A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature

TAŞTEMEL ÖZTÜRK, TUĞBA; CANPOLAT, NUR; SAYGILI, Seha; BAYRAKCİ, UMUT; Soylemezoglu, Oguz; ÖZALTIN, FATİH; TOPALOĞLU, REZAN

doi:10.1007/s00467-022-05656-5

A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature

TAŞTEMEL ÖZTÜRK T., CANPOLAT N., SAYGILI S. K., BAYRAKCİ U. S., Soylemezoglu O., ÖZALTIN F., ...More

PEDIATRIC NEPHROLOGY, vol.38, no.3, pp.711-719, 2023 (SCI-Expanded, Scopus)

Publication Type: Article / Review
Volume: 38 Issue: 3
Publication Date: 2023
Doi Number: 10.1007/s00467-022-05656-5
Journal Name: PEDIATRIC NEPHROLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
Page Numbers: pp.711-719
Keywords: Sphingosine-1-phosphate lyase, SGPL1, Nephrotic syndrome, Sphingolipidosis, Adrenal insufficiency, SPHINGOSINE 1-PHOSPHATE, ADRENAL INSUFFICIENCY, MUTATIONS
Istanbul University Affiliated: No

Abstract

Background Recently, recessive mutations in SGPL1 (sphingosine-1-phosphate lyase), which encodes the final enzyme of sphingolipid metabolism, have been reported to cause steroid-resistant nephrotic syndrome, adrenal insufficiency, and many other organ/system involvements. We aimed to determine the clinical and genetic characteristics, and outcomes in patients with SGPL1 mutations.