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2025, Number 1

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Rev Nefrol Dial Traspl 2025; 45 (1)

A Rare Cause of Acute Kidney Injury: G6PD Deficiency and Rhabdomyolysis

Sıla KN

Language: English
References: 20
Page: 43-48
PDF size: 243.75 Kb.


ABSTRACT

G6PD deficiency, an X-linked genetic disorder, typically induces hemolytic episodes under oxidative stress from factors like infections or certain foods. Our report involves a 31-year-old Syrian male who developed acute kidney injury due to severe rhabdomyolysis, intravascular hemolysis, and severe methemoglobinemia three days after his first consumption of fava beans. Diagnosed with G6PD deficiency, he needed hemodialysis for a while due to severe anuric acute kidney injury. Genetic testing and decreased enzymatic activity confirmed a hemizygous c.563 C›T p.ser188phe mutation associated with the Mediterranean variant of G6PD deficiency. This case underscores the rare but significant risk of complications that have rhabdomyolysis and acute kidney injury in G6PD deficiency, especially following fava bean consumption. Our findings highlight the importance of early recognition and comprehensive management of these severe complications in populations predisposed to G6PD deficiency. This case adds to the limited literature on the triad associated with G6PD deficiency, which includes severe methemoglobinemia, rhabdomyolysis, and acute hemolytic crisis caused by favism.


REFERENCES

  1. Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008;371(9606):64-74.

  2. Schuurman M, van Waardenburg D, Da CostaJ, Niemarkt H, Leroy P. Severe hemolysis andmethemoglobinemia following fava beans ingestionin glucose-6-phosphatase dehydrogenase deficiency:case report and literature review. Eur J Pediatr.2009;168(7):779-782.

  3. Talwar M, Krishnamurthy S, Parameswaran N,Delhikumar CG, Haridasan S, Srinivas BH. Severeacute kidney injury owing to rhabdomyolysis andintravascular haemolysis in an 11-year-old childwith G6PD deficiency. Pediatric Int Child Health.2019;39(2):150-153.

  4. De Flora A, Benatti U, Guida L, Forteleoni G,Meloni T. Favism: disordered erythrocyte calciumhomeostasis. Blood. 1985;66(2):294-297.

  5. Foltz LM, Dalal BI, Wadsworth LD, Broady R, ChiK, Eisenhauer E, et al. Recognition and managementof methemoglobinemia and hemolysis in a G6PDdeficientpatient on experimental anticancer drugTriapine. Am J Hematol. 2006;81(3):210-1. Doi:10.1002/ajh.20547.

  6. Ata F, Muthanna B, Javed S, Uddin M, Yassin MA.Favism Induced Methemoglobinemia in G6DPDeficient Patients: Case Series and Review ofLiterature. Blood. 2020;136 (Supplement 1):11-12.

  7. Al-Dubai H, Al-Mashdali A, Hailan Y. Acutehemolysis and methemoglobinemia secondaryto fava beans ingestion in a patient with G6PDdeficiency: A case report of a rare co-occurrence.Medicine (Baltimore). 2021;100(47):e27904. Doi:10.1097/MD.0000000000027904.

  8. Hassan KS, Al-Riyami AZ, Al-Huneini M,Al-Farsi K, Al-Khabori M. Methemoglobinemiain an elderly patient with glucose-6-phosphatedehydrogenase deficiency: a case report. Oman MedJ. 2014;29(2):135-137. Doi: 10.5001/omj.2014.33.

  9. Haymond S, Cariappa R, Eby CS, Scott MG.Laboratory assessment of oxygenation inmethemoglobinemia. Clin Chem. 2005;51(2):434-44. Doi: 10.1373/clinchem.2004.035154.

  10. Mullick P, Kumar A, Dayal M, Babbar S, KumarA. Aniline-induced methaemoglobinaemia ina glucose-6-phosphate dehydrogenase enzymedeficient patient. Anaesthesia Intensive Care.2007;35(2):286-288.

  11. Bresolin N, Bet L, Moggio M, Meola G,Fortunato F, Comi G, et al. Muscle glucose-6-phosphate dehydrogenase deficiency. J Neurol.1989;236(4):193-198.

  12. Ninfali P, Baronciani L, Bardoni A, BresolinN. Muscle expression of glucose-6-phosphatedehydrogenase deficiency in different variants. ClinGenet. 1995;48(5):232-237.

  13. Ninfali P, Bresolin N, Baronciani L, Fortunato F,Comi G, Magnani M, et al. Glucose-6-phosphatedehydrogenase Lodi844C: a study on its expression inblood cells and muscle. Enzyme. 1991;45(4):180-187.

  14. Mangat C, Inoue S, Saah E, Sharman M. Acutehaemolytic anaemia and myolysis due to G6PDdeficiency. BMJ Case Rep. 2014;2014:bcr2014203631.Doi: 10.1136/bcr-2014-203631.

  15. Eziokwu AS, Angelini D. New Diagnosis of G6PDDeficiency Presenting as Severe Rhabdomyolysis.Cureus. 2018;10(3):e2387. Doi: 10.7759/cureus.2387.

  16. Kimmick G, Owen J. Rhabdomyolysis andhemolysis associated with sickle cell trait andglucose-6-phosphate dehydrogenase deficiency.South Med J. 1996;89(11):1097-1098.

  17. Yu R, Chen CR, Evans D, Qing X, GotesmanM, Chandramohan G, et al. Glucose-6-phosphatedehydrogenase deficiency presenting withrhabdomyolysis in a patient with coronavirusdisease 2019 pneumonia: a case report. J MedCase Rep. 2022;16(1):106. https://doi.org/10.1186/s13256-022-03322-w

  18. Awab GR, Aaram F, Jamornthanyawat N,Suwannasin K, Pagornrat W, Watson JA, et al.Protective effect of Mediterranean-type glucose-6-phosphate dehydrogenase deficiency againstPlasmodium vivax malaria. Elife. 2021;10:e62448.Doi: 10.7554/eLife.62448.

  19. Sirdah M, Reading NS, Perkins SL, Shubair M,Aboud L, Prchal JT. Hemolysis and MediterraneanG6PD mutation (c.563 C>T) and c.1311 C>Tpolymorphism among Palestinians in the Gaza Strip.Blood Cells Mol Dis. 2012;48(4):203-208.

  20. Diegues A, Simões P, Ceriz T, Lopes AR, Tomé E.Favism: A Case Report. Cureus. 2022;14(3): e23269.Doi: 10.7759/cureus.23269.




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