RESUMEN
Hepatitis A virus (HAV) infection typically presents as a self-limiting illness but it can cause debilitating symptoms and rarely fulminant hepatitis (acute liver failure), which is often fatal. WHO estimates that in 2016, 7134 persons died from hepatitis A worldwide (accounting for 0.5% of the mortality due to viral hepatitis). Fulminant hepatic failure is observed in less than 1% of cases of acute viral hepatitis A. Haemophagocytic lymphohistiocytosis (HLH) is a clinical syndrome of excessive inflammation and tissue destruction owing to abnormal immune activation. Acquired HLH due to viral infections (also known as virus-associated haemophagocytic syndrome) is most commonly associated with Epstein-Barr virus and cytomegalovirus (CMV). HAV-associated HLH has been rarely reported. Haemolysis of mild to moderate degree is not unheard of in cases of hepatitis A, which is often immune-mediated. Here, we present the case of a man in his 30s, with G6PD deficiency unmasked by acute viral hepatitis A, which later on progressed to hyperacute liver failure, HLH and renal failure.
Asunto(s)
Anemia Hemolítica , Deficiencia de Glucosafosfato Deshidrogenasa , Hepatitis A , Linfohistiocitosis Hemofagocítica , Humanos , Linfohistiocitosis Hemofagocítica/diagnóstico , Linfohistiocitosis Hemofagocítica/etiología , Linfohistiocitosis Hemofagocítica/complicaciones , Masculino , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Hepatitis A/complicaciones , Adulto , Anemia Hemolítica/etiología , Fallo Hepático Agudo/etiología , Fallo Hepático Agudo/virologíaRESUMEN
Extreme levels of bilirubin in newborn is a major cause of lifelong neurodevelopmental impairment, which places a financial burden on healthcare resources and caregivers. To determine the incidence, aetiology and short-term outcomes of extreme hyperbilirubinaemia in term infants born in a resource-limited setting. This is a retrospective observational study looking at term neonates with a birth weight ≥2500 g, born in the Western health subdistrict of Cape Town, South Africa, between 1 January 2019 and 31 December 2020, who were exposed to a serum bilirubin level of ≥430 µmol/L in the first week of life and received care in the public health system. Extreme hyperbilirubinaemia occurred in 59 term infants. The incidence was 74 cases per 100 000 (<0.01%) live births equating to 1 case in every 1345 live births. The cause of hyperbilirubinaemia was identified in 51 of the cases (86%), the most common being ABO incompatibility (31/51, 61%), followed by glucose-6-phosphate dehydrogenase deficiency (11/51, 22%). Twelve infants (20 %) underwent an exchange transfusion. Six infants were encephalopathic. Forty-seven infants (80%) were readmitted after initial post-natal discharge, with a mean age of readmission of 113 h old (SD 31 h). The incidence of extreme hyperbilirubinaemia in the Western health subdistrict of Cape Town is higher than in high-income settings. Further work should focus on training of healthcare workers and education of caregivers, for the early detection of significant hyperbilirubinaemia to prevent neurological complications caused by bilirubin toxicity.
Asunto(s)
Bilirrubina , Humanos , Recién Nacido , Sudáfrica/epidemiología , Estudios Retrospectivos , Incidencia , Femenino , Masculino , Bilirrubina/sangre , Hiperbilirrubinemia Neonatal/epidemiología , Hiperbilirrubinemia Neonatal/etiología , Hiperbilirrubinemia Neonatal/terapia , Deficiencia de Glucosafosfato Deshidrogenasa/epidemiología , Deficiencia de Glucosafosfato Deshidrogenasa/complicacionesRESUMEN
A 3-year-old Tanzanian female presented with severe hemolytic anemia of unknown etiology, necessitating multiple red blood cell transfusions. The patient was found to have glucose-6-phosphate dehydrogenase (G6PD) deficiency A- and a heterozygous Piezo-type mechanosensitive ion channel component 1 (PIEZO1) mutation (2744A>G, N915S). This case identifies a novel PIEZO1 mutation implicated in erythrocyte channelopathies occurring in conjunction with an X-linked enzymopathy in a female patient. This underscores the importance of keeping X-linked disorders in the differential diagnosis of hemolytic anemia in females, as well as presents the possibility for novel coexisting mutations to augment the phenotype.
