The Utility of Rifampin in Diagnosing Gilbertʼs Syndrome

Murthy, G Divakara; Byron, Daniel; Shoemaker, D.W.; Visweswaraiah, Hanumappa; Pasquale, Donald

doi:10.1111/j.1572-0241.2001.03693.x

Cited by 24 publications

(10 citation statements)

References 15 publications

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“…Thus, we used the rifampin test in addition to a history and physical examination in parents for diagnosis of GS. The rifampin test is highly sensitive and specific 8. In one study, the rise in unconjugated bilirubin more than 1.3 mg/dL 4 hours after using 600 mg rifampin was 100% sensitive and 100% specific 7.…”

Section: Discussionmentioning

confidence: 99%

“…The overnight rifampin test was considered positive for a diagnosis of GS if increases in the serum total and unconjugated bilirubin levels were more than 2.4 and 1.3 mg/dL, respectively 7. An increase in serum total bilirubin to more than 2.4 mg/dL has a 93.8% sensitivity and 93% specificity for the diagnosis of GS 8. A rise in unconjugated bilirubin more than 1.3 mg/d has a 100% sensitivity and 100% specificity for the diagnosis of GS 8.…”

Section: Methodsmentioning

confidence: 99%

“…An increase in serum total bilirubin to more than 2.4 mg/dL has a 93.8% sensitivity and 93% specificity for the diagnosis of GS 8. A rise in unconjugated bilirubin more than 1.3 mg/d has a 100% sensitivity and 100% specificity for the diagnosis of GS 8. The data on the neonates were obtained from their hospital admission charts and also from the parents in a questionnaire.…”

Section: Methodsmentioning

confidence: 99%

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Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia

Saki

Hemmati

Haghighat

2011

Annals of Saudi Medicine

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BACKGROUND AND OBJECTIVES:The cause of hyperbilirubinemia cannot be found in about 45% of cases of neonatal jaundice. Gilbert syndrome (GS) is the most common congenital disease associated with bilirubin metabolism in the liver. Since the screening value of genetic tests cannot be fully determined until accurate data on the prevalence and penetrance of the GS genotype are known, we sought to estimate whether the prevalence of GS is higher in the parents of neonates with severe unexplained indirect hyperbilirubinemia.DESIGN AND SETTING:Case-control study of parents of neonates with severe unexplained indirect hyperbilirubinemia admitted to a neonatal ward.METHODS:We used the rifampin test (checked bilirubin before and 4 hours after administration of 600 mg rifampin) for diagnosis of GS in parents of 115 neonates with severe unexplained indirect hyperbilirubinemia. We compared the prevalence of GS in these parents with that of a control group of 115 couples referred for premarital counseling.RESULTS:The 115 neonates were aged 5.2 (1.6) days (mean, standard deviation), all were breast-fed, and males constituted 56.5%. Mean total serum bilirubin (TSB) level was 20.96 (5.48) mg/dL. 14.8% were glucose 6 phosphate dehydrogenase (G6PD) deficiency was present in 14.8%, and 10.4% had A, B or O blood group (ABO) incompatibilities with their mothers. There was no difference in the prevalence of GS between parents of the group with hyperbilirubinemia (22.2%) and the control group (19.13%) (P=.42). Mean TSB in neonates with parents who had GS was more (about 3 mg/dL) than in neonates with normal parents (P=.004). Fathers had GS twice as often as the mothers among the parents of neonates with hyperbilirubinemia (P=.003), among the control group (P=.009) and among neonates (P=.014).CONCLUSION:This study showed that GS cannot cause severe indirect hyperbilirubinemia by itself, but it may have a summative effect on rising bilirubin when combined with other factors, for example, G6PD. Our results showed that in GS, males are affected about twice as much as the females.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia

Saki

Hemmati

Haghighat

2011

Annals of Saudi Medicine

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“…An increase in total serum bilirubin by 2.4 mg/dl has 93.8% sensitive and 93% specific for diagnosis of GS whereas rise of indirect bilirubin of 1.3 mg/dl at 4 hrs has 100% sensitivity and specificity. 10 In present index case, authors considered the possibility of GS in view of persistence of unconjugated hyperbilirubinemia for prolonged period which is unusual in thalassemia trait. Hence, we performed Rifampicin test which suggests increase in unconjugated bilirubin by 2.2 mg/dl, favoring diagnosis of GS.…”

