Sphingosine phosphate lyase insufficiency syndrome, or SPLIS, is a rare genetic disease in which a type of lipids called sphingolipids build up in the body, often causing damage to the kidney, brain and nerves, adrenal gland and other organs.
SPLIS is characterized by varying combinations of steroid-resistant nephrotic syndrome, primary adrenal insufficiency, testicular insufficiency, hypothyroidism, ichthyosis, lymphopenia/immunodeficiency, and neurologic abnormalities that can include developmental delay, regression / progressive neurologic involvement, cranial nerve deficits, and peripheral motor and sensory neuropathy.
Management of SPLIS consists of several multidisciplinary pillars.
Multidisciplinary management of steroid-resistant nephrotic syndrome, endocrine involvement, immunodeficiency etc.
Routine follow up as requested by specialty care providers and routine monitoring of development progress and educational needs etc.
Nephrotoxic medications; medications that require renal excretion (individuals with renal insufficiency); live vaccines, exposure to infectious agents, and transfusion products that have not been irradiated etc.
SPLIS is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an SGPL1 pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
Watch the informative video below to get an informative insight on SPLIS.