RésuméUne Tanzanienne de 3 ans a présenté une anémie hémolytique sévère d'étiologie inconnue, nécessitant de multiples transfusions de globules rouges. Le patient présentait un déficit en glucose-6-phosphate déshydrogénase (G6PD) A- et un mécanosensible hétérozygote de type piézo.mutation du composant 1 du canal ionique (PIEZO1) (2744A>G, N915S). Ce cas identifie une nouvelle mutation PIEZO1 impliquée dans les érythrocytes canalopathies survenant en conjonction avec une enzymopathie liée à l'X chez une patiente. Cela souligne l'importance de garder troubles liés à l'X dans le diagnostic différentiel de l'anémie hémolytique chez les femmes, et présente la possibilité de nouvelles mutations coexistantes pour augmenter le phénotype.
Asunto(s)
Anemia Hemolítica , Heterocigoto , Canales Iónicos , Mutación , Humanos , Femenino , Preescolar , Anemia Hemolítica/genética , Canales Iónicos/genética , Deficiencia de Glucosafosfato Deshidrogenasa/genética , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Deficiencia de Glucosafosfato Deshidrogenasa/diagnóstico , Glucosafosfato Deshidrogenasa/genética , Tanzanía , FenotipoRESUMEN
We report the case of a man in his 50s who developed acute respiratory distress syndrome and right heart failure, necessitating intubation and initiation of inhaled nitric oxide (iNO) to decrease right ventricular afterload and improve the right heart function. The course was complicated by acute anaemia, with a diagnostic workup revealing methaemoglobinaemia and evidence of oxidative haemolysis indicated by blister and bite cells on peripheral blood film. The patient received conservative management, including successive red blood cell transfusion and gradual iNO weaning due to suspected glucose-6-phosphate dehydrogenase (G6PD) deficiency. Discontinuation of iNO led to the resolution of both oxidative haemolysis and methaemoglobinaemia. Subsequent enzymatic assay, conducted 4 months later, confirmed G6PD deficiency. This case highlights a rare instance of concurrent methaemoglobinaemia and oxidative haemolytic anaemia following iNO in a patient with underlying G6PD deficiency.
Asunto(s)
Deficiencia de Glucosafosfato Deshidrogenasa , Hemólisis , Metahemoglobinemia , Óxido Nítrico , Humanos , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Masculino , Metahemoglobinemia/inducido químicamente , Metahemoglobinemia/diagnóstico , Óxido Nítrico/administración & dosificación , Hemólisis/efectos de los fármacos , Administración por Inhalación , Persona de Mediana Edad , Síndrome de Dificultad Respiratoria , Insuficiencia Cardíaca/complicaciones , Insuficiencia Cardíaca/tratamiento farmacológicoAsunto(s)
Complicaciones de la Diabetes , Deficiencia de Glucosafosfato Deshidrogenasa , Humanos , Deficiencia de Glucosafosfato Deshidrogenasa/genética , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Complicaciones de la Diabetes/genética , Glucosafosfato Deshidrogenasa/genética , Glucosafosfato Deshidrogenasa/metabolismoRESUMEN
This is the first reported case of a pediatric patient with tuberculous pleurisy and glucose-6-phosphate dehydrogenase deficiency treated with contezolid concomitantly with other antituberculous drugs. The patient responded well to treatment, and no adverse events were observed. These findings suggest that contezolid may be a potential therapeutic option for tuberculous pleurisy in children and adolescents with glucose-6-phosphate dehydrogenase deficiency.
