{
  "abstract": "Progressive familial intrahepatic cholestasis type 3 (PFIC3) is caused by biallelic mutations in the ABCB4 gene and typically presents in childhood. However, the full phenotypic spectrum-particularly adult-onset and pruritus-free forms-remains under-recognized. We report the case of a 28-year-old male who presented with pruritus-free decompensated cirrhosis after a 10-year diagnostic delay. Genetic testing revealed compound heterozygous ABCB4 variants [c.249C>A (p.Asp83Glu) and c.1466A>G (p.Asn489Ser)], which were initially classified as variants of uncertain significance (VUS). Proactive family screening identified his asymptomatic 14-year-old sister, who carried the same genotype and exhibited significant gamma-glutamyl transferase (GGT) elevation (142.1 U/L) but no pruritus. Perfect genotype-phenotype cosegregation in the two siblings, combined with the absence of these variants in population databases (PM2 and PP1 criteria per American College of Medical Genetics and Genomics [ACMG] guidelines), provided decisive evidence for reclassifying the VUS as \"Likely Pathogenic.\" This family defines a pruritus-free continuous PFIC3 spectrum and demonstrates that systematic screening of all first-degree relatives upon proband diagnosis is essential for enabling pre-symptomatic intervention. The key learning point is that ABCB4 deficiency should be considered in adults with cryptogenic cirrhosis even without pruritus, and family screening can resolve diagnostic uncertainty while facilitating early therapy.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Infectious Diseases/Hepatology The Second People's Hospital of Gansu Province Lanzhou China.",
    "Department of Healthcare-Associated Infection Management The Second People's Hospital of Gansu Province Lanzhou China."
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 4,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Rongxia Ma",
      "orcid": "0009-0003-8956-9147"
    },
    {
      "affs": [
        0
      ],
      "name": "Wenjie Zhang"
    },
    {
      "affs": [
        0
      ],
      "name": "Xiaojuan Yang"
    },
    {
      "affs": [
        1
      ],
      "name": "Haojun Zhang"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/4fbs11540ys23.bib",
  "cited_by": 0,
  "doi": "10.1002/ccr3.73455",
  "fulltext_url": "https://europepmc.org/articles/PMC13740366",
  "id": "4fbs11540ys23",
  "issns": [
    "2050-0904"
  ],
  "landing_url": "https://europepmc.org/article/MED/42996793",
  "language": "eng",
  "licence": "CC-BY-NC",
  "licence_label": "CC BY-NC",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2730|Drug Transport and Resistance Mechanisms"
    ]
  ],
  "openalex": "W7225425665",
  "pdf_url": "https://europepmc.org/articles/PMC13740366?pdf=render",
  "pmcid": "PMC13740366",
  "pmid": "42996793",
  "published": "2026-11-05",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/4fbs11540ys23.ris",
  "sources": [
    {
      "first_seen": "2026-11-09T15:20:34Z",
      "native_id": "MED:42996793",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42996793"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2730|Drug Transport and Resistance Mechanisms",
      "subfield": "oncology"
    }
  ],
  "title": "ABCB4 Deficiency Presenting as a Pruritus-Free Continuous Spectrum From Childhood Cholestasis to Adult Cirrhosis: A Case Report.",
  "title_text": "ABCB4 Deficiency Presenting as a Pruritus-Free Continuous Spectrum From Childhood Cholestasis to Adult Cirrhosis: A Case Report.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T15:20:34Z",
  "url": "https://research.draconitic.com/paper/4fbs11540ys23",
  "venue": "Clinical case reports",
  "versions": []
}