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, 2022 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Review
  • Publication Date: 2022
  • Doi Number: 10.1007/s00467-022-05656-5
  • Journal Name: PEDIATRIC NEPHROLOGY
  • Journal Indexes: Science Citation Index Expanded, Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
  • Keywords: Sphingosine-1-phosphate lyase, SGPL1, Nephrotic syndrome, Sphingolipidosis, Adrenal insufficiency, SPHINGOSINE 1-PHOSPHATE, ADRENAL INSUFFICIENCY, MUTATIONS

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.