Asunto(s)
Antituberculosos , Deficiencia de Glucosafosfato Deshidrogenasa , Tuberculosis Pleural , Humanos , Tuberculosis Pleural/tratamiento farmacológico , Tuberculosis Pleural/diagnóstico , Antituberculosos/uso terapéutico , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Deficiencia de Glucosafosfato Deshidrogenasa/tratamiento farmacológico , Masculino , Niño , Resultado del Tratamiento , Adolescente , FemeninoAsunto(s)
Antimaláricos , Deficiencia de Glucosafosfato Deshidrogenasa , Hemólisis , Primaquina , Humanos , Primaquina/efectos adversos , Primaquina/uso terapéutico , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Hemólisis/efectos de los fármacos , Colombia , Antimaláricos/efectos adversos , Antimaláricos/uso terapéutico , Masculino , Adulto , Malaria Vivax/tratamiento farmacológicoRESUMEN
Background: Exchange transfusion (ET) is an effective treatment for acute bilirubin encephalopathy and extreme neonatal hyperbilirubinemia (ENH). It can reduce mortality and morbidity. This study aimed to investigate the trends and risk factors of ENH requiring ET in hospitalized neonates in Iran. Methods: A retrospective analysis of medical records of neonates who underwent ET due to ENH was conducted from 2011 to 2021, in Shiraz, Iran. Clinical records were used to gather demographic and laboratory data. The quantitative data were expressed as mean±SD, and qualitative data was presented as frequency and percentage. P<0.05 was considered statistically significant. Results: During the study, 377 ETs were performed for 329 patients. The annual rate of ET decreased by 71.2% during the study period. The most common risk factor of ENH was glucose-6-phosphate dehydrogenase (G6PD) deficiency (35%), followed by prematurity (13.06%), ABO hemolytic disease (7.6%), sepsis (6.4%), Rh hemolytic disease (6.08%), and minor blood group incompatibility (3.34%). In 28.52% of the cases, the cause of ENH was not identified. 17 (5.1%) neonates had acute bilirubin encephalopathy, of whom 6 (35.29%) had G6PD deficiency, 6 (35.29%) had ABO incompatibility, and 2 (11.76%) had Rh incompatibility. Conclusion: Although the rate of ET occurrence has decreased, it seems necessary to consider different risk factors and appropriate guidelines for early identification and management of neonates at risk of ENH should be developed. The findings of the study highlighted the important risk factors of ENH in southern Iran, allowing for the development of appropriate prevention strategies.
Asunto(s)
Recambio Total de Sangre , Deficiencia de Glucosafosfato Deshidrogenasa , Hiperbilirrubinemia Neonatal , Humanos , Irán/epidemiología , Hiperbilirrubinemia Neonatal/terapia , Hiperbilirrubinemia Neonatal/epidemiología , Recién Nacido , Recambio Total de Sangre/estadística & datos numéricos , Recambio Total de Sangre/métodos , Femenino , Factores de Riesgo , Masculino , Estudios Retrospectivos , Deficiencia de Glucosafosfato Deshidrogenasa/epidemiología , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Deficiencia de Glucosafosfato Deshidrogenasa/terapia , Kernicterus/epidemiología , Kernicterus/etiología , Incompatibilidad de Grupos Sanguíneos/epidemiología , Incompatibilidad de Grupos Sanguíneos/complicacionesRESUMEN
BACKGROUND: To interrupt residual malaria transmission and achieve successful elimination of Plasmodium falciparum in low-transmission settings, the World Health Organization (WHO) recommends the administration of a single dose of 0.25 mg/kg (or 15 mg/kg for adults) primaquine (PQ) combined with artemisinin-based combination therapy (ACT), without glucose-6-phosphate dehydrogenase (G6PD) testing. However, due to the risk of haemolysis in patients with G6PD deficiency (G6PDd), PQ use is uncommon. Thus, this study aimed to assess the safety of a single low dose of PQ administered to patients with G6PD deficiency. METHODS: An observational cohort study was conducted with patients treated for uncomplicated P. falciparum malaria with either single-dose PQ (0.25 mg/kg) (SLD PQ) + ACT or ACT alone. Microscopy-confirmed uncomplicated P. falciparum malaria patients visiting public health facilities in Arjo Didessa, Southwest Ethiopia, were enrolled in the study from September 2019 to November 2022. Patients with uncomplicated P. falciparum malaria were followed up for 28 days through clinical and laboratory diagnosis, such as measurements of G6PD levels and haemoglobin (Hb) concentrations. G6PD levels were measured by a quantiative