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Infantile nephrotic syndrome, immunodeficiency and adrenal insufficiency-a rare cause: Answers.

作者信息

Mathew Georgie, Yasmeen M S, Deepthi R V, Swain Meenakshi, Vattam Avinash, Shah Mehul A, Agarwal Indira

机构信息

Division of Pediatric Nephrology, Christian Medical College, Vellore, India.

Little Star Children's Hospital, Hyderabad, India.

出版信息

Pediatr Nephrol. 2022 Apr;37(4):817-819. doi: 10.1007/s00467-021-05377-1. Epub 2022 Jan 9.

DOI:10.1007/s00467-021-05377-1
PMID:34999987
Abstract
摘要

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2
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本文引用的文献

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MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome.磁共振成像在神经鞘氨醇-1-磷酸酶缺乏症中的脑受累谱。
AJNR Am J Neuroradiol. 2020 Oct;41(10):1943-1948. doi: 10.3174/ajnr.A6746. Epub 2020 Aug 27.
2
A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy.一种与先天性肾病综合征和多发性内分泌病相关的鞘氨醇-1-磷酸裂解酶突变
Front Pediatr. 2020 Apr 8;8:151. doi: 10.3389/fped.2020.00151. eCollection 2020.
3
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.
鞘氨醇磷酸酶缺乏症：系统评价。
World J Pediatr. 2023 May;19(5):425-437. doi: 10.1007/s12519-022-00615-4. Epub 2022 Nov 12.
鞘氨醇磷酸酶缺乏症综合征对维生素 B6 辅酶补充的反应性。
J Inherit Metab Dis. 2020 Sep;43(5):1131-1142. doi: 10.1002/jimd.12238. Epub 2020 May 4.
4
Disarranged Sphingolipid Metabolism From Sphingosine-1-Phosphate Lyase Deficiency Leads to Congenital Nephrotic Syndrome.鞘氨醇-1-磷酸裂解酶缺乏导致的鞘脂代谢紊乱引发先天性肾病综合征。
Kidney Int Rep. 2019 Aug 7;4(12):1763-1769. doi: 10.1016/j.ekir.2019.07.018. eCollection 2019 Dec.
5
Nephrotic syndrome and adrenal insufficiency caused by a variant in .由……中的一个变体引起的肾病综合征和肾上腺功能不全。
Clin Kidney J. 2018 Aug;11(4):462-467. doi: 10.1093/ckj/sfx130. Epub 2017 Nov 13.
6
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.鞘氨醇-1-磷酸裂解酶SGPL1缺乏与先天性肾病综合征和先天性肾上腺钙化有关。
Hum Mutat. 2017 Apr;38(4):365-372. doi: 10.1002/humu.23192. Epub 2017 Mar 6.
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J Clin Invest. 2017 Mar 1;127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6.
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