A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature
Date
2023Author
ÖZALTIN, FATİH
TAŞTEMEL ÖZTÜRK, TUĞBA
CANPOLAT, NUR
SAYGILI, Seha Kamil
BAYRAKCİ, UMUT SELDA
Soylemezoglu, Oguz
TOPALOĞLU, REZAN
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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.
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