Déficit en glucose-6-phosphate-déshydrogénase : Questions médicales fréquentes
Nom anglais: Glucosephosphate Dehydrogenase Deficiency
Descriptor UI:D005955
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"description": "Comment diagnostiquer le déficit en G6PD ?\nQuels sont les signes cliniques du déficit en G6PD ?\nQuel rôle joue l'historique médical dans le diagnostic ?\nLes tests génétiques sont-ils nécessaires ?\nQuand faut-il consulter un médecin ?",
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"description": "Comment prévenir les crises hémolytiques ?\nLes vaccinations sont-elles recommandées ?\nFaut-il des tests de dépistage pour les nouveau-nés ?\nComment informer les proches sur la maladie ?\nLes femmes enceintes doivent-elles être testées ?",
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"description": "Quel est le traitement principal du déficit en G6PD ?\nDes transfusions sanguines sont-elles nécessaires ?\nLes médicaments peuvent-ils aider ?\nComment gérer une crise hémolytique ?\nLe régime alimentaire a-t-il un impact ?",
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"description": "Quelles sont les complications possibles du déficit en G6PD ?\nLe déficit en G6PD peut-il affecter la grossesse ?\nY a-t-il un risque accru d'infections ?\nLes complications sont-elles réversibles ?\nComment surveiller les complications ?",
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"description": "Quels sont les facteurs de risque du déficit en G6PD ?\nLes hommes sont-ils plus à risque ?\nL'origine ethnique influence-t-elle le risque ?\nLes nouveau-nés sont-ils à risque ?\nLes médicaments peuvent-ils augmenter le risque ?",
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"@type": "Question",
"name": "Comment diagnostiquer le déficit en G6PD ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un test sanguin mesure l'activité de la G6PD pour confirmer le déficit."
}
},
{
"@type": "Question",
"name": "Quels sont les signes cliniques du déficit en G6PD ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les signes incluent fatigue, jaunisse, et urines foncées après exposition à des déclencheurs."
}
},
{
"@type": "Question",
"name": "Quel rôle joue l'historique médical dans le diagnostic ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'historique familial et les antécédents d'hémolyse aident à établir le diagnostic."
}
},
{
"@type": "Question",
"name": "Les tests génétiques sont-ils nécessaires ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests génétiques peuvent confirmer le déficit en G6PD, surtout en cas de doute."
}
},
{
"@type": "Question",
"name": "Quand faut-il consulter un médecin ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Consultez un médecin si vous présentez des symptômes d'hémolyse ou des antécédents familiaux."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes courants du déficit en G6PD ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent fatigue, jaunisse, et douleurs abdominales en cas de crise."
}
},
{
"@type": "Question",
"name": "Comment se manifeste une crise hémolytique ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une crise hémolytique se manifeste par une anémie, une jaunisse et des urines foncées."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent être plus prononcés chez les nourrissons et les jeunes enfants."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques aux femmes ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les femmes peuvent avoir des symptômes moins sévères en raison de la présence de deux chromosomes X."
}
},
{
"@type": "Question",
"name": "Les symptômes peuvent-ils apparaître après un médicament ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains médicaments peuvent déclencher une crise chez les personnes déficientes en G6PD."
}
},
{
"@type": "Question",
"name": "Comment prévenir les crises hémolytiques ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Évitez les médicaments et aliments connus pour déclencher des crises chez les déficients."
}
},
{
"@type": "Question",
"name": "Les vaccinations sont-elles recommandées ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les vaccinations sont recommandées pour prévenir les infections qui peuvent aggraver l'état."
}
},
{
"@type": "Question",
"name": "Faut-il des tests de dépistage pour les nouveau-nés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage néonatal peut identifier les cas de déficit en G6PD précocement."
}
},
{
"@type": "Question",
"name": "Comment informer les proches sur la maladie ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Éduquez vos proches sur les déclencheurs et les symptômes pour une meilleure gestion."
}
},
{
"@type": "Question",
"name": "Les femmes enceintes doivent-elles être testées ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage peut être utile pour prévenir les complications chez le fœtus."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal du déficit en G6PD ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement consiste principalement à éviter les déclencheurs d'hémolyse."
}
},
{
"@type": "Question",
"name": "Des transfusions sanguines sont-elles nécessaires ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des transfusions peuvent être nécessaires en cas d'anémie sévère due à une hémolyse."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils aider ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de médicaments spécifiques, mais des soins de soutien peuvent être fournis."
}
},
{
"@type": "Question",
"name": "Comment gérer une crise hémolytique ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il est crucial de consulter un médecin pour un traitement approprié lors d'une crise."
}
},
{
"@type": "Question",
"name": "Le régime alimentaire a-t-il un impact ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un régime équilibré peut aider, mais il est essentiel d'éviter certains aliments comme les fèves."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles du déficit en G6PD ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent l'anémie sévère, les infections et des problèmes rénaux."
}
},
{
"@type": "Question",
"name": "Le déficit en G6PD peut-il affecter la grossesse ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, il peut y avoir des risques pour le fœtus, notamment des anémies néonatales."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru d'infections ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les personnes déficientes en G6PD peuvent être plus vulnérables aux infections."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications, comme l'anémie, peuvent être réversibles avec un traitement approprié."
}
},
{
"@type": "Question",
"name": "Comment surveiller les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des bilans sanguins réguliers permettent de surveiller l'état et d'anticiper les complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque du déficit en G6PD ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, l'origine ethnique et certains médicaments."
}
},
{
"@type": "Question",
"name": "Les hommes sont-ils plus à risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le déficit en G6PD est plus fréquent chez les hommes en raison de son mode de transmission."
}
},
{
"@type": "Question",
"name": "L'origine ethnique influence-t-elle le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le déficit est plus courant chez les personnes d'origine méditerranéenne et africaine."
