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

2016 ◽  
Author(s):  
Rathi Prasad ◽  
Avinaash Maharaj ◽  
Eirini Meimaridou ◽  
Paul VanVeldhoven ◽  
Federica Buonocore ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Adrenal Insufficiency ◽  
Primary Adrenal Insufficiency ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Sphingosine 1 Phosphate

scholarly journals Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

2017 ◽  
Vol 127 (3) ◽  
pp. 942-953 ◽  
Author(s):  
Rathi Prasad ◽  
Irene Hadjidemetriou ◽  
Avinaash Maharaj ◽  
Eirini Meimaridou ◽  
Federica Buonocore ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Adrenal Insufficiency ◽  
Primary Adrenal Insufficiency ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Sphingosine 1 Phosphate

scholarly journals SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency

2018 ◽  
Vol 104 (5) ◽  
pp. 1484-1490 ◽  
Author(s):  
Nikolaos Settas ◽  
Rebecca Persky ◽  
Fabio R Faucz ◽  
Nicole Sheanon ◽  
Antonis Voutetakis ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Adrenal Insufficiency ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Primary Adrenal Insufficiency ◽  
Sphingosine 1 Phosphate ◽  
Recessive Genes ◽  
Initiation Of Therapy ◽  
Glucocorticoid Deficiency

Abstract Context Multiple autosomal recessive genes have been etiologically linked to primary adrenal insufficiency (PAI). Recently, sphingosine-1-phosphate lyase 1 (SGPL1) gene mutations were recognized as a cause of steroid-resistant nephrotic syndrome type 14 (NPHS14), a sphingolipidosis with multisystemic manifestations, including PAI. Objective To check if SGPL1 mutations are involved in the pathogenesis of PAI in patients who do not exhibit nephrotic syndrome. Methods Sequencing of the SGPL1 gene in 21 patients with familial glucocorticoid disease or triple A syndrome. Results We identified two missense SGPL1 variants in four patients, two of whom were first cousins. We describe in detail the proband, a boy born to Saudi Arabian consanguineous parents with a homozygous c.665G>A, p.R222Q SGPL1 variant. The patient presented with hypoglycemia and seizures at age 2 years and was ultimately diagnosed with PAI (isolated glucocorticoid deficiency). Brain MRI showed abnormalities in the basal ganglia consistent with a degenerative process albeit the patient had no neurologic symptoms. Conclusions New genetic causes of PAI continue to be identified. We suggest that screening for SGPL1 mutations should not be reserved only for patients with nephrotic syndrome but may also include patients with PAI who lack other clinical manifestations of NPHS14 because, in certain cases, kidney disease and accompanying features might develop. Timely diagnosis of this specific sphingolipidosis while the kidneys still function normally can lead to prompt initiation of therapy and improve outcome.

A rare cause of steroid-resistant nephrotic syndrome in a child: Answers

2019 ◽  
Vol 35 (4) ◽  
pp. 621-623
Author(s):  
Lale Guliyeva ◽  
Yılmaz Tabel ◽  
Ali Düzova ◽  
Nusret Akpolat ◽  
Seza Özen ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Suramath Isaranuwatchai ◽  
Ankanee Chanakul ◽  
Chupong Ittiwut ◽  
Chalurmpon Srichomthong ◽  
Vorasuk Shotelersuk ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Kidney Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Treatment Plan ◽  
Unknown Etiology ◽  
Pediatric Case ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Whole Exome

Chronic kidney disease of unknown etiology (CKDu) has been a problem in renal practice as indefinite diagnosis may lead to inappropriate management. Here, we report a 54-year-old father diagnosed with CKDu at 33 years old and his 8-year-old son with steroid-resistant nephrotic syndrome. Using whole-exome sequencing, both were found to be heterozygous for c.737G>A (p.Arg246Gln) in LMX1B. The diagnosis of LMX1B-associated nephropathy has led to changes in the treatment plan with appropriate genetic counseling. The previously reported cases with this particular mutation were also reviewed. Most children with LMX1B-associated nephropathy had nonnephrotic proteinuria with normal renal function. Interestingly, our pediatric case presented with steroid-resistant nephrotic syndrome at 8 years old and progressed to ESRD requiring peritoneal dialysis at the age of 15 years. Our report emphasized the need of genetic testing in CKDu for definite diagnosis leading to precise management.

scholarly journals MP032NEXT GENERATION GENE PANEL SCREENING IN STEROID-RESISTANT NEPHROTIC SYNDROME

2016 ◽  
Vol 31 (suppl_1) ◽  
pp. i353-i353
Author(s):  
Beata S. Lipska-Ziętkiewicz ◽  
Olivia Boyer ◽  
Olivier Gribouval ◽  
Mansoureh Tabatabaei ◽  
Cecile Fourrage ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Gene Panel ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

SP021COQ6 AND COQ2 MUTATIONS ASSOCIATED WITH STEROID RESISTANT NEPHROTIC SYNDROME

2017 ◽  
Vol 32 (suppl_3) ◽  
pp. iii110-iii113
Author(s):  
Maddalena Gigante ◽  
Sterpeta Diella ◽  
Luisa Santangelo ◽  
Ottavio Amatruda ◽  
Gianluca Caridi ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome
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