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G6PD mangel

Sist oppdatert: Sist revidert:
Sist revidert av:


Definisjon:
G6PD-mangel er en medfødt type hemolytisk anemi
Forekomst:
Prevalens av tilstanden er korrelert med den geografiske utbredelsen av malaria
Symptomer:
Oftest asymptomatisk, men tilstanden mistenkes hos barn med en familiehistorie på gulsott, anemi, splenomegali eller gallestein, særlig hvis barnet stammer fra Afrika eller Middelhavslandene
Funn:
Ingen spesifikke kliniske funn
Diagnostikk:
Det finnes en fluorescerende hurtigtest
Behandling:
Hovedbehandlingen er å unngå oksidative stressorer
  1. Mehta AB. Glucose-6-phosphate dehydrogenase deficiency. BMJ Best Practice, last updated January, 2018. bestpractice.bmj.com  
  2. Frank JE. Diagnosis and management of G6PD deficiency. Am Fam Physician 2005; 72: 1277-82. PubMed  
  3. 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. PubMed  
  4. He Y, Zhang Y, Chen X, et al.. Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype-phenotype association throughout an activity distribution. Sci Rep. 2020 Oct 13;10(1):17106. PMID: 33051526 PubMed  
  5. Hermiston ML, Mentzer WC. A practical approach to the evaluation of the anemic child. Pediatr Clin North Am 2002; 49: 877-91. PubMed  
  6. Manganelli G, Masullo U, Passarelli S, Filosa S. Glucose-6-phosphate dehydrogenase deficiency: disadvantages and possible benefits. Cardiovasc Hematol Disord Drug Targets. 2013 Mar 1. 13(1):73-82.
  7. Kaplan M, Hammerman C, Vreman HJ, Stevenson DK, Beutler E. Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes. J Pediatr 2001; 139: 137-40. PubMed  
  8. Bizzarro MJ, Colson E, Ehrenkranz RA. Differential diagnosis and management of anemia in the newborn. Pediatr Clin North Am 2004; 51: 1087-107,xi.
  9. Edwards CQ. Anemia and the liver. Hepatobiliary manifestations of anemia. Clin Liver Dis 2002; 6: 891-907,viii.
  10. Bhutani VK, Johnson LH, Keren R. Diagnosis and management of hyperbilirubinemia in the term neonate: for a safer first week. Pediatr Clin North Am 2004; 51: 843-61,vii.
  11. American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation published correction appears in Pediatrics 2004;114:1138. Pediatrics 2004; 114: 297-316. Pediatrics  
  12. Nair PA, Al Khusaiby SM. Kernicterus and G6PD deficiency-a case series from Oman. J Trop Pediatr 2003; 49: 74-7. PubMed  
  13. Sharma SC, Sharma S, Gulati OP. Pycnogenol prevents haemolytic injury in G6PD deficient human erythrocytes. Phytother Res 2003; 17: 671-4. PubMed  
  • Terje Johannessen, professor i allmennmedisin, Trondheim (tilpasning til NEL)

Tidligere fagmedarbeidere

  • Hans Carl Hasselbalch, professor, overlæge, dr.med., Hæmatologisk afd., Roskilde Sygehus, Københavns Universitet