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A 6 month boy with chronic vomiting and severe weight faltering (birth weight 50th to 75th centile dropped to 0.4th centile) originally attributed to gastro-oesophageal reflux was admitted after a period of poor urine output and found to have severe hypernatraemia (Na 168 mmol/l, K 4.1 mmol/l, Urea 16.2 mmol/l, Creatinine 54 umol/l) with high plasma osmolality (330 mosm/kg) and inappropriately low urine osmolality (130 mOsm/Kg). Renal USS was normal with slightly small kidneys...

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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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ea0045oc5.3 | Oral Communications 5- Endocrine | BSPED2016

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 , van Veldhoven Paul , Buonocore Federica , Barbagelata Eliana , Bergada Ignacio , 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 meaning their prognosis is uncertain. We recently investigated families with a novel combination of PAI and steroid resistant nephrotic syndrome.Objective and hypotheses: To discover the genetic defect underlying this syndrome.<p class=...

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Endocrine Abstracts

Brain or the kidneys? Nephrogenic Diabetes Insipidus with loss of Pituitary brightness on MRI.

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

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

BiosciAbstracts