Literature DB >> 22689841

Intractable neonatal jaundice due to hereditary spherocytosis and Gilbert's syndrome.

Abdul Qader Tahir Ismail1, Anjum Gandhi, Nagui El-Shimy.   

Abstract

In this article the authors present a case of pathological neonatal jaundice resistant to phototherapy in a baby with a family history of Gilbert's syndrome and hereditary spherocytosis. Her presentation was ultimately explained with a diagnosis of both conditions, and required treatment with phenobarbitone. The authors discuss the mechanism by which Gilbert's syndrome results in hyperbilirubinaemia and its similarities with Crigler-Najjar syndrome. The presentation of hereditary spherocystosis in the neonatal period is also explored, as is the mechanism of exaggerated hyperbilirubinaemia when the two conditions co-exist.

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Year:  2011        PMID: 22689841      PMCID: PMC3149415          DOI: 10.1136/bcr.05.2011.4293

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  4 in total

1.  UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis.

Authors:  A Iolascon; M F Faienza; A Moretti; S Perrotta; E Miraglia del Giudice
Journal:  Blood       Date:  1998-02-01       Impact factor: 22.113

2.  Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis.

Authors:  E M del Giudice; S Perrotta; B Nobili; C Specchia; G d'Urzo; A Iolascon
Journal:  Blood       Date:  1999-10-01       Impact factor: 22.113

3.  Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome.

Authors:  G Monaghan; M Ryan; R Seddon; R Hume; B Burchell
Journal:  Lancet       Date:  1996-03-02       Impact factor: 79.321

4.  The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.

Authors:  P J Bosma; J R Chowdhury; C Bakker; S Gantla; A de Boer; B A Oostra; D Lindhout; G N Tytgat; P L Jansen; R P Oude Elferink
Journal:  N Engl J Med       Date:  1995-11-02       Impact factor: 91.245

  4 in total
  1 in total

Review 1.  A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates.

Authors:  Robert D Christensen; Hassan M Yaish; Patrick G Gallagher
Journal:  Pediatrics       Date:  2015-06       Impact factor: 7.124

  1 in total

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