References
Lovric S, Goncalves S, Gee HY, Oskouian B et al (2017) Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest 127:912–928. https://doi.org/10.1172/JCI89626
Richards S, Aziz N, Bale S, Bick D et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30
Wai Kwong RM, Maharaj AV, Metherell L, Prasad R (2021) Sphingosine 1- phosphate lyase insufficiency syndrome (SPLIS); a role in multiple endocrinopathies. J Endocr Soc 5:A662. https://doi.org/10.1210/jendso/bvab048.1351
Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S et al (2017) Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. Hum Mutat 38:365–372. https://doi.org/10.1002/humu.23192
Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E et al (2017) Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. J Clin Invest 127:942–953. https://doi.org/10.1172/JCI90171
Linhares ND, Arantes RR, Araujo SA, Pena SDJ (2018) Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1. Clin Kidney J 11:462–467. https://doi.org/10.1093/ckj/sfx130
Taylor VA, Stone HK, Schuh MP, Zhao X, Setchell KD, Erkan E (2019) Disarranged sphingolipid metabolism from sphingosine-1-phosphate lyase deficiency leads to congenital nephrotic syndrome. Kidney Int Rep 4:1763–1769. https://doi.org/10.1016/j.ekir.2019.07.018
Maharaj A, Theodorou D, Banerjee II, Prasad MLA, R, Wallace D, (2020) A sphingosine-1-phosphate lyase mutation associated with congenital nephrotic syndrome and multiple endocrinopathy. Front Pediatr 8:151. https://doi.org/10.3389/fped.2020.00151
Zhao P, Liu ID, Hodgin JB, Benke PI et al (2020) Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation. J Inherit Metab Dis 43:1131–1142. https://doi.org/10.1002/jimd.12238
Atkinson D, Nikodinovic Glumac J, Asselbergh B, Ermanoska B et al (2017) Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. Neurology 88:533–542. https://doi.org/10.1212/WNL.0000000000003595
Martin KW, Weaver N, Alhasan K, Gumus E, Sullivan BR, Zenker M, Hildebrandt F, Saba JD (2020) MRI spectrum of brain involvement in sphingosine-1-phosphate lyase insufficiency syndrome. Am J Neuroradiol 41:1943–1948. https://doi.org/10.3174/ajnr.A6746
Alam S, Piazzesi A, Abd El Fatah M, Raucamp M, van Echten-Deckert G (2020) Neurodegeneration caused by S1P-lyase deficiency involves calcium-dependent tau pathology and abnormal histone acetylation. Cells 9:2189. https://doi.org/10.3390/cells9102189
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Mathew, G., Yasmeen, M.S., Deepthi, R.V. et al. Infantile nephrotic syndrome, immunodeficiency and adrenal insufficiency—a rare cause: Answers. Pediatr Nephrol 37, 817–819 (2022). https://doi.org/10.1007/s00467-021-05377-1
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DOI: https://doi.org/10.1007/s00467-021-05377-1