Study of a family in the province of Matera presenting with glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome

Dell'Edera, Domenico; Epifania, Annunziata Anna; Tinelli, Andrea; Leo, M. Di; Novelli, Antonio; Trani, Antonio; Barrano, Giuseppe; Bértoli, Marta; Mazzone, Eleonora; Benedetto, Michele De; Damian, Silvia; Malvasi, Antonio

doi:10.3892/mmr.2012.830

Cited by 3 publications

(2 citation statements)

References 11 publications

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“…As far as possible, baseline dried blood spots were retained for later testing for the prevalent G6PD Mediterranean variant (563C>T) by polymerase chain reaction (PCR)-restriction fragment length polymorphism. 13 …”

Section: Methodsmentioning

confidence: 99%

Chloroquine–Primaquine versus Chloroquine Alone to Treat Vivax Malaria in Afghanistan: An Open Randomized Superiority Trial

Awab

Imwong

Bancone

et al. 2017

The American Journal of Tropical Medicine and Hygiene

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Abstract.Afghanistan’s national guidelines recommend primaquine (PQ) for radical treatment of Plasmodium vivax malaria, but this is rarely implemented because of concerns over potential hemolysis in patients who have G6PD deficiency. Between August 2009 and February 2014, we conducted an open-label, randomized controlled trial of chloroquine (CQ) alone versus chloroquine plus primaquine (0.25 mg base/kg/day for 14 days) (CQ+PQ) in patients aged 6 months and older with microscopy confirmed P. vivax infection. In the CQ+PQ group, G6PD deficiency was excluded by fluorescent spot testing. The primary outcome was P. vivax recurrence assessed by survival analysis over one year follow-up. Of 593 patients enrolled, 570 attended at or after 14 days of follow-up. Plasmodium vivax recurrences occurred in 37 (13.1%) of 282 patients in the CQ+PQ arm versus 86 (29.9%) of 288 in the CQ arm (Cox proportional hazard ratio [HR] 0.37, 95% confidence interval [CI] 0.25–0.54) (intention-to-treat analysis). Protection against recurrence was greater in the first 6 months of follow-up (HR 0.082; 95% CI 0.029–0.23) than later (HR 0.65, 95% CI 0.41–1.03). Five of seven patients requiring hospital admission were considered possible cases of PQ-related hemolysis, and PQ was stopped in a further six; however, in none of these cases did hemoglobin fall by ≥ 2 g/dL or to below 7 g/dL, and genotyping did not detect any cases of Mediterranean variant G6PD deficiency. PQ 0.25 mg/kg/day for 14 days prevents relapse of P. vivax in Afghanistan. Patient visits during the first week may improve adherence. Implementation will require deployment of point-of-care phenotypic tests for G6PD deficiency.

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Section: Methodsmentioning

confidence: 99%

Chloroquine–Primaquine versus Chloroquine Alone to Treat Vivax Malaria in Afghanistan: An Open Randomized Superiority Trial

Awab

Imwong

Bancone

et al. 2017

The American Journal of Tropical Medicine and Hygiene

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“…Hemolysis, breakdown of red blood cells (RBC) leads to increase production of bilirubin .Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a recessive X-linked trait, is the most common enzyme deficiency in the world. The most devastating clinical consequence of this deficit is severe neonatal jaundice, which results in sensorineural deficit, and severe hemolytic anemia 33 . The diagnosis of G6PD deficiency is made by a quantitative spectrophotometric analysis or, more commonly, by a rapid fluorescent spot test detecting the generation of NADPH from NADP 34 .…”

Section: Differential Diagnosismentioning

confidence: 99%

Gilbert\\\\\\\'s Sendromu

Cüre¹,

Yüce²,

Cüre³

2014

Arşiv Kaynak Tarama Dergisi

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Gilbert's syndrome is a benign condition that does not progress to chronic liver disease or fibrosis. Gilbert's syndrome diagnosis should be considered in patients with chronic elevation of unconjugated bilirubin. In these patients the presence of hemolysis and other diseases of the liver should be excluded. Gilbert's syndrome is an autosomal recessive disease. The mutation of uridine diphosphate glucuronyl transferase is seen in 10-16% of the population. There is a 70-80% decrease in bilirubin glucuronidation. In cases of unexplained indirect hyperbilirubinemia with no history of drugs, smoking or alcohol use, Gilbert's syndrome should be considered. Firstly, hemolysis should be excluded. It has been reported that having increased levels of indirect bilirubin lowers the incidence of carotid plaque and coronary artery disease in patients with Gilbert's syndrome. The antioxidation and resistance to oxidative stress status of patients with Gilbert's syndrome is known to be high. However, Gilbert's syndrome is associated with breast and colon cancer. Several studies have reported that liver transplantation from a patient with Gilbert's syndrome had no harm to himself or to the recipient. An exact relationship between schizophrenia and Gilbert's syndrome has not been demonstrated. Gilbert's syndrome patients have a risk of breast and colon cancer so frequent follow up is recommended.

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