Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025)

Sujun Zheng1, Xiaoyuan Xu2, Yuemin Nan3

  • 1Beijing YouAn Hospital, Capital Medical University, Beijing, China.

Insights

This expert consensus provides guidance for diagnosing and managing inherited hyperbilirubinemia, such as Gilbert syndrome and Crigler-Najjar syndrome. It integrates the latest clinical and research advancements for better patient care.

Area of Science:

  • Hepatology
  • Genetics
  • Internal Medicine

Background:

  • Inherited hyperbilirubinemia encompasses several conditions, including Gilbert syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome, and Rotor syndrome.
  • Accurate diagnosis and management are crucial for patient outcomes.
  • Expert consensus is needed to standardize care based on current knowledge.

Purpose of the Study:

  • To develop an expert consensus on the diagnosis and management of inherited hyperbilirubinemia.
  • To provide clinicians with evidence-based guidance for conditions like Gilbert syndrome and Crigler-Najjar syndrome.
  • To integrate recent clinical and research findings into practical recommendations.

Main Methods:

  • Convening a multidisciplinary panel of Chinese experts in inherited and metabolic liver diseases.
  • Reviewing and integrating the latest advances in clinical practice.
  • Incorporating recent findings from basic research in the field.

Main Results:

  • Development of a comprehensive expert consensus report.
  • Guidelines cover diagnosis and management strategies for specific inherited hyperbilirubinemia conditions.
  • The consensus reflects the collective expertise of leading Chinese specialists.

Conclusions:

  • The expert consensus offers valuable support for clinicians.
  • It aims to improve the diagnosis and management of inherited hyperbilirubinemia.
  • This guidance facilitates informed decision-making in clinical practice.

Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
37.2K
Chromosomal Theory of Inheritance01:39

Chromosomal Theory of Inheritance

In 1866, Gregor Mendel published the results of his pea plant breeding experiments, providing evidence for predictable patterns in the inheritance of physical characteristics. The significance of his findings was not immediately recognized. In fact, the existence of genes was unknown at the time. Mendel referred to hereditary units as “factors.”
60.4K
Inheritance of Chromatin Structures03:17

Inheritance of Chromatin Structures

Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying...
7.6K
Non-nuclear Inheritance01:29

Non-nuclear Inheritance

Most DNA resides in the nucleus of a cell. However, some organelles in the cell cytoplasm⁠—such as chloroplasts and mitochondria⁠—also have their own DNA. These organelles replicate their DNA independently of the nuclear DNA of the cell in which they reside. Non-nuclear inheritance describes the inheritance of genes from structures other than the nucleus.
23.3K
Inheritance01:25

Inheritance

Gregor Mendel's pioneering work on the principles of inheritance fundamentally transformed our understanding of how traits are transmitted from generation to generation. His experiments with pea plants laid the groundwork for the discovery of genes, discrete units within organisms that control heredity.
Each gene exists in pairs, and the combination of these genes from both parents forms an individual's genotype. This genotype is a blueprint of potential traits. Examples of genotype...
1.7K
Nursing Diagnosis01:22

Nursing Diagnosis

Following assessment, a nursing diagnosis is the next step in the nursing process. It begins after the nurse has collected and recorded the patient data. The purpose of diagnosing is to identify how the client responds to actual or potential health processes, identify factors that bestow or that cause health problems, the etiologies, and identify resources or strengths the individual, group, or community can draw on to prevent or resolve problems.
The nursing diagnosis focuses on evidence-based...
4.2K