Mutation in SGPL1, Causing Sphingosine-1-Phosphate Lyase Deficiency, Leads to a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome

被引:0
|
作者
Braslavsky, D. [1 ]
Barbagelata, E. [2 ]
Prasad, R. [3 ]
Cassinelli, H. [1 ]
Maharaj, A. [3 ]
Piantanida, J. J. [2 ]
Wainberg, E. [2 ]
Vallejo, G. [2 ]
Metherell, L. [3 ]
Bergada, I [1 ]
机构
[1] Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI Div Endocrinol, Buenos Aires, DF, Argentina
[2] Hosp Ninos Dr Ricardo Gutierrez, Serv Nefrol, Buenos Aires, DF, Argentina
[3] Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, London, England
来源
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
O-2
引用
收藏
页码:1 / 2
页数:2
相关论文
共 35 条
  • [1] Mutations in SGPL1, the Gene 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
    Barbagaleta, 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
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 65 - 66
  • [2] 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
  • [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] 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
  • [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] 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
  • [8] 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
  • [9] 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)
  • [10] Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1
    Linhares, Natalia Duarte
    Arantes, Rodrigo Rezende
    Araujo, Stanley Almeida
    Pena, Sergio D. J.
    CLINICAL KIDNEY JOURNAL, 2018, 11 (04) : 462 - 467