CareSTART™ POCT S1 biosensor machine. Patient interviews were also conducted, and the type and frequency of clinical complaints were recorded. Hb data were taken on days (D) 7, 14, 21, and 28 following treatment with SLD-PQ + ACT or ACT alone. RESULTS: A total of 249 patients with uncomplicated P. falciparum malaria were enrolled in this study. Of these, 83 (33.3%) patients received ACT alone, and 166 (66.7%) received ACT combined with SLD-PQ treatment. The median age of the patients was 20 (IQR 28-15) years. G6PD deficiency was found in 17 (6.8%) patients, 14 males and 3 females. There were 6 (7.2%) and 11 (6.6%) phenotypic G6PD-deficient patients in the ACT alone and ACT + SLD-PQ arms, respectively. The mean Hb levels in patients treated with ACT + SLD-PQ were reduced by an average of 0.45 g/dl (95% CI = 0.39 to 0.52) in the posttreatment phase (D7) compared to a reduction of 0.30 g/dl (95% CI = 0.14 to - 0.47) in patients treated with ACT alone (P = 0.157). A greater mean Hb reduction was observed on day 7 in the G6PDd ACT + SLD-PQ group (- 0.60 g/dL) than in the G6PDd ACT alone group (- 0.48 g/dL); however, there was no statistically significant difference (P = 0.465). Overall, D14 losses were 0.10 g/dl (95% CI = - 0.00 to 0.20) and 0.05 g/dl (95% CI = - 0.123 to 0.22) in patients with and without SLD-PQ, respectively (P = 0.412). CONCLUSIONS: This study's findings indicate that using SLD-PQ in combination with ACT is safe for uncomplicated P. falciparum malaria regardless of the patient's G6PD status in Ethiopian settings. Caution should be taken in extrapolating this finding in other settings with diverse G6DP phenotypes.
Asunto(s)
Antimaláricos , Artemisininas , Deficiencia de Glucosafosfato Deshidrogenasa , Hemoglobinas , Malaria Falciparum , Primaquina , Malaria Falciparum/tratamiento farmacológico , Humanos , Etiopía , Masculino , Primaquina/administración & dosificación , Primaquina/uso terapéutico , Primaquina/efectos adversos , Adulto , Antimaláricos/administración & dosificación , Antimaláricos/uso terapéutico , Femenino , Estudios Longitudinales , Hemoglobinas/análisis , Adolescente , Adulto Joven , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Persona de Mediana Edad , Niño , Artemisininas/administración & dosificación , Artemisininas/uso terapéutico , Estudios de Cohortes , Preescolar , Plasmodium falciparum/efectos de los fármacosRESUMEN
According to the World Health Organization (WHO), leishmaniasis is a zoonotic/anthroponotic parasitic disease endemic in 99 countries. It is estimated that approximately 12 million people are infected with Leishmania spp. and 350 million people live at risk. Every year, two million new cases are added to these figures. One and a half million cases of zoonotic/anthroponotic cutaneous leishmaniasis and 500 000 cases of visceral leishmaniasis are reported annually. One person is estimated to to be infected with cutaneous leishmaniasis in every 20 seconds and visceral leishmaniasis causes 60 000 deaths. In this report, two pediatric cases diagnosed with visceral leishmaniasis were presented. In the study, bone marrow aspirations were performed to determine the etiology of the disease in an eight-month-old male patient with fever and hepatosplenomegaly who had been followed up in Manisa Celal Bayar University, Department of Pediatrics, Division of Pediatric Hematology with the diagnosis of severe glucose-6-phosphate dehydrogenase (G-6PD) deficiency since the neonatal period and in a nine-month-old female patient who had had a high fever and bicytopenia for two weeks. Bone marrow aspirations were cultured in NNN medium and their smears were stained and examined with Giemsa. rk-39 and Leishmania IFAT tests were performed by using patients' sera. Quantitative reverse transcriptase polymerase chain reaction (RT-qPCR) analysis was also performed for Leishmania spp. Leishmania spp. amastigotes were observed in Giemsa-stained smear preparations, Leishmania spp. promastigotes were grown in NNN medium, rk39 rapid diagnostic kit was weakly positive, Leishmania IFAT was positive at a titer of 1/1024 and Leishmania tropica was identified as the causative agent by RT-qPCR analysis for both cases. These two cases suggested that fatal cases of visceral leishmaniasis may increase with the spread of visceralized isolates of L.tropica, the most common causative agent of cutaneous leishmaniasis in Türkiye, and this issue may create a significant public health problem.
