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unconjugated hyperbilirubinemia

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https://www.readbyqxmd.com/read/28815739/kernicterus-in-a-boy-with-ornithine-transcarbamylase-deficiency-a-case-report
#1
Eduardo López-Corella, Isabel Ibarra-González, Cynthia Fernández-Lainez, Miguel Á Rodríguez-Weber, Sara Guillén-Lopez, Leticia Belmont-Martínez, David Agüero-Linares, Marcela Vela-Amieva
Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle defect associated with severe and usually fatal hyperammonemia. This study describes a patient with early onset lethal OTCD due to a known pathogenic variant (c.298+1G>A), as well as the novel autopsy finding of kernicterus with relatively low blood concentration of unconjugated bilirubin (UCB) (11.55 mg/dL). The patient was a full-term male with a family history of two previous male siblings who died as newborns after acute neurologic deterioration...
August 16, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28782473/importance-of-hemolysis-and-its-clinical-detection-in-neonates-with-hyperbilirubinemia
#2
Ronald J Wong, Vinod K Bhutani, David K Stevenson
Neonatal hyperbilirubinemia is generally a benign transitional phenomenon, and may even be a protective antioxidant mechanism for human neonates who may be vulnerable to the oxidative stress (compared to life in utero) encountered during birth an extra-uterine oxidative environment (1, 2). The pathophysiologic impact of neonatal unconjugated hyperbilirubinemia has been well reviewed in this supplement (see Jon fill-in). The severity of hyperbilirubinemia varies due to the magnitude of an imbalance between two major contributing processes: (i) an increase bilirubin production rate due to an increase in heme turnover (two to three times that of an adult) due to the degradation of fetal red blood cells (RBCs), which have a shortened lifespan, after birth (3, 4); and/or (ii) a diminished ability of the immature newborn liver to conjugate bilirubin and therefore excrete bilirubin in bile...
August 7, 2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/28751579/promoterless-gene-targeting-without-nucleases-rescues-lethality-of-a-crigler-najjar-syndrome-mouse-model
#3
Fabiola Porro, Giulia Bortolussi, Adi Barzel, Alessia De Caneva, Alessandra Iaconcig, Simone Vodret, Lorena Zentilin, Mark A Kay, Andrés F Muro
Crigler-Najjar syndrome type I (CNSI) is a rare monogenic disease characterized by severe neonatal unconjugated hyperbilirubinemia with a lifelong risk of neurological damage and death. Liver transplantation is the only curative option, which has several limitations and risks. We applied an in vivo gene targeting approach based on the insertion, without the use of nucleases, of a promoterless therapeutic cDNA into the albumin locus of a mouse model reproducing all major features of CNSI Neonatal transduction with the donor vector resulted in the complete rescue from neonatal lethality, with a therapeutic reduction in plasma bilirubin lasting for at least 12 months, the latest time point analyzed...
July 27, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28707558/effect-of-unconjugated-hyperbilirubinemia-on-neonatal-autonomic-functions-evaluation-by-heart-rate-variability
#4
Rahmi Özdemir, Özgür Olukman, Cem Karadeniz, Kıymet Çelik, Nagehan Katipoğlu, Murat Muhtar Yılmazer, Şebnem Çalkavur, Timur Meşe, Sertaç Arslanoğlu
BACKGROUND: Serum bilirubin levels beyond the physiological limits, may lead to alterations in autonomic regulation in a newborn infant. Heart rate variability (HRV), is a noninvasive and quantitative marker of the activity of the autonomic nervous system (ANS). To date, few studies have demonstrated the undesirable effects of severe unconjugated hyperbilirubinemia (UHB) on autonomic functions, and only one study has used HRV as a marker of the autonomic activity. However, the relationship between altered cardiac autonomic functions and UHB by using the HRV derived from 24-hour Holter electrocardiography (ECG) recording has not been investigated previously...
