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ea0044oc1.1 | Early Career Oral Communications | SFEBES2016

Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome

Prasad Rathi , Maharaj Avinaash , Meimaridou Eirini , VanVeldhoven Paul , Buonocore Federica , Bergada Ignacio , Barbagelata Eliana , Cassinelli Hamilton , Das Urmi , Krone Ruth , Saleem Moin , Hacihamdioglu Bulent , Sari Erkan , Storr Helen , Achermann John , Guasti Leonardo , Braslavsky Debora , Guran Tulay , Ram Nanik , Metherell Lou

Background: Primary adrenal insufficiency (PAI) is most commonly congenital in children. PAI is genetically heterogeneous with some gene defects causing syndromic disease. A third of patients have no genetic diagnosis rendering their prognosis uncertain. We investigated families with a novel combination of PAI and steroid resistant nephrotic syndrome.Objective and hypotheses: To discover the genetic defect underlying this syndrome....

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Endocrine Abstracts

Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome

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