Asunto(s)
Leishmania tropica , Leishmaniasis Visceral , Humanos , Masculino , Leishmaniasis Visceral/diagnóstico , Leishmaniasis Visceral/parasitología , Leishmania tropica/aislamiento & purificación , Leishmania tropica/genética , Femenino , Lactante , Médula Ósea/parasitología , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , AnimalesRESUMEN
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder that predisposes individuals to hemolysis due to an inborn error of metabolism. We performed a systematic literature review to evaluate G6PD deficiency as a possible etiology of nonimmune hydrops fetalis (NIHF) and severe fetal anemia. METHODS: PubMed, OVID Medline, Scopus, and clinicaltrials.gov were queried from inception until 31 April 2023 for all published cases of NIHF and severe fetal anemia caused by G6PD deficiency. Keywords included "fetal edema," "hydrops fetalis," "glucose 6 phosphate dehydrogenase deficiency," and "fetal anemia." Cases with workup presuming G6PD deficiency as an etiology for NIHF and severe fetal anemia were included. PRISMA guidelines were followed. RESULTS: Five cases of G6PD-related NIHF and one case of severe fetal anemia were identified. Four fetuses (4/6, 66.7%) were male and two fetuses (2/6, 33.3%) were female. Mean gestational age at diagnosis of NIHF/anemia and delivery was 32.2 ± 4.9 and 35.7 ± 2.4 weeks, respectively. Four cases (66.7%) required a cordocentesis for fetal transfusion, and two cases (33.3%) received blood transfusions immediately following delivery. Among the four multigravida cases, two (50%) noted previous pregnancies complicated by neonatal anemia. When reported, the maternal cases included two G6PD deficiency carrier patients and two G6PD-deficient patients. Exposures to substances known to cause G6PD deficiency-related hemolysis occurred in 3/6 (50%) cases. CONCLUSION: Six cases of NIHF/severe fetal anemia were associated with G6PD deficiency. While G6PD deficiency is an X-linked recessive condition, female fetuses can be affected. Fetal G6PD deficiency testing can be considered if parental history indicates, particularly if the standard workup for NIHF is negative.
Asunto(s)
Anemia , Deficiencia de Glucosafosfato Deshidrogenasa , Hidropesía Fetal , Humanos , Hidropesía Fetal/etiología , Hidropesía Fetal/diagnóstico , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Deficiencia de Glucosafosfato Deshidrogenasa/genética , Femenino , Embarazo , Masculino , Enfermedades Fetales/genéticaRESUMEN
Diabetes complications occur at higher rates in individuals of African ancestry. Glucose-6-phosphate dehydrogenase deficiency (G6PDdef), common in some African populations, confers malaria resistance, and reduces hemoglobin A1c (HbA1c) levels by shortening erythrocyte lifespan. In a combined-ancestry genome-wide association study of diabetic retinopathy, we identified nine loci including a G6PDdef causal variant, rs1050828 -T (Val98Met), which was also associated with increased risk of other diabetes complications. The effect of rs1050828 -T on retinopathy was fully mediated by glucose levels. In the years preceding diabetes diagnosis and insulin prescription, glucose levels were significantly higher and HbA1c significantly lower in those with versus without G6PDdef. In the Action to Control Cardiovascular Risk in Diabetes (ACCORD) trial, participants with G6PDdef had significantly higher hazards of incident retinopathy and neuropathy. At the same HbA1c levels, G6PDdef participants in both ACCORD and the Million Veteran Program had significantly increased risk of retinopathy. We estimate that 12% and 9% of diabetic retinopathy and neuropathy cases, respectively, in participants of African ancestry are due to this exposure. Across continentally defined ancestral populations, the differences in frequency of rs1050828 -T and other G6PDdef alleles contribute to disparities in diabetes complications. Diabetes management guided by glucose or potentially genotype-adjusted HbA1c levels could lead to more timely diagnoses and appropriate intensification of therapy, decreasing the risk of diabetes complications in patients with G6PDdef alleles.
