A Rare Cause of Fat Malabsorption in Children: Chylomicron Retention Disease: A Case Report

YAVUZ S., TÜMGÖR G., KUYUCU Y., POLAT S.

International Journal of Pediatrics, cilt.9, sa.6, ss.13747-13752, 2021 (ESCI) identifier

  • Yayın Türü: Makale / Vaka Takdimi
  • Cilt numarası: 9 Sayı: 6
  • Basım Tarihi: 2021
  • Doi Numarası: 10.22038/ijp.2021.56367.4430
  • Dergi Adı: International Journal of Pediatrics
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Directory of Open Access Journals
  • Sayfa Sayıları: ss.13747-13752
  • Anahtar Kelimeler: Children, Chylomicron Retention Disease, Malabsorption, SAR1B gene, MUTATIONS
  • Çukurova Üniversitesi Adresli: Evet

Özet

Background: Chylomicron retention disease is an autosomal recessive disorder causing malabsorption of intestinal fat. It is extremely rare. This report is presented because although the condition is rare in cases presenting with fatty diarrhea, inability to gain weight, and abdominal distension, it should nevertheless be considered.