葡萄糖-6-磷酸脱氢酶缺乏症

Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008;371:64-74.

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Mason PJ, Bautista JM, Gilsanz F. G6PD deficiency: the genotype-phenotype association. Blood Rev. 2007;21:267-283.

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Youngster I, Arcavi L, Schechmaster R, et al. Medications and glucose-6-phosphate dehydrogenase deficiency: an evidence-based review. Drug Saf. 2010;33:713-726.

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Maisels MJ. Neonatal jaundice. Pediatr Rev. 2006;27:443-454.

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1.  WHO Working Group. Glucose-6-phosphate dehydrogenase deficiency. Bull World Health Organ. 1989;67:601-611.

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2.  Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008;371:64-74.

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3.  Mason PJ, Bautista JM, Gilsanz F. G6PD deficiency: the genotype-phenotype association. Blood Rev. 2007;21:267-283.

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4.  Luzzatto L. Glucose 6-phosphate dehydrogenase deficiency: from genotype to phenotype. Haematologica. 2006;9:1303-1306.

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5.  Beutler E. Glucose-6-phosphate dehydrogenase deficiency: a historical perspective. Blood. 2008;111:16-24.

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6.  Lim F, Vulliamy T, Abdalla SH. An Ashkenazi Jewish woman presenting with favism. J Clin Pathol. 2005;58:317-319.

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7.  Frank JE. Diagnosis and management of G6PD deficiency. Am Fam Physician. 2005;72:1277-1282.

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8.  Guindo A, Fairhurst RM, Doumbo OK, et al. X-linked G6PD deficiency protects hemizygous males but not heterozygous females against severe malaria. PLoS Med. 2007;4:e66.

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9.  Ruwende C, Khoo SC, Snow RW, et al. Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature. 1995;76:246-249.

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10.  Vulliamy TJ, Kaeda JS, Ait-Chafa D, et al. Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia. Br J Haematol. 1998;101:670-675.

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11.  Luzzatto L, Mehta AB, Vulliamy T. Glucose 6-phosphate dehydrogenase deficiency. In: Scriver CR, Beaudet AL, Sly WS, eds. The metabolic and molecular bases of inherited disease, 8th ed. New York, NY: McGraw Hill; 2001:4517-4553.

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13.  Mehta AB. Glucose-6-phosphate dehydrogenase deficiency. Prescr J. 1995;34:178-182.

14.  Monteiro WM, Franca GP, Melo GC, et al. Clinical complications of G6PD deficiency in Latin American and Caribbean populations: systematic review and implications for malaria elimination programmes. Malar J. 2014;13:70.

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15.  Youngster I, Arcavi L, Schechmaster R, et al. Medications and glucose-6-phosphate dehydrogenase deficiency: an evidence-based review. Drug Saf. 2010;33:713-726.

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16.  Maisels MJ. Neonatal jaundice. Pediatr Rev. 2006;27:443-454.

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17.  Beutler E, Gelbart T, Miller W. Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome. Blood Cells Mol Dis. 2002;28:104-107.

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18.  Steiner LA, Gallagher PG. Erythrocyte disorders in the perinatal period. Semin Perinatol. 2007;31:254-261.

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19.  Kaplan M, Rubaltelli FF, Hammerman C, et al. Conjugated bilirubin in neonates with glucose-6-phosphate dehydrogenase deficiency. J Pediatr. 1996;128:695-697.

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20.  Kaplan M, Rembaum P, Levy-Lahad E, et al. Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinanemia. Proc Natl Acad Sci USA. 1997;94:12128-12132.

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21.  Matthay KK, Mentzer WC. Erythrocyte enzymopathies in the newborn. Clin Haematol. 1981;10:31-55.

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22.  Meloni T, Forteleoni G, Noja G, et al. Increased prevalence of glucose-6-phosphate dehydrogenase deficiency in patients with cholelithiasis. Acta Haematol. 1991;85:76-78.

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23.  Fanello CI, Karema C, Avellino P, et al. High risk of severe anaemia after chlorproguanil-dapsone+artesunate antimalarial treatment in patients with G6PD (A-) deficiency. PLoS One. 2008;3:e4031.

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24.  Katar S, Devecioglu C, Ozbek MN, et al. Henna causes life-threatening hyperbilirubinaemia in glucose-6-phosphate dehydrogenase deficiency. Clin Exp Dermatol. 2007;32:235-236.

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25.  Arese P, De Flora A. Pathophysiology of hemolysis in glucose-6-phosphate dehydrogenase deficiency. Semin Hematol. 1990;27:1-40.

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26.  Fan YH, Lazenbery L, Foster E, et al. Improved quantitative method for G6PD deficiency detection. J Clin Lab Anal. 2007;21:107-113.

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27.  Beutler E, Mitchell M. Special modifications of the fluorescent screening method for glucose-6-phosphate dehydrogenase deficiency. Blood. 1968;32:816-818.

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28.  Beutler E, Blume KG, Kaplan JC, et al. International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis. Br J Haematol. 1977;35:331-340.

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29.  Wan GH, Lin KK, Tsai SC, et al. Decreased glucose-6-phosphate dehydrogenase (G6PD) activity and risk of senile cataract in Taiwan. Ophthalmic Epidemiol. 2006;13:109-114.

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30.  Elyassi AR, Rowshan HH. Perioperative management of the glucose-6-phosphate dehydrogenase deficient patient: a review of literature. Anesth Prog. 2009;56:86-91.

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31.  Renzaho AM, Husser E, Polonsky M. Should blood donors be routinely screened for glucose-6-phosphate dehydrogenase deficiency? A systematic review of clinical studies focusing on patients transfused with glucose-6-phosphate dehydrogenase-deficient red cells. Transfus Med Rev. 2014;28:7-17.

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32.  Ip S, Chung M, Kulig J, et al.; American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. An evidence-based review of important issues concerning neonatal hyperbilirubinemia. Pediatrics. 2004;114:e130-e153.

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33.  National Institute for Health and Care Excellence. Routine postnatal care of women and their babies. July 2006. http://www.nice.org.uk/CG37 (last accessed 10 October 2016).

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34.  American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics. 2004;114:297-316. [Erratum in: Pediatrics. 2004;114:1138.]

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35.  Bolton-Maggs PH, Langer JC, Iolascon A, et al. British Committee for Standards in Haematology. Working Party of the Haematology/Oncology Task Force. Update of guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen. Clin Med. 2002;2:440-443.

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36.  Holtrop PC, Ruedisueli K, Maisels, MJ. Double versus single phototherapy in low birth weight newborns. Pediatrics. 1992;90:674-677.

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37.  Mills JF, Tudehope D. Fibreoptic phototherapy for neonatal jaundice. Cochrane Database Syst Rev. 2001;(1):CD002060.

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38.  Thayyil S, Milligan DW. Single versus double volume exchange transfusion in jaundiced newborn infants. Cochrane Database Syst Rev. 2006;(4):CD004592.

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39.  Abu-Osba YK, Mallouh AA, Hann RW. Incidence and causes of sepsis in glucose-6-phosphate dehydrogenase deficient newborn infants. J Pediatr. 1989;114:748-752.

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40.  Abraham E. Glucose-6-phosphate dehydrogenase and sepsis:the jury is still out. Crit Care Med. 2007;35:655-656.

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