Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome

被引：0

作者：

Prasad, Rathi ^{[1
]}

Maharaj, Avinaash ^{[1
]}

Meimaridou, Eirini ^{[1
]}

VanVeldhoven, Paul ^{[2
]}

Buonocore, Federica ^{[3
]}

Barbagaleta, Eliana ^{[4
]}

Bergada, Ignacio ^{[5
]}

Cassinelli, Hamilton ^{[5
]}

Das, Urmi ^{[6
]}

Krone, Ruth ^{[7
]}

Saleem, Moin ^{[8
]}

Hacihamdioglu, Bulent ^{[9
]}

Sari, Erkan ^{[10
]}

Storr, Helen ^{[1
]}

Achermann, John ^{[3
]}

Guasti, Leonardo ^{[1
]}

Braslavsky, Debora ^{[5
]}

Guran, Tulay ^{[11
]}

Ram, Nanik ^{[12
]}

Metherell, Lou ^{[1
]}

机构：

[1] Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, Ctr Endocrinol, London, England

[2] KULeuven, LIPIT, Leuven, Belgium

[3] UCL, Dept Genet & Genom Med, Inst Child Hlth, London, England

[4] Hosp Ninos Dr Ricardo Gutierrez, Serv Nefrol, Buenos Aires, DF, Argentina

[5] Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol, CEDIE, Dr Cesar Bergada,CONICET,FEI,Div Endocrinol, Buenos Aires, DF, Argentina

[6] Alder Hey Childrens Hosp, Dept Paediat Endocrinol, Liverpool, Merseyside, England

[7] Birmingham Childrens Hosp, Dept Paediat Endocrinol, Birmingham, W Midlands, England

[8] Bristol Royal Hosp Children, Bristol Childrens Renal Unit, Bristol, Avon, England

[9] Hlth Sci Univ, Suleymaniye Matern & Childrens Training & Res Hos, Dept Pediat Endocrinol & Diabet, Istanbul, Turkey

[10] Gulhane Mil Med Acad, Dept Pediat Endocrinol & Diabet, Ankara, Turkey

[11] Marmara Univ, Dept Pediat Endocrinol & Diabet, Pend Educ & Res Hosp, Istanbul, Turkey

[12] Aga Khan Univ Hosp, Dept Med, Sect Endocrinol, Karachi, Pakistan

来源：

HORMONE RESEARCH IN PAEDIATRICS | 2016年 / 86卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

FC15.2

引用

页码：65 / 66

页数：2

共 45 条

[1] Mutation in SGPL1, Causing Sphingosine-1-Phosphate Lyase Deficiency, Leads to a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome
Braslavsky, D.
Barbagelata, E.
Prasad, R.
Cassinelli, H.
Maharaj, A.
Piantanida, J. J.
Wainberg, E.
Vallejo, G.
Metherell, L.
Bergada, I
HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 1 - 2
[2] Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome
Prasad, Rathi
Hadjidemetriou, Irene
Maharaj, Avinaash
Meimaridou, Eirini
Buonocore, Federica
Saleem, Moin
Hurcombe, Jenny
Bierzynska, Agnieszka
Barbagelata, Eliana
Bergada, Ignacio
Cassinelli, Hamilton
Das, Urmi
Krone, Ruth
Hacihamdioglu, Bulent
Sari, Erkan
Yesilkaya, Ediz
Storr, Helen L.
Clemente, Maria
Fernandez-Cancio, Monica
Camats, Nuria
Ram, Nanik
Achermann, John C.
Van Veldhoven, Paul P.
Guasti, Leonardo
Braslavsky, Debora
Guran, Tulay
Metherell, Louise A.
JOURNAL OF CLINICAL INVESTIGATION, 2017, 127 (03): : 942 - 953
[3] A rare cause of nephrotic syndrome - sphingosine-1-phosphate lyase (SGPL1) deficiency: 2 cases
Spizzirri, Ana Paula
Cobenas, Carlos Jose
Suarez, Angela del Carmen
PEDIATRIC NEPHROLOGY, 2023, 38 (01) : 307 - 308
[4] A rare cause of nephrotic syndrome – sphingosine-1-phosphate lyase (SGPL1) deficiency: 2 cases
Ana Paula Spizzirri
Carlos José Cobeñas
Angela del Carmen Suarez
Pediatric Nephrology, 2023, 38 : 307 - 308
[5] Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications
Janecke, Andreas R.
Xu, Ruijuan
Steichen-Gersdorf, Elisabeth
Waldegger, Siegfried
Entenmann, Andreas
Giner, Thomas
Krainer, Iris
Huber, Lukas A.
Hess, Michael W.
Frishberg, Yaacov
Barash, Hila
Tzur, Shay
Schreyer-Shafir, Nira
Sukenik-Halevy, Rivka
Zehavi, Tania
Raas-Rothschild, Annick
Mao, Cungui
Mueller, Thomas
HUMAN MUTATION, 2017, 38 (04) : 365 - 372
[6] A rare cause of nephrotic syndrome—sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature
Tugba Tastemel Ozturk
Nur Canpolat
Seha Saygili
Umut Selda Bayrakci
Oguz Soylemezoglu
Fatih Ozaltin
Rezan Topaloglu
Pediatric Nephrology, 2023, 38 : 711 - 719
[7] Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Lovric, Svjetlana
Goncalves, Sara
Gee, Heon Yung
Oskouian, Babak
Srinivas, Honnappa
Choi, Won-Il
Shril, Shirlee
Ashraf, Shazia
Tan, Weizhen
Rao, Jia
Airik, Merlin
Schapiro, David
Braun, Daniela A.
Sadowski, Carolin E.
Widmeier, Eugen
Jobst-Schwan, Tilman
Schmidt, Johanna Magdalena
Girik, Vladimir
Capitani, Guido
Suh, Jung H.
Lachaussee, Noelle
Arrondel, Christelle
Patat, Julie
Gribouval, Olivier
Furlano, Monica
Boyer, Olivia
Schmitt, Alain
Vuiblet, Vincent
Hashmi, Seema
Wilcken, Rainer
Bernier, Francois P.
Innes, A. Micheil
Parboosingh, Jillian S.
Lamont, Ryan E.
Midgley, Julian P.
Wright, Nicola
Majewski, Jacek
Zenker, Martin
Schaefer, Franz
Kuss, Navina
Greil, Johann
Giese, Thomas
Schwarz, Klaus
Catheline, Vilain
Schanze, Denny
Franke, Ingolf
Sznajer, Yves
Truant, Anne S.
Adams, Brigitte
Desir, Julie
JOURNAL OF CLINICAL INVESTIGATION, 2017, 127 (03): : 912 - 928
[8] Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency Is Associated with Mitochondrial Dysfunction
Maharaj, Avinaash
Bradshaw, Teisha
Williams, Jack
Guran, Tulay
Braslavsky, Debora
Bruegger, Britta
Metherell, Lou
Prasad, Rathi
HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 78 - 78
[9] Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction
Maharaj, A.
Williams, J.
Bradshaw, T.
Guran, T.
Braslavsky, D.
Casas, J.
Chan, L. F.
Metherell, L. A.
Prasad, R.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 2020, 202
[10] Clinical presentation and management challenges of sphingosine-1-phosphate lyase insufficiency syndrome associated with an SGPL1 variant: a case report
Saeedi, Vahid
Rahimzadeh, Nahid
Ehsanipour, Fahimeh
Shalbaf, Neda
Farahi, Amirhosein
Rashidi, Khalil
Kamalzadeh, Leila
BMC PEDIATRICS, 2025, 25 (01)

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