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Sphingosine Phosphate Lyase Insufficiency Syndrome: A Systematic Review Publisher Pubmed



Pournasiri Z1 ; Madani A2 ; Nazarpack F1 ; Sayer JA3, 4, 5 ; Chavoshzadeh Z6 ; Nili F7 ; Tran P8, 9 ; Saba JD10 ; Jamee M1, 6
Authors
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Authors Affiliations
  1. 1. Pediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. 2. Department of Pediatric Nephrology, Children’s Medical Center, Pediatric Chronic Kidney Disease Research Center, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom
  4. 4. Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, United Kingdom
  5. 5. NIHR Newcastle Biomedical Research Centre, Newcastle University, Tyne and Wear, Newcastle upon Tyne, NE45PL, United Kingdom
  6. 6. Immunology and Allergy Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, 15514-15468, Iran
  7. 7. Department of Pathology, Imam Khomeini Complex Hospital, Tehran University of Medical Sciences, Tehran, Iran
  8. 8. Allergy Immunology Division, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, United States
  9. 9. Perelman School of Medicine at the University of Pennsylvania, Philadelphia, United States
  10. 10. Division of Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, CA, United States

Source: World Journal of Pediatrics Published:2023


Abstract

Background: Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) or nephrotic syndrome type-14 is caused by biallelic mutations in SGPL1. Here, we conducted a systematic review to delineate the characteristics of SPLIS patients. Methods: A literature search was performed in PubMed, Web of Science, and Scopus databases, and eligible studies were included. For all patients, demographic, clinical, laboratory, and molecular data were collected and analyzed. Results: Fifty-five SPLIS patients (54.9% male, 45.1% female) were identified in 19 articles. Parental consanguinity and positive family history were reported in 70.9% and 52.7% of patients, respectively. Most patients (54.9%) primarily manifested within the first year of life, nearly half of whom survived, while all patients with a prenatal diagnosis of SPLIS (27.5%) died at a median [interquartile (IQR)] age of 2 (1.4–5.3) months (P = 0.003). The most prevalent clinical feature was endocrinopathies, including primary adrenal insufficiency (PAI) (71.2%) and hypothyroidism (32.7%). Kidney disorders (42, 80.8%) were mainly in the form of steroid-resistant nephrotic syndrome (SRNS) and progressed to end-stage kidney disease (ESKD) in 19 (36.5%) patients at a median (IQR) age of 6 (1.4–42.6) months. Among 30 different mutations in SGPL1, the most common was c.665G > A (p.Arg222Gln) in 11 (20%) patients. Twenty-six (49.1%) patients with available outcome were deceased at a median (IQR) age of 5 (1.5–30.5) months, mostly following ESKD (23%) or sepsis/septic shock (23%). Conclusion: In patients with PAI and/or SRNS, SGPL1 should be added to diagnostic genetic panels, which can provide an earlier diagnosis of SPLIS and prevention of ESKD and other life-threatening complications. © 2022, Children's Hospital, Zhejiang University School of Medicine.
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