Asunto(s)
Complicaciones de la Diabetes , Retinopatía Diabética , Estudio de Asociación del Genoma Completo , Deficiencia de Glucosafosfato Deshidrogenasa , Glucosafosfato Deshidrogenasa , Humanos , Glucosafosfato Deshidrogenasa/genética , Deficiencia de Glucosafosfato Deshidrogenasa/genética , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Deficiencia de Glucosafosfato Deshidrogenasa/epidemiología , Retinopatía Diabética/genética , Retinopatía Diabética/epidemiología , Complicaciones de la Diabetes/genética , Complicaciones de la Diabetes/epidemiología , Hemoglobina Glucada/metabolismo , Masculino , Femenino , Población Negra/genética , Polimorfismo de Nucleótido Simple , Persona de Mediana Edad , Glucemia/metabolismoRESUMEN
BACKGROUND: Klinefelter syndrome is a common sex chromosome abnormality in males, characterized by an extra X chromosome compared to normal males. Glucose-6-phosphate dehydrogenase deficiency (G6PD) is an X-linked incomplete dominant defect disorder. In this study, we reported the unexpected detection of Klinefelter syndrome in a patient with G6PD. METHODS: G6PD enzyme activity was measured by immunoenzyme assay, and genetic analysis was performed using a fluorescent PCR melting curve method (PCR-melting curve). Sex chromosome number abnormalities were detected by multiplex ligation-dependent probe amplification (MLPA). The patient also underwent peripheral blood chromosome karyotype analysis. RESULTS: The patient's G6PD and 6PGD enzyme activities were 21.34 U/L and 22.85 U/L, respectively, and their ratio was below the reference range (0.93). The PCR-melting curve displayed a c.1388 heterozygous mutation in this boy, and the Sanger sequencing provided the same results. MLPA results suggested the presence of approxi-mately two copies of the X-chromosome in the boy. Finally, chromosome karyotype analysis confirmed that the boy had Klinefelter syndrome with a karyotype of 47, XXY. CONCLUSIONS: Klinefelter syndrome was accidentally detected during G6PD genetic analysis in a male. X-chromosomes can interfere with the results of G6PD genetic analysis and should be noted.
Asunto(s)
Deficiencia de Glucosafosfato Deshidrogenasa , Glucosafosfato Deshidrogenasa , Síndrome de Klinefelter , Humanos , Síndrome de Klinefelter/genética , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/complicaciones , Masculino , Deficiencia de Glucosafosfato Deshidrogenasa/genética , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Deficiencia de Glucosafosfato Deshidrogenasa/diagnóstico , Glucosafosfato Deshidrogenasa/genética , Cariotipificación , Mutación , Pruebas Genéticas/métodos , Cromosomas Humanos X/genéticaRESUMEN
BACKGROUND: Plasmodium vivax relapses due to dormant liver hypnozoites can be prevented with primaquine. However, the dose must be adjusted in individuals with glucose-6-phosphate-dehydrogenase (G6PD) deficiency. In French Guiana, assessment of G6PD activity is typically delayed until day (D)14 to avoid the risk if misclassification. This study assessed the kinetics of G6PD activity throughout P. vivax infection to inform the timing of treatment. METHODS: For this retrospective monocentric study, data on G6PD activity between D1 and D28 after treatment initiation with chloroquine or artemisinin-based combination therapy were collected for patients followed at Cayenne Hospital, French Guiana, between January 2018 and December 2020. Patients were divided into three groups based on the number of available G6PD activity assessments: (i) at least two measurements during the P. vivax malaria infection; (ii) two measurements: one during the current infection and one previously; (iii) only one measurement during the malaria infection. RESULTS: In total, 210 patients were included (80, 20 and 110 in groups 1, 2 and 3, respectively). Data from group 1 showed that G6PD activity remained stable in each patient over time (D1, D3, D7, D14, D21, D28). None of the patients with normal G6PD activity during the initial phase (D1-D3) of the malaria episode (n = 44) was categorized as G6PD-deficient at D14. Patients with G6PD activity < 80% at D1 or D3 showed normal activity at D14. Sex and reticulocyte count were statistically associated with G6PD activity variation. In the whole sample (n = 210), no patient had severe G6PD deficiency (< 10%) and only three between 10 and 30%, giving a G6PD deficiency prevalence of 1.4%. Among the 100 patients from group 1 and 2, 30 patients (26.5%) were lost to follow-up before primaquine initiation. CONCLUSIONS: In patients treated for P. vivax infection, G6PD activity did not vary over time. Therefore, G6PD activity on D1 instead of D14 could be used for primaquine dose-adjustment. This could allow earlier radical treatment with primaquine, that could have a public health impact by decreasing early recurrences and patients lost to follow-up before primaquine initiation. This hypothesis needs to be confirmed in larger prospective studies.
