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sphingosine phosphate lyase insufficiency syndrome:a systematic review

World Journal of Pediatrics 2023年第5期19卷 425-437页

作者： Zahra Pournasiri Abbas Madani Fatemeh Nazarpack John A.Sayer Zahra Chavoshzadeh Fatemeh Nili Paulina Tran Julie D.Saba Mahnaz Jamee Pediatric Nephrology Research Center Research Institute for Children’s HealthShahid Beheshti University of Medical SciencesTehranIran Department of Pediatric Nephrology Children’s Medical CenterPediatric Chronic Kidney Disease Research CenterTehran University of Medical SciencesTehranIran Translational and Clinical Research Institute Faculty of Medical SciencesNewcastle UniversityCentral ParkwayNewcastle upon TyneNE13BZUK Renal Services Newcastle Upon Tyne Hospitals NHS Foundation TrustNewcastle upon TyneNE77DNUK NIHR Newcastle Biomedical Research Centre Newcastle UniversityNewcastle upon TyneNE45PLTyne and WearUK Immunology and Allergy Department Mofid Children’s HospitalShahid Beheshti University of Medical SciencesTehran15514-15468Iran Department of Pathology Imam Khomeini Complex HospitalTehran University of Medical SciencesTehranIran Allergy Immunology Division Department of PediatricsChildren’s Hospital of PhiladelphiaPhiladelphiaUSA Perelman School of Medicine at the University of Pennsylvania PhiladelphiaUSA Division of Hematology/Oncology Department of PediatricsUniversity of CaliforniaSan FranciscoCAUSA

Background sphingosine-1-phosphate lyase insufficiency syndrome(SPLIS)or nephrotic syndrome type-14 is caused by biallelic mutations in ***,we conducted a systematic review to delineate the characteristics of SPLIS *** A literature search was performed in PubMed,Web of Science,and Scopus databases,and eligible studies were *** all patients,demographic,clinical,laboratory,and molecular data were collected and *** Fifty-five SPLIS patients(54.9%male,45.1%female)were identified in 19 *** consanguinity and positive family history were reported in 70.9%and 52.7%of patients,*** 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)*** 30 different mutations in SGPL1,the most common was c.665G>A(***222Gln)in 11(20%)***-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.

关键词： Nephrotic syndrome type 14 Immunodeficiency Lymphopenia sphingosine-1-phosphate lyase 1 sphingosine-1-phosphate lyase insufficiency syndrome

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