Dehydrated Hereditary Stomatocytosis Presenting as Severe Perinatal Ascites and Cholestasis

J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):e52-e53. doi: 10.1097/MPG.0000000000002077.
No abstract available

MeSH terms

  • Anemia, Hemolytic, Congenital / complications
  • Anemia, Hemolytic, Congenital / diagnosis*
  • Anemia, Hemolytic, Congenital / therapy
  • Ascites / diagnostic imaging
  • Ascites / etiology
  • Cholestasis, Intrahepatic / complications
  • Cholestasis, Intrahepatic / diagnosis
  • Cholestasis, Intrahepatic / pathology
  • Cholestasis, Intrahepatic / therapy
  • Drainage
  • Female
  • Humans
  • Hydrops Fetalis / diagnosis*
  • Hydrops Fetalis / therapy
  • Infant
  • Infant, Premature
  • Ion Channels
  • Male
  • Pregnancy
  • Tomography, X-Ray Computed
  • Whole Genome Sequencing

Substances

  • Ion Channels
  • PIEZO1 protein, human

Supplementary concepts

  • Xerocytosis, hereditary