July 25, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28590786/liver-fibrosis-associated-with-crigler-najjar-syndrome-in-a-compound-heterozygote
#5
Cynthia R Fata, Lynette A Gillis, M Cristina Pacheco
Crigler-Najjar syndrome is a hereditary unconjugated hyperbilirubinemia. Two forms of the disease are recognized. Type I is more severe and results in kernicterus if left untreated, and Type II is less severe and responds to phenobarbital. While Crigler-Najjar syndrome is thought by many to have normal liver histology, few reports of the liver pathology exist. Herein, we present a 19-year-old patient with Crigler-Najjar who underwent liver transplantation. The liver showed marked canalicular cholestasis with portal and variable, delicate, bridging fibrosis...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28563973/phototherapy-for-neonatal-hyperbilirubinemia
#6
REVIEW
Susumu Itoh, Hitoshi Okada, Toru Kuboi, Takashi Kusaka
About 60 years ago in England, phototherapy for neonatal hyperbilirubinemia was actually used in clinical practice. It was introduced in Japan about 50 years ago. However, the mechanism of how the serum bilirubin concentration was decreased by the phototherapy was still unknown. The mechanism was identified by chemists, biochemists, and pediatricians. Clarification started with the report that unconjugated bilirubin was excreted into bile after the photoirradiation of Gunn rats. After the molecular conformation of bilirubin by X-ray analysis, the mechanism for bile excretion of unconjugated bilirubin was verified based on geometric configurational photoisomers in the Gunn rat...
May 31, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28512725/clofibrate-as-an-adjunct-to-phototherapy-for-unconjugated-hyperbilirubinemia-in-term-neonates
#7
Prasad Kumar, B Adhisivam, B Vishnu Bhat
OBJECTIVE: To evaluate the efficacy of oral clofibrate as an adjunct to phototherapy for unconjugated hyperbilirubinemia in term neonates. METHODS: This randomized controlled trial was done in the level III neonatal intensive care unit (NICU) of a tertiary care hospital. Ninety term neonates with unconjugated hyperbilirubinemia with serum bilirubin 15-25 mg/dl were randomized to either intervention group (single dose of clofibrate in a dose of 50 mg/kg prior to starting phototherapy) or standard care group (only phototherapy)...
May 17, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28502442/neonatal-cholestasis
#8
REVIEW
Erin Lane, Karen F Murray
Neonatal jaundice is common and usually not concerning when it is secondary to unconjugated hyperbilirubinemia, below the neurotoxic level, and resolves early. Primary care providers should be vigilant, however, about evaluating infants in whom jaundice presents early, is prolonged beyond 2 weeks of life, or presents at high levels. Even in well-appearing infants, fractionated (direct and indirect) bilirubin levels should be obtained in these clinical scenarios to evaluate for potential cholestasis. This review presents an approach to the evaluation of a jaundiced infant and discusses diagnosis and management of several causes of neonatal cholestasis...
June 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/28494109/oncology-drug-dosing-in-gilbert-syndrome-associated-with-ugt1a1-a-summary-of-the-literature
#9
REVIEW
Vincent H Ha, Jennifer Jupp, Roger Y Tsang
Gilbert syndrome (GS) is a hereditary condition that affects ~10% of the population. It is characterized by intermittent, unconjugated hyperbilirubinemia in the absence of hepatocellular damage and hemolysis. Although GS is often described as a benign laboratory finding, it may alter drug metabolism by decreasing the ability to conjugate drugs. Genetic polymorphisms, specifically the UGT1A1*28 allele, may reduce glucuronidation by 30% that severely impacts the ability to metabolize certain medications. Antineoplastic agents used in oncologic settings have toxic side effects, and alterations in metabolism may result in severe or even life-threatening toxicities...
August 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28490767/biliverdin-reductase-inhibitors-did-not-improve-severe-unconjugated-hyperbilirubinemia-in-vivo
#10
Remco van Dijk, Sem J Aronson, Dirk R de Waart, Stan F van de Graaf, Suzanne Duijst, Jurgen Seppen, Ronald Oude Elferink, Ulrich Beuers, Piter J Bosma
We aimed to identify potent biliverdin reductase (BVRA) inhibitors as a novel concept for the treatment of severe unconjugated hyperbilirubinemia. 1280 FDA-approved compounds were screened in vitro for their ability to inhibit human and rat BVRA activity and 26 compounds were identified as BVRA inhibitors. Montelukast and Disulfiram were selected as potentially clinically applicable drugs and tested to reduce serum unconjugated bilirubin (UCB) levels in the Ugt1a1-deficient rat, a model for chronic unconjugated hyperbilirubinemia...
