Late-Life Presentation of Unsuspected G6PD Deficiency
Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is the commonest enzyme deficiency in humans with a wide range of possible clinical manifestations depending on the specific genetic variant in each case. Here we present the case of an 86-year-old male of African descent who acutely developed s...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Critical Care |
| Online Access: | http://dx.doi.org/10.1155/2018/8198565 |
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| author | Marcos Benchimol Laura Bernardo Madeira Ricardo de Oliveira-Souza |
| author_facet | Marcos Benchimol Laura Bernardo Madeira Ricardo de Oliveira-Souza |
| author_sort | Marcos Benchimol |
| collection | DOAJ |
| description | Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is the commonest enzyme deficiency in humans with a wide range of possible clinical manifestations depending on the specific genetic variant in each case. Here we present the case of an 86-year-old male of African descent who acutely developed symptoms of G6PD deficiency immediately after he received methylene blue for treating methemoglobinemia. The contrast between a low SO2 on pulse oximetry and a normal arterial gas sampling raised the possibility of methemoglobinemia. The patient was treated with packed red blood cells and folic acid, and a rapid clinical improvement followed by normalization of the red blood cell count ensued. In view of the patient’s advanced age, the lack of a history of similar episodes in the past, and the normal laboratory results during the hemolytic crisis, this case remained a diagnostic challenge for over three months, when a follow-up measure of G6DP activity eventually confirmed the diagnosis. A latent deficiency of G6PD may become clinically manifest under the appropriate triggering conditions even in elderly patients and in the absence of past or current clinical and laboratory evidence of G6PD deficiency. |
| format | Article |
| id | doaj-art-9d27bd9c02854157ada64461cc18b74c |
| institution | Kabale University |
| issn | 2090-6420 2090-6439 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Critical Care |
| spelling | doaj-art-9d27bd9c02854157ada64461cc18b74c2025-08-20T03:38:15ZengWileyCase Reports in Critical Care2090-64202090-64392018-01-01201810.1155/2018/81985658198565Late-Life Presentation of Unsuspected G6PD DeficiencyMarcos Benchimol0Laura Bernardo Madeira1Ricardo de Oliveira-Souza2Hospital Universitário Clementino Fraga Filho (UFRJ), Rio de Janeiro, BrazilHospital Universitário Clementino Fraga Filho (UFRJ), Rio de Janeiro, BrazilThe D’Or Institute for Research & Education (IDOR), Rio de Janeiro, BrazilDeficiency of glucose-6-phosphate dehydrogenase (G6PD) is the commonest enzyme deficiency in humans with a wide range of possible clinical manifestations depending on the specific genetic variant in each case. Here we present the case of an 86-year-old male of African descent who acutely developed symptoms of G6PD deficiency immediately after he received methylene blue for treating methemoglobinemia. The contrast between a low SO2 on pulse oximetry and a normal arterial gas sampling raised the possibility of methemoglobinemia. The patient was treated with packed red blood cells and folic acid, and a rapid clinical improvement followed by normalization of the red blood cell count ensued. In view of the patient’s advanced age, the lack of a history of similar episodes in the past, and the normal laboratory results during the hemolytic crisis, this case remained a diagnostic challenge for over three months, when a follow-up measure of G6DP activity eventually confirmed the diagnosis. A latent deficiency of G6PD may become clinically manifest under the appropriate triggering conditions even in elderly patients and in the absence of past or current clinical and laboratory evidence of G6PD deficiency.http://dx.doi.org/10.1155/2018/8198565 |
| spellingShingle | Marcos Benchimol Laura Bernardo Madeira Ricardo de Oliveira-Souza Late-Life Presentation of Unsuspected G6PD Deficiency Case Reports in Critical Care |
| title | Late-Life Presentation of Unsuspected G6PD Deficiency |
| title_full | Late-Life Presentation of Unsuspected G6PD Deficiency |
| title_fullStr | Late-Life Presentation of Unsuspected G6PD Deficiency |
| title_full_unstemmed | Late-Life Presentation of Unsuspected G6PD Deficiency |
| title_short | Late-Life Presentation of Unsuspected G6PD Deficiency |
| title_sort | late life presentation of unsuspected g6pd deficiency |
| url | http://dx.doi.org/10.1155/2018/8198565 |
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