. A rare cause of congenital diarrhea in a Turkish newborn: tufting enteropathy

Kahvecioglu D., Yildiz D., Kilic A., Ince-Alkan B., ERDEVE Ö., KULOĞLU Z., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.56, sa.4, ss.440-443, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 56 Sayı: 4
  • Basım Tarihi: 2014
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.440-443
  • Anahtar Kelimeler: tufting enteropathy, congenital diarrhea, newborn, DYSPLASIA, INFANTS
  • Ankara Üniversitesi Adresli: Evet

Özet

Tufting enteropathy is an autosomal recessive congenital enteropathy presenting with early-onset severe intractable diarrhea. It presents with watery diarrhea that develops in the first days after birth and persists despite bowel rest. Growth is impaired, and most patients require total parenteral nutrition. The histological characteristic of tufting enteropathy is the presence of epithelial tufts. We hereby present a patient who was referred to our neonatal intensive care unit because of chronic diarrhea and diagnosed with tufting enteropathy according to histological examination. To the best of our knowledge, the newborn case presented here is the first one reported from Turkey. As TE is a very rare disease, it should be considered in patients with continuing diarrhea beginning in the first days of life.