PEDIATRIC NEPHROLOGY, 2022 (Peer-Reviewed Journal)
Article / Review
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Sphingosine-1-phosphate lyase, SGPL1, Nephrotic syndrome, Sphingolipidosis, Adrenal insufficiency, SPHINGOSINE 1-PHOSPHATE, ADRENAL INSUFFICIENCY, MUTATIONS
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.