Genetic Testing in Liver Disease

Schonfeld, Emily A.; Brown, Robert S.

doi:10.1016/j.cld.2017.06.001

Cited by 10 publications

(4 citation statements)

References 69 publications

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“…The diagnostic criteria of BRIC include at least two episodes of jaundice and pruritis lasting weeks to months. Episodes are separated by a symptom-free interval lasting anywhere from several months to years [8]. Patients typically present during the first two decades of life.…”

Section: Discussionmentioning

confidence: 99%

The Mystery of Episodic Recurrent Jaundice in a Young Male: Cholestasis With a Normal Gamma-Glutamyl Transferase

Gupta¹,

Ali²,

Abreo³

et al. 2021

Cureus

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Benign recurrent intrahepatic cholestasis (BRIC) is a very rare autosomal recessive genetic disorder which presents with recurrent jaundice. We report the case of a young male with a history of methamphetamine use who presented with recurrent episodes of right upper quadrant abdominal pain, vomiting, dark urine, and pale stools. These symptoms always resolved within four weeks of presentation. During these episodes, the patient had a cholestatic pattern derangement of liver function tests with a normal gamma-glutamyl transferase (GGT). Workup for abnormal transaminases was unremarkable. A percutaneous liver biopsy obtained on the third visit was notable for a parenchymal lobule that exhibited slight Kupffer cell hyperplasia and subtle evidence of canalicular cholestasis. There was no evidence of cirrhosis, steatosis, hepatitis, or malignancy. Thus, a diagnosis of BRIC was made, and the patient was managed conservatively. Recognition of this rare entity is critical since its benign natural history is reassuring for the patient, and physicians can refrain from repetitive expansive and costly workups.

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Section: Discussionmentioning

confidence: 99%

The Mystery of Episodic Recurrent Jaundice in a Young Male: Cholestasis With a Normal Gamma-Glutamyl Transferase

Gupta¹,

Ali²,

Abreo³

et al. 2021

Cureus

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“…1). There were very few information about gender difference of serum ceruloplasmin in children [9,19,20]. Previous study indicated that serum ceruloplasmin has no gender difference except being higher in girls during puberty due to estrogen stimulation [19].…”

Section: Discussionmentioning

confidence: 99%

Assessment of Diagnostic Value of Serum Ceruloplasmin for Wilson’s Disease in Children

Zhang

et al. 2021

Preprint

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Background: Serum ceruloplasmin is one of the major diagnostic parameters for Wilson’s disease (WD). Age and gender difference of serum ceruloplasmin remain controversy. This study aims to assess diagnostic value of serum ceruloplasmin for WD in children. Methods: Serum ceruloplasmin were measured in 317 WD patients, 21 heterozygotes, 372 healthy control children and 154 non-WD patients. Receiver operating characteristic (ROC) curve was used to determine the diagnostic accuracy of serum ceruloplasmin for WD in children. Results: Among healthy controls, serum ceruloplasmin was mildly low in the infants younger than 6 months, and then presented around 26–33 mg/dl from 6 months to 15 years. Few (8.1%) of healthy children had serum ceruloplasmin < 20 mg/dL. Serum ceruloplasmin was 5.7 ± 4.7 mg/dl in WD patients, 25.6 ± 5.9 mg/dl in heterozygous carriers. Only 1.9% of WD patients had serum ceruloplasmin > 20 mg/dL. Serum ceruloplasmin had gender difference, higher in healthy boys than healthy girls, and also higher in asymptomatic WD boys than asymptomatic WD girls (p < 0.01, p < 0.05). Serum ceruloplasmin presented genotypic difference. WD patients with R778L homozygotes exhibited lower level of serum ceruloplasmin than WD patients without R778L (p < 0.05). The ROC curve revealed that serum ceruloplasmin, at a cutoff value of 16.8 mg/dL, had the highest AUC value (0.990) with a sensitivity of 95.9% and a specificity of 93.6%. Conclusions: Serum ceruloplasmin is a reliable diagnostic criteria for WD in children. Gender and genotypic difference of serum ceruloplasmin should be considered. The cutoff value of serum ceruloplasmin < 16.8 mg/dL may provide the highest accuracy for diagnosis of WD in children.

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“…Additionally, elevated serum bilirubin levels, particularly in GS patients, have been associated with a reduced risk of diabetes, metabolic syndrome, and obesity, along with autoimmune and neurodegenerative diseases, a ributed to its antioxidant and anti-inflammatory properties [23,27,33]. The antioxidant properties of bilirubin play a pivotal role in mitigating oxidative stress and inflammation, contributing to its protective effects against various diseases [28].…”

Section: Protective Effects Of Gilbert's Syndromementioning

confidence: 99%

Gilbert’s Syndrome: The Good, the Bad and the Ugly

De Silva,

Nuwanshika,

Niriella

et al. 2024

Preprint

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Gilbert's syndrome (GS) is a common hereditary condition characterized by mild increases in serum bilirubin levels due to inherited defects in bilirubin metabolism. This review, based on data from peer-reviewed articles and journals spanning from 1977 to January 2024, provides a comprehensive overview of over four decades of research on GS. Early studies primarily focused on defining the clinical and genetic characteristics of the syndrome, laying the foundation for subsequent investigations. More recent research has delved into the genetic mechanisms underlying the reduced expression of bilirubin UDP-glucuronosyltransferase, which has significantly enhanced our understanding of the pathogenesis of GS. Furthermore, recent studies have shed light on the clinical implications of GS, including its association with non-alcoholic fatty liver disease and mortality risk, highlighting the complex interplay between genetic factors, bilirubin metabolism, and clinical outcomes. Despite its generally benign nature, thorough research is essential to fully understand the impact of GS on patients' lives. This review emphasizes the importance of ongoing research to deepen our understanding of GS and its broader implications.

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Genetic Testing in Liver Disease

Cited by 10 publications

References 69 publications

The Mystery of Episodic Recurrent Jaundice in a Young Male: Cholestasis With a Normal Gamma-Glutamyl Transferase

The Mystery of Episodic Recurrent Jaundice in a Young Male: Cholestasis With a Normal Gamma-Glutamyl Transferase

Assessment of Diagnostic Value of Serum Ceruloplasmin for Wilson’s Disease in Children

Gilbert’s Syndrome: The Good, the Bad and the Ugly

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