PEDIATRIC NEPHROLOGY, 2022 (SCI-Expanded)
Article / Review
Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
Sphingosine-1-phosphate lyase, SGPL1, Nephrotic syndrome, Sphingolipidosis, Adrenal insufficiency, SPHINGOSINE 1-PHOSPHATE, ADRENAL INSUFFICIENCY, MUTATIONS
Gazi University Affiliated:
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.