An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome

Ahel, Ivona Butorac; Dekanić, Kristina Baraba; Palčevski, Goran; Roganović, Jelena

doi:10.1097/mph.0000000000001025

Cited by 10 publications

(9 citation statements)

References 10 publications

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“…Hereditary spherocytosis (HS) is a kind of hemolytic anemia with jaundice, hemolysis, and splenomegaly (Butorac et al, 2018; He et al, 2018) as the main clinical features, caused by changes in the structure of red blood cell membrane proteins. This disease occurs all over the world, with different incidences in different regions.…”

Section: Introductionmentioning

confidence: 99%

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis

Xie

Lei

Cai

et al. 2021

Molec Gen & Gen Med

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Purpose Objective to summarize the clinical features and laboratory findings of 28 Chinese children with hereditary spherocytosis (HS), and analyze these mutations. Method Collected and analyzed the clinical data of all children and their parents, and completed the relevant laboratory examinations of all children. Analyzed the sequence of related genes by second‐generation sequencing technology, and verified the suspected mutations by Sanger sequencing method. Analyzed all biological information using the Single Nucleotide Polymorphism database, the 1000 Human Genome Project, and the Exosome Aggregation Consortium. Result New mutations were detected in the HS coding region of 28 children. Among them, there were 13 cases (46.4%) with ANK1 mutation, 10 cases (35.7%) with SPTB mutation, three cases (10.7%) with SLC4A1 mutation, and two cases (7.2%) with SPTA1 mutation. All mutations cause amino acid changes in the coding gene, as well as subsequent changes in protein structure or loss of function. Conclusion All the newly discovered gene coding region mutation sites detected are the suspected pathogenic causes of the 28 Chinese children. At the same time, the second‐generation gene sequencing technology is an effective means to diagnose HS. Different mutation types and different mutation regions have no significant correlation with the severity of anemia. The novel gene mutation sites in 28 children studied in this paper have not yet been included in the human genome database, dbSNP (v138), or ExAC database. The new gene mutations found in HS children can provide a theoretical basis for further exploring the genetic causes of HS in Chinese children.

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Section: Introductionmentioning

confidence: 99%

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis

Xie

Lei

Cai

et al. 2021

Molec Gen & Gen Med

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“…The reports were summarized in Table II for UGT1A1 genetic mutations and related diseases during the past 4 years. Butorac et al (7) reported the coexistence of hereditary spherocytosis and GS in a 21-month-old girl with unconjugated hyperbilirubinemia. Li et al (20) reported the combination of myeloproliferative neoplasms and the presence of the insertion mutation with the (TA)6TAA box and the missense mutation (G→A) at 211 bp of exon 1 in the UGT1A1 gene.…”

Section: Discussionmentioning

confidence: 99%

“…Several variations in the UGT1A1 gene have been described, including UGT1A1*28, UGT1A1*60 and UGT1A1*93 (3,4). GS in combination with diseases, such as thalassemia, glucose-6 -phosphate dehydrogenase (G6PD) deficiency, spherocytosis and acute lymphoblastic leukemia may potentiate severe hyperbilirubinemia (5)(6)(7)(8)(9). In addition, GS may decrease plasma oxidation and affect drug metabolism, such as irinotecan hydrochloride by decreasing the ability to conjugate drugs (10).…”

Section: Introductionmentioning

confidence: 99%

Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report

Zhou

Gong

et al. 2020

Exp Ther Med

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Gilbert syndrome (GS) is a hereditary unconjugated hyperbilirubinemia that results from mutations in the bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1) gene. To the best of our knowledge, there are currently no reports that focus on patients with systemic lupus erythematosus (SLE) coexisting with GS. The present study aimed to evaluate the clinical characteristics and genotype of UGT1A1 in a Chinese patient with SLE and GS. Complete medical records and laboratory data were reviewed for a patient with SLE referred to Ruijin Hospital (Shanghai, China) for treatment between March 2016 and January 2020. Genetic analysis of the UGT1A1 gene was performed by PCR amplification and Sanger sequencing. The serum total bilirubin and unconjugated bilirubin concentrations on admission were 96.2 and 86.8 µmol/l, respectively. The homozygous mutation c.1456T>G (p.Y486D) in exon 5 was detected in this patient. The patient had a good response to phenobarbital orally at a dose of 30 mg/day and a decrease in serum bilirubin was observed. Elevated unconjugated hyperbilirubinemia in SLE needs to be differentiated from other diseases, such as GS, which can be diagnosed by UGT1A1 genetic sequencing.

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“…2 The calculated rate of coexistence of GS and HS is 15 to 35/million births. 3 Herein, we present a case with jaundice of unknown cause and finally diagnosed as HS combined with GS by the laboratory test results, imaging findings, and the results of liver pathological examination and exome sequencing.…”

Section: Introductionmentioning

confidence: 99%

Hereditary Spherocytosis Associated with Gilbert Syndrome Diagnosed with Liver Biopsy Examination and Exome Sequencing

Zou

Zhang

Tan

et al. 2020

J Coll Physicians Surg Pak

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Depending on which part of the physiological pathway is affected by the pathology, jaundice is classified into three categories: pre-hepatic/hemolytic, hepatic/hepatocellular, and post-hepatic/cholestatic. With routine laboratory tests, most cases of jaundice can be etiologically diagnosed. However, exceptions do occur. Here, we present a case of a 14-year girl who presented with intermittent jaundice for one year that could not be diagnosed with a routine protocol. Her laboratory tests showed a moderate impairment of liver function and a positive osmotic fragility test. Computed tomography scan of her upper abdomen revealed multiple gallbladder stones and splenomegaly. With the help of liver pathological examination and exome sequencing, this patient was finally diagnosed as hereditary spherocytosis combined with Gilbert syndrome.

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An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome

Cited by 10 publications

References 10 publications

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis

Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report

Hereditary Spherocytosis Associated with Gilbert Syndrome Diagnosed with Liver Biopsy Examination and Exome Sequencing

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