Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
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Coexistence of Gilbert Syndrome and Hereditary Spherocytosis in a Child Presenting with Extreme Jaundice

  • Lee, Jae Hee (Department of Pediatrics, Chosun University School of Medicine) ;
  • Moon, Kyung Rye (Department of Pediatrics, Chosun University School of Medicine)
  • Received : 2014.10.08
  • Accepted : 2014.12.01
  • Published : 2014.12.30
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Abstract

Gilbert syndrome is the most common inherited disorder of bilirubin glucuronidation. It is characterized by intermittent episodes of jaundice in the absence of hepatocellular disease or hemolysis. Hereditary spherocytosis is the most common inherited hemolytic anemia and is characterized by spherical, osmotically fragile erythrocytes that are selectively trapped by the spleen. The patients have variable degrees of anemia, jaundice, and splenomegaly. Hereditary spherocytosis usually leads to mild-to-moderate elevation of serum bilirubin levels. Severe hyperbilirubinemia compared with the degree of hemolysis should be lead to suspicion of additional clinical conditions such as Gilbert syndrome or thalassemia. We present the case of a 12-year-old boy with extreme jaundice and nausea. The diagnosis of hereditary spherocytosis was confirmed by osmotic fragility test results and that of Gilbert syndrome by genetic analysis findings.

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References

  1. Owens D, Evans J. Population studies on Gilbert's syndrome. J Med Genet 1975;12:152-6. https://doi.org/10.1136/jmg.12.2.152
  2. Fretzayas A, Moustaki M, Liapi O, Karpathios T. Gilbert syndrome. Eur J Pediatr 2012;171:11-5. https://doi.org/10.1007/s00431-011-1641-0
  3. Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ; General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update. Br J Haematol 2012;156:37-49. https://doi.org/10.1111/j.1365-2141.2011.08921.x
  4. Tamary H, Aviner S, Freud E, Miskin H, Krasnov T, Schwarz M, et al. High incidence of early cholelithiasis detected by ultrasonography in children and young adults with hereditary spherocytosis. J Pediatr Hematol Oncol 2003;25:952-4. https://doi.org/10.1097/00043426-200312000-00009
  5. Sieg A, Arab L, Schlierf G, Stiehl A, Kommerell B. Prevalence of Gilbert's syndrome in Germany. Dtsch Med Wochenschr 1987;112:1206-8. https://doi.org/10.1055/s-2008-1068222
  6. Kim YH, Yeon JE, Jung GM, Kim HJ, Kim JS, Byun KS, et al. A study of polymorphism in UDP-glucuronosyltransferase 1 (UGT-1A1) promoter gene in Korean patients with Gilbert's syndrome. Taehan Kan Hakhoe Chi 2002;8:132-8.
  7. Muraca M, Fevery J. Influence of sex and sex steroids on bilirubin uridine diphosphate-glucuronosyltransferase activity of rat liver. Gastroenterology 1984;87:308-13.
  8. Monaghan G, Ryan M, Seddon R, Hume R, Burchell B. Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 1996;347:578-81. https://doi.org/10.1016/S0140-6736(96)91273-8
  9. Maruo Y, D'Addario C, Mori A, Iwai M, Takahashi H, Sato H, et al. Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum Genet 2004;115:525-6. https://doi.org/10.1007/s00439-004-1183-x
  10. Yamamoto K, Sato H, Fujiyama Y, Doida Y, Bamba T. Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. Biochim Biophys Acta 1998;1406:267-73. https://doi.org/10.1016/S0925-4439(98)00013-1
  11. Lim JW, Choi JH, Nam YH, Seo IS, Yoon SM, Koo MS. A case of congenital hemolytic anemia of unknown cause combined with Gilbert's syndrome. Korean J Hematol 2008;43:58-61. https://doi.org/10.5045/kjh.2008.43.1.58
  12. Lee MJ, Chang YH, Kang SH, Mun SK, Kim H, Han CJ, et al. A case of hereditary spherocytosis coexisting with Gilbert's syndrome. Korean J Gastroenterol 2013;61:166-9. https://doi.org/10.4166/kjg.2013.61.3.166
  13. Hong YS, Jin JY, Lee WR. A case of Gilbert's syndrome with severe neonatal hyperbilirubinemia. J Korean Soc Neonatol 2010;17:266-9. https://doi.org/10.5385/jksn.2010.17.2.266
  14. Lee HJ, Moon HS, Lee ES, Kim SH, Sung JK, Lee BS, et al. A case of concomitant Gilbert's syndrome and hereditary spherocytosis. Korean J Hepatol 2010;16:321-4. https://doi.org/10.3350/kjhep.2010.16.3.321
  15. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet 2008;372:1411-26. https://doi.org/10.1016/S0140-6736(08)61588-3
  16. Bader-Meunier B, Gauthier F, Archambaud F, Cynober T, Miélot F, Dommergues JP, et al. Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. Blood 2001;97:399-403. https://doi.org/10.1182/blood.V97.2.399
  17. Iijima S, Ohzeki T, Maruo Y. Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II. Yonsei Med J 2011;52:369-72. https://doi.org/10.3349/ymj.2011.52.2.369
  18. Sharma S, Vukelja SJ, Kadakia S. Gilbert's syndrome co-existing with and masking hereditary spherocytosis. Ann Hematol 1997;74:287-9. https://doi.org/10.1007/s002770050302
  19. Garg PK, Kumar A, Teckchandani N, Hadke NS. Hereditary spherocytosis coexisting with Gilbert's syndrome: a diagnostic dilemma. Singapore Med J 2008;49:e308-9.
  20. del Giudice EM, Perrotta S, Nobili B, Specchia C, d'Urzo G, Iolascon A. Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood 1999;94:2259-62.

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