}
},
{
"@type": "Question",
"name": "Les nouveau-nés sont-ils à risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les nouveau-nés peuvent être à risque, surtout s'ils ont des antécédents familiaux."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils augmenter le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains médicaments comme les sulfamides peuvent déclencher des crises chez les déficients."
}
}
]
}
]
}
Recent studies revealed the glucose-6-phosphate dehydrogenase (G-6-PD) deficiency prevalence of 7.7-10% among Thai blood donors. Transfusion of red blood cells (RBCs) from these subjects potentially c...
RBC units from the National Blood Centre were sampled to assess G-6-PD levels using spectrophotometry. Patients with pure underproduction anaemia requiring blood transfusion were randomised to receive...
From April 2020 to March 2021, 374 RBC units were tested for G-6-PD, and that 25 were found to be G-6-PD deficient. Twelve units of G-6-PD-deficient RBCs and 14 units of normal RBCs were given to pati...
G-6-PD-deficient packed red cells were associated with mildly elevated indirect bilirubin after transfusion, but there was no observed clinical symptoms....
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...
We present a case of a man in his 60s, known with glucose-6-phosphate dehydrogenase deficiency (G6PDd) and cor pulmonale, admitted to the department of cardiology due to cardiac decompensation and ana...
To report the case of chronic osteomyelitis of a maxilla in a woman with uncontrolled diabetes mellitus (DM), glucose-6-phosphate dehydrogenase (G6PD) deficiency and mental illness, in an attempt to c...
A case of a woman with moderate G6PD deficiency (Class III) who developed bilateral and asynchronous chronic suppurative osteomyelitis (CSO) of her maxilla with extensive bone sequestra, fistulae and ...
CSO of the jaw may be a complication of the G6PD deficiency and DM and its severity depends on patient's medical status....
The World Health Organization recommends that primaquine should be given once weekly for 8-weeks to patients with Plasmodium vivax malaria and glucose-6-phosphate dehydrogenase (G6PD) deficiency, but ...
Within the context of a multicentre, randomised clinical trial of two primaquine regimens in P. vivax malaria, patients with G6PD deficiency were excluded and enrolled into a separate 12-month observa...
Between July 2014 and November 2017, 42 male and 8 female patients were enrolled in Afghanistan (6), Ethiopia (5), Indonesia (19), and Vietnam (20). G6PD deficiency was confirmed by genotyping in 31 p...
PQ8W was highly effective in preventing P. vivax recurrences. Whilst PQ8W was well tolerated in most patients across a range of different G6PD variants, significant falls in haemoglobin may occur afte...
This trial is registered at ClinicalTrials.gov (NCT01814683)....
Primaquine is an 8-aminoquinoline antimalarial. It is the only widely available treatment to prevent relapses of...
We conducted an adaptive pharmacometric study to characterise the relationship between primaquine dose and haemolysis in G6PDd. The aim was to explore shorter and safer primaquine radical cure regimen...
24 volunteers were enrolled in Part 1, and 16 in Part 2 (13 participated in both studies). In three volunteers, the ascending dose regimen was stopped because of haemolysis (n=1) and asymptomatic incr...
In patients with Southeast Asian G6PDd variants, full radical cure treatment can be given in under 3 weeks compared with the current 8-week regimen....
Medical Research Council of the United Kingdom (MR/R015252/1) and Wellcome (093956/Z/10/C, 223253/Z/21/Z)....
Thai Clinical Trial Registry: TCTR20170830002 and TCTR20220317004....
Glucose-6-phosphate dehydrogenase deficiency (G6PDd) is an X-linked disorder affecting over 400 million people worldwide. Individuals with molecular variants associated with reduced enzymatic activity...
Molecular variants associated with G6PDd were genotyped in 581 individuals from Afro-Ecuadorian, Indigenous, Mestizo, and Montubio ethnic groups. Additionally, spatial analysis was conducted to identi...
The A- c.202G > A and A- c.968T > C variants underpin the genetic basis of G6PDd in the studied population. The overall prevalence of G6PDd was 4.6% in the entire population. However, this frequency i...
The findings of this study hold significant implications for public health interventions, treatment strategies, and targeted efforts to mitigate the burden of malaria in Ecuador. The high prevalence o...
The risk of developing thyroid disorders (TDs) in subjects with inherited glucose-6-phosphate dehydrogenase (G6PD) deficiency is unknown. The aim of this study was to explore the association between a...
In this retrospective single-center case-control study, demographic and clinical data were collected from patients examined in a tertiary referral Gastroenterology Section of a teaching hospital....
In 8894 subjects examined (64.7% females), 1218 patients were diagnosed with TDs; more specifically, 767 were diagnosed with AITD and 451 were not (non-AITD). Overall, G6PD deficiency was more prevale...
The risk of AITD is increased in carriers of G6PD deficiency. A careful assessment of thyroid function is advisable in patients with inherited G6PD defects....
With the development of sequencing technology, more and more rare thalassemia types have been found. In this article, we found a novel Hb H disease combined with glucose-6-phosphate dehydrogenase (G6P...
Screening for G6PD deficiency in newborns can help prevent severe hemolysis, hyperbilirubinemia, and bilirubin encephalopathy, as recommended by the World Health Organization (WHO). It has been specul...
The levels of reticulocytes and G6PD activity were measured in blood samples collected from 1,015 newborns. G6PD mutations were identified using TaqMan...
The automated assay detected G6PD deficiency in 6.5% of the total newborn subjects compared to 5.3% and 6.1% by the FST and the standard method, respectively. The minor allele frequencies (MAFs) of G6...
We report that reticulocytosis does not have a statistically significant effect on the detection of G6PD deficiency in newborns by both qualitative and quantitative methods....