-losing enteropathy and immunoglobulins loss

Intestinal atresia is one of the causes of bowel obstruction in the neonatal period. Hereditary multiple intestinal atresia (HMIA) is a rare form of intestinal atresia due to autosomal recessive inherited disease affecting the tetratricopeptide repeat domain-7A gene. This condition has been associated with primary immunodeficiency. Here, we report an infant who was diagnosed with HMIA and found to have secondary immune deficiency due to protein-losing enteropathy.

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Publication Details

Journal
BMJ Case Reports
Published
2025-05-01
DOI
https://doi.org/10.1136/bcr-2024-262190
Primary Topic
Intestinal Malrotation and Obstruction Disorders
Type
article
Field-Weighted Citation Impact
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article

Hereditary multiple intestinal atresia associated with protein-losing enteropathy and immunoglobulins loss

Yasser Wali, Anood Al Rawahi, Yusriya Al Rawahi, Hilal Al Mandhari
BMJ Case Reports
Intestinal Malrotation and Obstruction Disorders
article

Hereditary multiple intestinal atresia associated with protein-losing enteropathy and immunoglobulins loss

Yasser Wali, Anood Al Rawahi, Yusriya Al Rawahi, Hilal Al Mandhari
article en

Abstract

Intestinal atresia is one of the causes of bowel obstruction in the neonatal period. Hereditary multiple intestinal atresia (HMIA) is a rare form of intestinal atresia due to autosomal recessive inherited disease affecting the tetratricopeptide repeat domain-7A gene. This condition has been associated with primary immunodeficiency. Here, we report an infant who was diagnosed with HMIA and found to have secondary immune deficiency due to protein-losing enteropathy.

BMJ Case ReportsVol. 18(5)
Oman Medical College (OM), Sultan Qaboos University Hospital (OM), Sultan Qaboos University (OM), Alexandria University (EG)
Good health and well-being
Openalex Percentile: Top 83%
Intestinal Malrotation and Obstruction Disorders
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