May 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28473932/acquired-thrombotic-thrombocytopenic-purpura-in-a-patient-with-pernicious-anemia
#11
Ramesh Kumar Pandey, Sumit Dahal, Kamal Fadlalla El Jack Fadlalla, Shambhu Bhagat, Bikash Bhattarai
Introduction. Acquired thrombotic thrombocytopenic purpura (TTP) has been associated with different autoimmune disorders. However, its association with pernicious anemia is rarely reported. Case Report. A 46-year-old male presented with blood in sputum and urine for one day. The vitals were stable. The physical examination was significant for icterus. Lab tests' results revealed leukocytosis, macrocytic anemia, severe thrombocytopenia, renal dysfunction, and unconjugated hyperbilirubinemia. He had an elevated LDH, low haptoglobin levels with many schistocytes, nucleated RBCs, and reticulocytes on peripheral smear...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28455345/bilirubin-decreases-macrophage-cholesterol-efflux-and-atp-binding-cassette-transporter-a1-protein-expression
#12
Dongdong Wang, Anela Tosevska, Elke H Heiß, Angela Ladurner, Christine Mölzer, Marlies Wallner, Andrew Bulmer, Karl-Heinz Wagner, Verena M Dirsch, Atanas G Atanasov
BACKGROUND: Mild but chronically elevated circulating unconjugated bilirubin is associated with reduced total and low-density lipoprotein cholesterol concentration, which is associated with reduced cardiovascular disease risk. We aimed to investigate whether unconjugated bilirubin influences macrophage cholesterol efflux, as a potential mechanism for the altered circulating lipoprotein concentrations observed in hyperbilirubinemic individuals. METHODS AND RESULTS: Cholesterol efflux from THP-1 macrophages was assessed using plasma obtained from normo- and hyperbilirubinemic (Gilbert syndrome) humans (n=60 per group) or (heterozygote/homozygote Gunn) rats (n=20 per group) as an acceptor...
April 28, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28412296/impact-of-higher-order-heme-degradation-products-on-hepatic-function-and-hemodynamics
#13
Raphael A Seidel, Thierry Claudel, Franziska A Schleser, Navin K Ojha, Matthias Westerhausen, Sandor Nietzsche, Christoph Sponholz, Frans Cuperus, Sina M Coldewey, Stefan H Heinemann, Georg Pohnert, Michael Trauner, Michael Bauer
BACKGROUND & AIMS: Biliverdin and bilirubin were previously considered end products of heme catabolism; now, however, there is evidence for further degradation to diverse bioactive products. Z-BOX A and Z-BOX B arise upon oxidation with unknown implications for hepatocellular function and integrity. We studied the impact of Z-BOX A and B on hepatic functions and explored their alterations in health and cholestatic conditions. METHODS: Functional implications and mechanisms were investigated in rats, hepatocytic HepG2 and HepaRG cells, human immortalized hepatocytes, and isolated perfused livers...
April 12, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28389660/characteristics-of-the-heme-catabolic-pathway-in-mild-unconjugated-hyperbilirubinemia-and-their-associations-with-inflammation-and-disease-prevention
#14
Christine Mölzer, Marlies Wallner, Carina Kern, Anela Tosevska, René Zadnikar, Daniel Doberer, Rodrig Marculescu, Karl-Heinz Wagner
Heme catabolism exerts physiological functions that impact health through depressing inflammation. Upon reactive pathway progression, as in Gilbert's Syndrome (GS; UGT1A1*28 polymorphism), aggravated health effects have been determined. Based on lower inflammation and improved metabolic health reported for GS, inter-group differences in heme catabolism were explored. Therefore, a case-control study including 120 fasted, healthy, age- and gender matched subjects with/without GS, was conducted. Genetic expressions of HMOX-1 and BLVRA were measured...
April 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28379026/bilirubin-and-atherosclerotic-diseases
#15
REVIEW
L Vítek
Bilirubin is the final product of heme catabolism in the systemic circulation. For decades, increased serum/plasma bilirubin levels were considered an ominous sign of an underlying liver disease. However, data from recent years convincingly suggest that mildly elevated bilirubin concentrations are associated with protection against various oxidative stress-mediated diseases, atherosclerotic conditions being the most clinically relevant. Although scarce data on beneficial effects of bilirubin had been published also in the past, it took until 1994 when the first clinical study demonstrated an increased risk of coronary heart disease in subjects with low serum bilirubin levels, and bilirubin was found to be a risk factor for atherosclerotic diseases independent of standard risk factors...
April 5, 2017: Physiological Research
https://www.readbyqxmd.com/read/28340583/inflammatory-signature-of-cerebellar-neurodegeneration-during-neonatal-hyperbilirubinemia-in-ugt1-mouse-model
#16
Simone Vodret, Giulia Bortolussi, Jana Jašprová, Libor Vitek, Andrés F Muro
BACKGROUND: Severe hyperbilirubinemia is toxic during central nervous system development. Prolonged and uncontrolled high levels of unconjugated bilirubin lead to bilirubin-induced neurological damage and eventually death by kernicterus. Bilirubin neurotoxicity is characterized by a wide array of neurological deficits, including irreversible abnormalities in motor, sensitive and cognitive functions, due to bilirubin accumulation in the brain. Despite the abundant literature documenting the in vitro and in vivo toxic effects of bilirubin, it is unclear which molecular and cellular events actually characterize bilirubin-induced neurodegeneration in vivo...
