{
  "abstract": "Background\n\nGaucher disease (GD) is a rare lysosomal disorder classified, on the basis of neurological involvement, into type 1 (GD1, non-neuronopathic) and types 2 (GD2) and 3 (GD3) (neuronopathic). Data on morbidity and mortality in Latin American cohorts remain scarce.Aims\n\nTo characterise morbidity and mortality patterns in a Brazilian GD cohort.Methods\n\nRetrospective cohort study at a single GD referral centre in Porto Alegre, Brazil (2003-2023; n = 53; GD1 = 45, GD2 = 4, GD3 = 4). Diagnosis was molecularly confirmed by Sanger and massive parallel sequencing of GBA1. Comorbidities and causes of death were retrieved by chart review; survival was estimated by Kaplan-Meier analysis. Results: Median follow-up was 15 years. In GD1, comorbidities were predominantly psychiatric (71%), metabolic/endocrinological (69%) and cardiovascular (60%). Nine patients (17%) died: four GD1 patients (median age 65 years; three from malignancy, one from sepsis), all four GD2 patients (median age 5 months; respiratory or hepatic failure, sepsis) and one GD3 patient (Sudden Unexpected Death in Epilepsy at 27 years).Conclusions\n\nThe phenotype-specific mortality pattern - malignancy as the leading cause of death in GD1, uniform early death in GD2 reflecting the disease's neurological trajectory rather than a failure of enzyme replacement therapy, and neurological death in GD3 - underscores the substantial burden of oncological, cardiovascular, metabolic and neurological comorbidities in this population and supports systematic multidisciplinary surveillance as a routine component of GD care in Brazil, even in resource-limited settings.Take-home message\n\nAdult patients with Gaucher disease type 1 require close clinical monitoring for oncological, cardiovascular, metabolic and psychiatric comorbidities. Gaucher disease type 2 remains a devastating disease with a poor prognosis under current therapies.",
  "abstract_shown": true,
  "affiliations": [
    "School of Medicine, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.",
    "National Institute for Rare Diseases (InRaras), Porto Alegre, Brazil.",
    "Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.",
    "Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Brazil.",
    "Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Experimental Research Center, HCPA, Porto Alegre, Brazil.",
    "Universidade do Vale do Rio dos Sinos (UNISINOS), São Leopoldo, RS, Brazil.",
    "Department of Genetics, UFRGS, Porto Alegre, Brazil."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Lucas Ferreira Teixeira"
    },
    {
      "affs": [
        1,
        2,
        3
      ],
      "name": "Fabiano Poswar"
    },
    {
      "affs": [
        1,
        3,
        4
      ],
      "name": "Dévora Natalia Randon"
    },
    {
      "affs": [
        1,
        4,
        5
      ],
      "name": "Amanda Pasqualotto"
    },
    {
      "affs": [
        1,
        2,
        3,
        4,
        6
      ],
      "name": "Ida Vanessa Doederlein Schwartz"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/a32nbynhgw6s6.bib",
  "cited_by": 0,
  "doi": "10.1016/j.ymgmr.2026.101369",
  "fulltext_url": "https://europepmc.org/articles/PMC13695159",
  "id": "a32nbynhgw6s6",
  "issns": [
    "2214-4269"
  ],
  "landing_url": "https://europepmc.org/article/MED/42927298",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2737|Lysosomal Storage Disorders Research"
    ]
  ],
  "openalex": "W7222810821",
  "pdf_url": "https://europepmc.org/articles/PMC13695159?pdf=render",
  "pmcid": "PMC13695159",
  "pmid": "42927298",
  "published": "2026-10-17",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/a32nbynhgw6s6.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:21:18Z",
      "native_id": "MED:42927298",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42927298"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2737|Lysosomal Storage Disorders Research",
      "subfield": "physiology"
    }
  ],
  "title": "Insights into morbidity and mortality in Gaucher disease: a cohort study.",
  "title_text": "Insights into morbidity and mortality in Gaucher disease: a cohort study.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:21:18Z",
  "url": "https://research.draconitic.com/paper/a32nbynhgw6s6",
  "venue": "Molecular genetics and metabolism reports",
  "versions": []
}