Chronic atrial and intestinal dysrhythmia: A rare genetic disorder of intestinal pseudo-obstruction.

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Tác giả: Kanya Ahuja, Nicole Baron, Martin Bialer, Julie Khlevner, Jennifer Mait-Kaufman, Shivany Pathania

Ngôn ngữ: eng

Ký hiệu phân loại: 615.71 Drugs affecting cardiovascular and hematopoietic systems

Thông tin xuất bản: United States : JPGN reports , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 748746

 Pediatric intestinal pseudo-obstruction (PIPO) is a rare and severe disorder of gastrointestinal (GI) motility
  patients with PIPO display signs and symptoms of intestinal obstruction in the absence of occluding lesions. Chronic atrial and intestinal dysrhythmia (CAID) syndrome is an exceedingly rare autosomal recessive disorder caused by mutations in the SGO1 gene
  SGO1 mutations disrupt the cohesin complex, a protein involved in chromosome organization during cell division and hence, DNA stability. CAID leads to both GI and cardiac dysfunction. This case report highlights an exceptional instance of early-onset pediatric CAID marked by recurrent pseudo-obstruction and, notably, developmental delay, which has not been previously described. The case emphasizes the importance of genetic evaluation in pediatric patients with unexplained pseudo-obstruction, and the importance of multidisciplinary management.
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