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Dehydrated hereditary stomatocytosis is associated with neonatal hepatitis.
Br J Haematol. 2004 Jul; 126(2):272-6.BJ

Abstract

Dehydrated hereditary stomatocytosis (DHSt) is an inherited haemolytic anaemia associated with increased red cell membrane permeability to Na(+) and K(+). It is increasingly recognized that a syndrome of self-limiting perinatal ascites can accompany the haemolysis. The cause of the perinatal ascites is unknown, and it has been argued that this could be due to cardiovascular, hepatic or lymphatic problems. We describe the case of a 16-year-old girl who presented neonatally with abnormal liver function tests and ascites. She was extensively investigated at that time. A liver biopsy showed hepatitis and fatty changes. Her ascites resolved within 6 months. At the age of 15 years, she developed an episode of acute haemolysis and was re-investigated. A diagnosis of DHSt was made. Pseudohyperkalaemia, due to ex vivo loss of K(+) from red cells, was present. This study confirms the previously noted association of DHSt, pseudohyperkalaemia and perinatal ascites, and suggests that the latter is of predominantly hepatic origin.

Authors+Show Affiliations

Department of Paediatric Haematology, King's College Hospital, London, UK. david.rees@kcl.ac.ukNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15238150

Citation

Rees, David C., et al. "Dehydrated Hereditary Stomatocytosis Is Associated With Neonatal Hepatitis." British Journal of Haematology, vol. 126, no. 2, 2004, pp. 272-6.
Rees DC, Portmann B, Ball C, et al. Dehydrated hereditary stomatocytosis is associated with neonatal hepatitis. Br J Haematol. 2004;126(2):272-6.
Rees, D. C., Portmann, B., Ball, C., Mieli-Vergani, G., Nicolaou, A., Chetty, M. C., & Stewart, G. W. (2004). Dehydrated hereditary stomatocytosis is associated with neonatal hepatitis. British Journal of Haematology, 126(2), 272-6.
Rees DC, et al. Dehydrated Hereditary Stomatocytosis Is Associated With Neonatal Hepatitis. Br J Haematol. 2004;126(2):272-6. PubMed PMID: 15238150.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dehydrated hereditary stomatocytosis is associated with neonatal hepatitis. AU - Rees,David C, AU - Portmann,Bernard, AU - Ball,Colin, AU - Mieli-Vergani,Giorgina, AU - Nicolaou,Anna, AU - Chetty,Margaret C, AU - Stewart,Gordon W, PY - 2004/7/9/pubmed PY - 2004/9/1/medline PY - 2004/7/9/entrez SP - 272 EP - 6 JF - British journal of haematology JO - Br J Haematol VL - 126 IS - 2 N2 - Dehydrated hereditary stomatocytosis (DHSt) is an inherited haemolytic anaemia associated with increased red cell membrane permeability to Na(+) and K(+). It is increasingly recognized that a syndrome of self-limiting perinatal ascites can accompany the haemolysis. The cause of the perinatal ascites is unknown, and it has been argued that this could be due to cardiovascular, hepatic or lymphatic problems. We describe the case of a 16-year-old girl who presented neonatally with abnormal liver function tests and ascites. She was extensively investigated at that time. A liver biopsy showed hepatitis and fatty changes. Her ascites resolved within 6 months. At the age of 15 years, she developed an episode of acute haemolysis and was re-investigated. A diagnosis of DHSt was made. Pseudohyperkalaemia, due to ex vivo loss of K(+) from red cells, was present. This study confirms the previously noted association of DHSt, pseudohyperkalaemia and perinatal ascites, and suggests that the latter is of predominantly hepatic origin. SN - 0007-1048 UR - https://www.unboundmedicine.com/medline/citation/15238150/Dehydrated_hereditary_stomatocytosis_is_associated_with_neonatal_hepatitis_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0007-1048&date=2004&volume=126&issue=2&spage=272 DB - PRIME DP - Unbound Medicine ER -