Section: Discussionmentioning

confidence: 99%

Gilbert syndrome in a young boy with thalassemia trait: a rare association

Priyadarshini

Satapathy

Mahapatro

2019

Int J Contemp Pediatr

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Gilbert syndrome (GS) is a mild benign disease characterized by asymptomatic unconjugated hyperbilirubinemia in absence of liver disease or hemolysis. This is the most common disorder associated with bilirubin metabolism with autosomal recessive inheritance. It usually precipitates during episodes of dehydration, fasting or stress like intercurrent illnesses. Here, we are reporting a case of Gilbert syndrome in 12 yrs old boy with thalassemia trait who presented with history of persistent jaundice for last 10 months. He had disproportionately higher concentration of unconjugated bilirubin which cannot be attributed to either disorder alone. Authors considered the possibility of Gilbert syndrome after ruling out hemolytic anemia. Though genetic testing is considered to be gold standard for diagnosis of Gilbert syndrome but availability is an issue. Calorie restriction test and nicotinic acid provocation test has been used to confirm GS too. Rifampicin test, another simple test which has been described in literature though not widely used in diagnosis. It has high sensitivity and specificity too. Authors had performed rifampicin test in our index case to confirm the diagnosis of GS. Here, authors wish to highlight the patients with both GS and thalassemia trait has higher bilirubin concentrations and is more likely to be icteric than either defect alone.

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“…Однако у больных с хрониче-ским гепатитом в половине случаев может также отмечаться повышение билирубина [6]. Кроме того, повышение уровня билирубина при проведении те-ста с рифампицином имеет место и у здоровых до-бровольцев [13].…”

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Clinical value of functional assays in diagnostics of Gilbert’s disease

Shulyatyev¹,

Носкова²

2015

Lab. sluzh.

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20Функциональные гипербилирубинемии -груп-па наследственных (генетически обусловленных) не гемолитических гипербилирубинемий. Заболевания обусловлены нарушением процессов метаболизма билирубина и последующего его выделения с жел-чью. Одним из наиболее часто встречающихся ва-риантов функциональных гипербилирубинемий яв-ляется синдром Жильбера (СЖ). СЖ известен уже более 100 лет и имеет следующие синонимичные названия: симптом Жильбера-Лербулета, врож-денная семейная холемия, простая семейная холе-мия, врожденная гипербилирубинемия, конститу-циональная гипербилирубинемия, идиопатическая неконъюгированная гипербилирубинемия. распространенность генетического дефекта uGt 1А1 в популяции значительна, гомозиготное носительство определяется от 5 до 10% в разных регионах, а гетерозиготное носительство достигает 40-45%. Диагностика синдрома Жильбера тре-бует достаточно много времени и приводит зачастую к гипердиагностике хронических гепатитов, или нередко больные остаются недообследованными. Цель исследования -разработка алгоритма диагностики синдрома Жильбера. Материал и методы. В исследование были включены 88 человек. Из них 43 (49%) больных были с болезнью Жильбера, 25 (28%) больных с хроническим гепатитом и 20 (23%) пациентов контрольной группы. Всем пациентам были проведены пробы с гипокалорийной диетой и фенобарбиталом, генетическое обследование с помощью полимеразной цепной реакции про-моторной области uGt1 Promotor (ta)n. результаты. При проведении теста с гипокалорийной диетой чувствительность и специфичность при повышении уровня билирубина более чем на 21,4 мкмоль/л составляла 73,8 и 100% соответственно. При проведении пробы с фенобарбиталом нормализация уровня билирубина отмечена у 68 (77,2%) больных, чувстви-тельность теста составила 82,9% и специфичность -63,3%. Последовательное применение двух функциональных тестов увеличивает чувствительность и специфичность диагностики. Изменение функциональных проб отмечено у гомозиготных и гетерозиготных пациентов. Заключение. При проведении комбинаций пробы с низкокалорийной диетой и фенобарби-талом получены достаточные по диагностическому уровню результаты. Ключевые слова: непрямая гипербилирубинемия, болезнь Жильбера.Prevalence of genetic defect of uGt 1A1 in population is appreciable, the homozygous carriage takes place from 5 to 10% in different regions, and the heterozygote carriage reaches 40-45%. Diagnostics of the Gilbert's disease (GD) also leads a lot of time often to hyper diagnosis of chronic hepatitis, or quite often patients not been fully investigated. Aim. research objective: development of algorithm of diagnostics of illness of Gilbert. Material and methods. research included 88 people (43 (49%) of patients with GD, 25 (28%) patients with chronic hepatitis and 20 (23%) patients of control group. to all patients assays with a low-calorie diet and fenobarbital, genetic inspection by means of polimerase chain reaction of the pro-motor uGt1 Promotor (ta) n area were carried out. Results. When carrying out dough with a hypohigh-calorie diet sensitivity and s...

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The Utility of Rifampin in Diagnosing Gilbertʼs Syndrome

Cited by 24 publications

References 15 publications

Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia

Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia

Gilbert syndrome in a young boy with thalassemia trait: a rare association

Clinical value of functional assays in diagnostics of Gilbert’s disease

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