March 24, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28338110/frequency-of-the-ugt1a1-28-polymorphism-in-a-romanian-cohort-of-gilbert-syndrome-individuals
#17
Viorica E Radoi, Radu I Ursu, Elena Poenaru, Cosmin Arsene, Camil L Bohiltea, Roxana Bohiltea
BACKGROUND AND AIMS: Gilbert syndrome (GS) is characterized by unconjugated hyperbilirubinemia without liver disease or overt hemolysis and it is found in 3-10% of the general population. Inherited hyperbilirubinaemia is attributable to a reduced UGT1A1 activity. The UGT1A1 promoter (TA) repeats variants are documented of being involved in abnormally elevated bilirubin levels. The aim of the present study is to analyze the impact of UGT1A1 promoter variants on bilirubin levels in Romanian patients clinically supected with GS...
March 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28321066/gilbert-syndrome-with-concomitant-hereditary-spherocytosis-presenting-with-moderate-unconjugated-hyperbilirubinemia
#18
Mitsuhiko Aiso, Minami Yagi, Atsushi Tanaka, Kotaro Miura, Ryo Miura, Toshihiko Arizumi, Yoriyuki Takamori, Sayuri Nakahara, Yoshihiro Maruo, Hajime Takikawa
We experienced a case of a 19-year-old man with Gilbert syndrome with concomitant hereditary spherocytosis. The patient presented with moderate unconjugated hyperbilirubinemia, and inherited etiology was strongly suspected. The diagnosis of Gilbert syndrome was confirmed by the genetic analysis of the UGT1A1 gene, demonstrating UGT1A1*28 and compound heterozygote UGT1A1*6. In addition, since the laboratory findings and imaging studies revealed lysemia as well as gallstone and splenomegaly, a diagnosis of hereditary spherocytosis was made as a comorbidity...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28300459/mildly-elevated-unconjugated-bilirubin-is-associated-with-reduced-platelet-activation-related-thrombogenesis-and-inflammation-in-gilbert-s-syndrome
#19
Avinash R Kundur, Abishek B Santhakumar, Andrew C Bulmer, Indu Singh
Gilbert's syndrome (GS) is associated with a mild unconjugated hyperbilirubinemia, increased circulating antioxidant capacity, and reduced cardiovascular disease (CVD) risk. The current study investigated whether mildly elevated circulating unconjugated bilirubin (UCB) is negatively associated with multiple thrombotic risk factors including platelet activity, hemostatic function, and inflammation in individuals with GS. Blood samples were collected from matched GS and control subjects (14 per group). Activation-dependent platelet surface marker expression of PAC-1 (binds to GPIIb/IIIa surface receptors on activated platelets) and CD62P (marker for P-selectin released from activated degranulated platelets) was assessed in adenosine diphosphate (ADP)-stimulated platelets using flow cytometry...
March 16, 2017: Platelets
https://www.readbyqxmd.com/read/28296739/ugt1a1-28-relationship-with-abnormal-total-bilirubin-levels-in-chronic-hepatitis-c-patients-outcomes-from-a-case-control-study
#20
Marcelo Moreira Tavares de Souza, Victor Van Vaisberg, Rodrigo Martins Abreu, Aline Siqueira Ferreira, Camila daSilvaFerreira, Paulo Dominguez Nasser, Helena Scavone Paschoale, Flair José Carrilho, Suzane Kioko Ono
Gilbert syndrome (GS) is a frequent benign clinical condition, marked by intermittent unconjugated hyperbilirubinemia, mostly due to the polymorphism uridine diphosphate-glucuronosyltransferase 1A1*28 (UGT1A1*28). Hyperbilirubinemia has been reported in a GS patient undergoing hepatitis C treatment, and other UGT isoforms polymorphisms have been linked to worse outcomes in viral hepatitis. Yet, little is known to GS contributions' to the liver disease scenario. Our aim was to assess UGT1A1 genotypes' frequency in chronic hepatitis C (CHC) patients and correlate with total bilirubin (TB)...
March 2017: Medicine (Baltimore)
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