Asunto(s)
Antimaláricos , Glucosafosfato Deshidrogenasa , Malaria Vivax , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Antimaláricos/uso terapéutico , Artemisininas/uso terapéutico , Cloroquina/uso terapéutico , Guyana Francesa/epidemiología , Glucosafosfato Deshidrogenasa/metabolismo , Deficiencia de Glucosafosfato Deshidrogenasa/epidemiología , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Cinética , Malaria Vivax/tratamiento farmacológico , Plasmodium vivax/efectos de los fármacos , Plasmodium vivax/fisiología , Primaquina/uso terapéutico , Estudios Retrospectivos , Anciano de 80 o más AñosRESUMEN
Objectives: To determine the effect of glucose-6-phosphate-dehydrogenase (G6PD) deficiency on patients' complications and prognosis following allogeneic stem cell hematopoietic transplantation (allo-HSCT) . Methods: 7 patients with G6PD deficiency (study group) who underwent allo-HSCT at Peking University People's Hospital from March 2015 to January 2021 were selected as the study group, and thirty-five patients who underwent allo-HSCT during the same period but did not have G6PD deficiency were randomly selected as the control group in a 1â¶5 ratio. Gender, age, underlying diseases, and donors were balanced between the two groups. Collect clinical data from two patient groups and perform a retrospective nested case-control study. Results: The study group consisted of six male patients and one female patient, with a median age of 37 (range, 2-45) years old. The underlying hematologic diseases included acute myeloid leukemia (n=3), acute lymphocytic leukemia (n=2), and severe aplastic anemia (n=2). All 7 G6PD deficiency patients achieved engraftment of neutrophils within 28 days of allo-HSCT, while the engraftment rate of neutrophils was 94.5% in the control group. The median days of platelet engraftment were 21 (6-64) d and 14 (7-70) d (P=0.113). The incidence rates of secondary poor graft function in the study group and control group were 42.9% (3/7) and 8.6% (3/35), respectively (P=0.036). The CMV infection rates were 71.4% (5/7) and 31.4% (11/35), respectively (P=0.049). The incidence rates of hemorrhagic cystitis were 57.1% (4/7) and 8.6% (3/35), respectively (P=0.005), while the bacterial infection rates were 100% (7/7) and 77.1% (27/35), respectively (P=0.070). The infection rates of EBV were 14.3% (1/7) and 14.3% (5/35), respectively (P=1.000), while the incidence of fungal infection was 14.3% (1/7) and 25.7% (9/35), respectively (P=0.497). The rates of post-transplant lymphoproliferative disease (PTLD) were 0% and 5.7%, respectively (P=0.387) . Conclusions: The findings of this study indicate that blood disease patients with G6PD deficiency can tolerate conventional allo-HSCT pretreatment regimens, and granulocytes and platelets can be implanted successfully. However, after transplantation, patients should exercise caution to avoid viral infection, complications of hemorrhagic cystitis, and secondary poor graft function.
Asunto(s)
Deficiencia de Glucosafosfato Deshidrogenasa , Trasplante de Células Madre Hematopoyéticas , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Estudios de Casos y Controles , Infecciones por Citomegalovirus , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Trasplante de Células Madre Hematopoyéticas/efectos adversosRESUMEN
BACKGROUND AND OBJECTIVE: Glucose-6-phosphate dehydrogenase deficiency (G6PDD) being highly prevalent in the Middle East, the primary objective was to estimate the incidence of neonatal jaundice among G6PD-deficient neonates and to explore its association with various risk factors. METHODS: This retrospective cohort study includes 7 years data of neonates diagnosed with G6PDD between 1st January 2015, and 30 September 2022, from Al Wakra Hospital, HMC Qatar. RESULTS: Among the 40,305 total births, 1013 had G6PDD with an incidence of 2.51%. Of all the G6PDD babies, 24.6% (249/1013) received phototherapy and three babies required exchange transfusion. Statistically significant associations were noted between the need for phototherapy and gestational age, gestational age groups, birth weight, and birth weight groups, but logistic regression analysis showed significant association for phototherapy only with the gestational age group. CONCLUSION: Universal screening and proper follow-up is essential for G6PDD as it plays crucial role in neonatal jaundice.
