A Saudi child with Sphingosine Phosphate Lyase insufficiency syndrome

Abstract

Background: Sphingosine Phosphate Lyase Insufficiency Syndrome SPLIS is a recently described condition, which is associated with loss of function mutations in SGPL1, encoding sphingosine-1-phosphate lyase. In 2017, several groups reported this novel childhood syndrome that featured a wide range of presentations including fetal hydrops, steroid-resistant nephrotic syndrome (SRNS), primary adrenal insufficiency (PAI), rapid or insidious neurological deterioration, immunodeficiency, acanthosis and endocrine abnormalities. Case Presentation: A 7-year-old boy was presented to us with primary adrenal insufficiency on hydrocortisone following pediatrics endocrinology at our hospital. Genetic testing identified a homozygous variant of sphingosine-1-phosphate lyase 1 (NM 003901: exon8: c.665G>A: p.R222Q). At the same time, he was found to have nephrotic syndrome, and renal function rapidly deteriorated. Biopsy of the right kidney showed focal segmental glomerulosclerosis with collapsing features and acute interstitial nephritis. Later, he received a living- related renal transplant. He is doing well after the transplant. Conclusion: Patients with primary adrenal insufficiency should be carefully followed to develop nephrotic syndrome features, and molecular testing is the key to the diagnosis of the underlying etiology. This is the first reported case with sphingosine-1-phosphate lyase 1 that underwent renal transplantation in our region.