婴儿肾病综合征、免疫缺陷和肾上腺功能不全——一种罕见病因：答案 - Suppr

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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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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。

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Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.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.

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。

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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.

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.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.鞘氨醇-1-磷酸裂解酶突变导致原发性肾上腺功能不全和类固醇抵抗性肾病综合征。

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