Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients
Our results demonstrate that SPLIS is a phenotypically heterogeneous condition. We find that patients diagnosed with SPLIS nephropathy in the first year of life and patients presenting with prenatal findings represent two high-risk subgroups, whereas patients harboring the R222Q SGPL1 variant fare better than the rest. Time to progression from onset of proteinuria to end stage kidney disease varies from less than one month to five years, and kidney transplantation may be lifesaving.
Authors
- Zubair Khan (ORCID: https://orcid.org/0000-0001-5732-7678)
- Nicole Davis Weaver (ORCID: https://orcid.org/0000-0002-7205-9621)
- Gönül Büyükyılmaz (ORCID: https://orcid.org/0000-0001-7888-7295)
- Tülay Güran (ORCID: https://orcid.org/0000-0003-2658-6866)
- Christine Mincham
- Nancy P. Keller (ORCID: https://orcid.org/0000-0002-4386-9473)
- Ehtesham Khalid (ORCID: https://orcid.org/0000-0002-7004-0644)
- Julie Deane Saba (ORCID: https://orcid.org/0000-0002-4894-919X)
- Julian Midgley
- Sam Mehr (ORCID: https://orcid.org/0000-0003-2483-917X)
- Georgie Mathew (ORCID: https://orcid.org/0000-0002-7670-4296)
- Khalid Alhasan (ORCID: https://orcid.org/0000-0002-4291-8536)
- Indu Khosla
- Kathrin Buder (ORCID: https://orcid.org/0000-0002-5425-0772)
- Harry Lesmana (ORCID: https://orcid.org/0000-0001-5496-3839)
- Hong Xu (ORCID: https://orcid.org/0000-0001-7617-0872)
- Norbert Teig
Institutions
- Cincinnati Children's Hospital Medical Center (US)
- Cleveland Clinic (US)
- Royal Children's Hospital (AU)
- Ochsner Health System (US)
- Christian Medical College, Vellore (IN)
- University of California, San Francisco (US)
- Princess Margaret Hospital for Children (AU)
- Alberta Children's Hospital (CA)
- King Saud University (SA)
- Memorial Ankara Hospital (TR)
- University Children's Hospital Tübingen (DE)
- University Children's Hospital Zurich (CH)
- Education and Research Institute (US)
- SRCC Children’s Hospital (IN)
- Children's Hospital of Fudan University (CN)
- Perth Children's Hospital
- Marmara University (TR)
- Ruhr University Bochum (DE)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-09-27
- DOI
- https://doi.org/10.1186/s13023-024-03311-w
- Citations
- 4
- Primary Topic
- Sphingolipid Metabolism and Signaling
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- National Institutes of Health
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development