G6PD Deficiency Resulting In Massive Hemolysis and Acute Renal Failure: A Case Report

Yıl 2021, Cilt: 1 Sayı: 1, 25 - 29, 29.10.2021

Merve Eren Durmuş , İbrahim Şenel Yalçın Yasin Şahintürk

Öz

Glucose 6 phosphate dehydrogenase (G6PD) is an intracellular enzyme that protects cells from oxidative stress by catalyzing the first step of penthose phosphate pathway. Since erythrocytes do not have mitochondria, pentose phosphate pathway is the only resource for NADPH production. Decreased NADPH production in G6PD deficient erythrocytes, results in susceptibility to oxidative damage and hemolysis eventually. G6PD deficiency is an X linked hereditary disorder and the most common enzyme deficiency in the world. Since the patients who have G6PD deficiency may be asymptomatic the actual incidence cannot be estimated. Usually hemolytic episodes resolves itself. However, in some cases it may end up with severe complications such as acute renal failure.
A 43 year old male patient was admitted to our emergency department with jaundice. His complete blood count and biochemical test results were consistent with acute hemolysis; further diagnostic tests evaluating hemolytic anemia, low G6PD levels indicated that G6PD deficiency is the most probable etiology. When a more detailed anamnesis obtained, it is learned that the patient had eaten fava beans for the first time in his life. Since the patient was anuric and his renal function tests were worsening, we planned hemodialysis, several transfusions and therapeutic plasma exchange (TPE). Our case is a rare one in which severe hemolysis and acute renal failure developed following fava ingestion due to G6PD deficiency and TPE and hemolysis were successful.

Anahtar Kelimeler

G6PD, plasmapheresis, therapeutic plasma exchange (TPE) severe hemolysis, acute renal failure

Kaynakça

• 1.Cappellini, M. D. & Fiorelli, G. Glucose-6-phosphate dehydrogenase deficiency. Lancet 2018; 371, 64-74, doi:10.1016/S0140-6736(08)60073-2.
• 2.Bubp, J., Jen, M. & Matuszewski, K. Caring for Glucose-6-Phosphate Dehydrogenase (G6PD)-Deficient Patients: Implications for Pharmacy. P & T : a peer-reviewed journal for formulary management 2015; 40, 572-574.
• 3.Palmer, L. et al. ICSH recommendations for the standardization of nomenclature and grading of peripheral blood cell morphological features. International journal of laboratory hematology 2015; 37, 287-303, doi:10.1111/ijlh.12327.
• 4.Harcke, S. J., Rizzolo, D. & Harcke, H. T. G6PD deficiency: An update. JAAPA : official journal of the American Academy of Physician Assistants 2019; 32, 21-26, doi:10.1097/01.JAA.0000586304.65429.a7.
• 5.Spencer, N. Y. & Stanton, R. C. Glucose 6-phosphate dehydrogenase and the kidney. Current opinion in nephrology and hypertension 2017; 26, 43-49, doi:10.1097/MNH.0000000000000294.
• 6.Cunningham, A. D., Colavin, A., Huang, K. C. & Mochly-Rosen, D. Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants. Cell reports 2017; 18, 2592-2599, doi:10.1016/j.celrep.2017.02.048.
• 7.Riganti, C., Gazzano, E., Polimeni, M., Aldieri, E. & Ghigo, D. The pentose phosphate pathway: an antioxidant defense and a crossroad in tumor cell fate. Free radical biology & medicine 2012; 53, 421-436, doi:10.1016/j.freeradbiomed.2012.05.006.
• 8.Tsantes, A. E., Bonovas, S., Travlou, A. & Sitaras, N. M. Redox imbalance, macrocytosis, and RBC homeostasis. Antioxidants & redox signaling 2006; 8, 1205-1216, doi:10.1089/ars.2006.8.1205.
• 9.Luzzatto, L. & Arese, P. Favism and Glucose-6-Phosphate Dehydrogenase Deficiency. The New England journal of medicine 2018; 378, 1068-1069, doi:10.1056/NEJMc1801271.
• 10.Beutler, E. G6PD deficiency. Blood 1994; 84, 3613-3636.
• 11.Galiano, S. et al. Favism in the African type of glucose-6-phosphate dehydrogenase deficiency (A-). Bmj 1990; 300, 236, doi:10.1136/bmj.300.6719.236.
• 12.Torres, C. D. & Chandia, C. M. [Favism presenting as an acute renal failure: report of one case]. Revista medica de Chile 2012; 140, 1043-1045, doi:10.4067/S0034-98872012000800011.
• 13.Symvoulidis, A., Voudiclaris, S., Mountokalakis, T. & Pougounias, H. Acute renal failure in G.-6-P.D. Lancet 1972; 2, 819-820.
• 14.Kaul, A. et al. G6PD deficiency is not an uncommon cause of pigment nephropathy. Saudi Journal of Kidney Diseases and Transplantation 2018; 29, 1371-1375, doi:10.4103/1319-2442.248316.
• 15.Satish, S. et al. Recurrent acute renal failure. Indian journal of nephrology 2010; 20, 217-219, doi:10.4103/0971-4065.73444. 16.Luzzatto, L. Glucose 6-phosphate dehydrogenase deficiency: from genotype to phenotype. Haematologica 2006; 91, 1303-1306.
• 17.Balinsky, D. et al. Glucose-6-phosphate dehydrogenase Johannesburg: a new variant with reduced activity in a patient with congenital non-spherocytic haemolytic anaemia. British journal of haematology 1973; 25, 385-392, doi:10.1111/j.1365-2141.1973.tb01749.x.
• 18.Zager, R. A. Rhabdomyolysis and myohemoglobinuric acute renal failure. Kidney international 1996; 49, 314-326, doi:10.1038/ki.1996.48.
• 19.Eziokwu, A. S. & Angelini, D. New Diagnosis of G6PD Deficiency Presenting as Severe Rhabdomyolysis. Cureus 2018; 10, e2387, doi:10.7759/cureus.2387.
• 20.Szczepiorkowski, Z. M. et al. Guidelines on the use of therapeutic apheresis in clinical practice--evidence-based approach from the Apheresis Applications Committee of the American Society for Apheresis. Journal of clinical apheresis 2010; 25, 83-177, doi:10.1002/jca.20240.