Late-Life Presentation of Unsuspected G6PD Deficiency
| Autor: | Laura Bernardo Madeira, Ricardo de Oliveira-Souza, Marcos Benchimol |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Pediatrics
medicine.medical_specialty medicine.diagnostic_test business.industry Normal laboratory lcsh:Medical emergencies. Critical care. Intensive care. First aid Case Report lcsh:RC86-88.9 Critical Care and Intensive Care Medicine Methemoglobinemia medicine.disease 03 medical and health sciences Pulse oximetry 0302 clinical medicine Red Blood Cell Count Folic acid hemic and lymphatic diseases Hemolytic crisis Medicine 030212 general & internal medicine Presentation (obstetrics) business Packed red blood cells 030217 neurology & neurosurgery |
| Zdroj: | Case Reports in Critical Care Case Reports in Critical Care, Vol 2018 (2018) |
| ISSN: | 2090-6439 2090-6420 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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