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Edad Gestacional , Deficiencia de Glucosafosfato Deshidrogenasa , Hiperbilirrubinemia Neonatal , Fototerapia , Femenino , Humanos , Recién Nacido , Masculino , Peso al Nacer , Recambio Total de Sangre , Deficiencia de Glucosafosfato Deshidrogenasa/epidemiología , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Hiperbilirrubinemia Neonatal/epidemiología , Hiperbilirrubinemia Neonatal/terapia , Incidencia , Ictericia Neonatal/epidemiología , Ictericia Neonatal/terapia , Modelos Logísticos , Qatar/epidemiología , Estudios Retrospectivos , Factores de RiesgoRESUMEN
BACKGROUND: Herbal products and traditional remedies are commonly used by individuals worldwide for the management of common ailments, even though most are not without risks. Acalypha indica is a popular medicinal plant consumed in some Asian countries. CASE PRESENTATION: This case report presents a 40-year-old previously unevaluated Sri Lankan female and her 8-year-old son who presented with severe glucose-6-phosphate dehydrogenase (G6PD) deficiency related acute intravascular oxidative haemolysis and methaemoglobinaemia precipitated by Acalypha indica consumption, successfully managed with supportive care and blood transfusion. CONCLUSIONS: This case highlights the potential hemolytic and methaemoglobinaemic effects of ingesting oxidant herbal products and the importance of considering such exposures in patients presenting with hemolysis and multiorgan involvement, particularly in communities where herbal product intake is popular. Healthcare providers should be aware of the risks associated with traditional remedies and maintain a high index of suspicion to ensure prompt recognition and appropriate management.
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Acalypha , Deficiencia de Glucosafosfato Deshidrogenasa , Metahemoglobinemia , Plantas Medicinales , Adulto , Niño , Femenino , Humanos , Acalypha/efectos adversos , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Hemólisis , Metahemoglobinemia/inducido químicamente , Estrés Oxidativo , MasculinoRESUMEN
ABSTRACT: Anemia coexisting with Gaucher disease (GD) is often associated with non-hemolytic processes. Few cases of GD with autoimmune hemolytic anemia have been reported. However, literature on GD with concomitant nonimmune hemolytic anemia is scarce. A 1-year 6-month-old male child presented in 2018 with complaints of palpable mass in left upper abdomen, fever, cough, and vomiting. On examination, he had pallor, hepatosplenomegaly of 2 cm and 8 cm below costal margin, respectively. A clinical diagnosis of hemolytic anemia was suspected. Complete blood count revealed Hb---6.7 g/dL, TLC---8.9 × 10 3 /µL, platelet count---180 × 10 3 /µL. Peripheral smear showed predominantly microcytic hypochromic anemia with moderate degree of anisocytosis, many nucleated red blood cells, few schistocytes, polychromatophils and corrected reticulocyte count 7.89%. S. Bilirubin was 1.1 mg/dL. Hb high-performance liquid chromatography (HPLC) of the child and his parents was within normal limit. Hematological work up revealed negative results for direct Coombs' test, osmotic fragility test, and sickling test. Test for Glucose-6-phosphate dehydrogenase deficiency was positive (39 units/trillion RBC, normal 146--376). He was transfused intermittently and given steroids to manage his anemia. He was on regular follow up during which his blood counts revealed persistent anemia and thrombocytopenia. In view of this, bone marrow was performed to exclude myelofibrosis. Aspirate smears were cellular and showed normoblastic erythroid hyperplasia. Numerous large histiocytes with basophilic fibrillary cytoplasm exhibiting "crumpled tissue paper" appearance were seen. Similar findings were seen on bone marrow trephine biopsy. Genetic testing revealed pathogenic variations in the GBA gene. Beta glucosidase enzyme levels were low while chitotriosidase was raised (1109.19 nmol/hr/mL). A final diagnosis of G6PD with GD was made. The present study shows rare association of GD with Glucose-6-phosphate dehydrogenase deficiency.