Plasma KL-6 reflects pulmonary severity and longitudinal response to enzyme replacement therapy in acid sphingomyelinase deficiency type B
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.
Authors
- Karla Cifuentes-Uribe
- Magali Pettazzoni (ORCID: https://orcid.org/0000-0002-9569-912X)
- Ségolène Turquier (ORCID: https://orcid.org/0000-0001-5894-4491)
- Cécile Acquaviva (ORCID: https://orcid.org/0000-0002-3828-6847)
- Roseline Froissart
- Nathalie Guffon (ORCID: https://orcid.org/0000-0002-3052-2366)
- Lucie Boulière
Institutions
- Structural and Molecular Basis of Infectious Systems (FR)
- Hospices Civils de Lyon (FR)
- Hôpital Louis Pradel (FR)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2026-07-30
- DOI
- https://doi.org/10.1016/j.ymgmr.2026.101343
- Primary Topic
- Sphingolipid Metabolism and Signaling
- Type
- article
- Field-Weighted Citation Impact
- 0.00