Evidence map›Paper›PMID 42571428›Full record

ArticleMolecular genetics and metabolism reports2026

Plasma KL-6 reflects pulmonary severity and longitudinal response to enzyme replacement therapy in acid sphingomyelinase deficiency type B.

Karla Cifuentes-Uribe, Nathalie Guffon, Lucie Boulière, Ségolène Turquier, Cécile Acquaviva-Bourdain, Roseline Froissart, Magali Pettazzoni

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Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Karla Cifuentes-UribeNational Reference Centre for Hereditary Metabolic Diseases, Hospices Civils de Lyon, France.
Nathalie GuffonNational Reference Centre for Hereditary Metabolic Diseases, Hospices Civils de Lyon, France.
Lucie BoulièreDepartment of Biochemistry and Molecular Biology, Lyon University Hospital, France.
Ségolène TurquierDepartment of Pulmonary Function Testing, Louis Pradel Hospital, Hospices Civils de Lyon, France.
Cécile Acquaviva-BourdainDepartment of Biochemistry and Molecular Biology, Lyon University Hospital, France.
Roseline FroissartDepartment of Biochemistry and Molecular Biology, Lyon University Hospital, France.
Magali PettazzoniDepartment of Biochemistry and Molecular Biology, Lyon University Hospital, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Acid sphingomyelinase deficiency (ASMD) type B is frequently complicated by interstitial lung disease without validated circulating pulmonary biomarkers. In this retrospective longitudinal study of five patients treated with enzyme replacement therapy, plasma KL-6 was evaluated in relation to CT-based severity, DLCO, and treatment response. Higher pre-treatment KL-6 concentrations were observed with higher exploratory CT severity grades, and KL-6 levels generally decreased or remained stable during follow-up. A transient rise occurred during SARS-CoV-2 infection. KL-6 may reflect dynamic alveolar epithelial injury in ASMD.

Indexed as

Acid sphingomyelinase deficiencyAlveolar epithelial injuryBiomarkerEnzyme replacement therapyInterstitial lung diseaseKL-6Pulmonary diffusing capacity

Identifiers

PMID42571428
PMCPMC13452365

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.