Prof. Majid Alfadhel, MD, MHSc, SSC-Ped, ABHS(CH), FCCMG
Professor, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.
Chairman of Genetics and Precision Medicine department(GPM), King Abdullah Specialized Children Hospital (KASCH), King Abdulaziz Medical City, Riyadh, Saudi Arabia
Deputy Executive Director of King Abdullah International Medical Research Centre (KAIMRC), Riyadh Saudi Arabia
Prof. Majid Alfadhel has more than 150 publications in high impact factors journals (including New England Journal of Medicine). He is author of 3 booksContact us About us
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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. A 7-year-old boy presented 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&amp;gt;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. 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.Read Full article