肾病综合征、皮肤受累及慢性肺病：答案 - Suppr

Nephrotic syndrome, skin involvement, and chronic lung disease: Answers.

作者信息

Atmis Bahriye, Cevizli Derya, Cagli Cagla, Saribas Emel, Karakulak Veysel, Ozcan Dilek, Gok Beyza Irem, Erdogan Kivilcim Eren, Gonlusen Gulfiliz, Bayazit Aysun K

机构信息

Department of Pediatric Nephrology, Faculty of Medicine, Cukurova University, Adana, Turkey.

Department of Pediatric Allergy-Immunology, Faculty of Medicine, Cukurova University, Adana, Turkey.

出版信息

Pediatr Nephrol. 2023 May;38(5):1481-1483. doi: 10.1007/s00467-022-05711-1. Epub 2022 Aug 12.

DOI:10.1007/s00467-022-05711-1

PMID:35960348

Abstract

摘要

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Nephrotic syndrome, skin involvement, and chronic lung disease: Answers.肾病综合征、皮肤受累及慢性肺病：答案

Pediatr Nephrol. 2023 May;38(5):1481-1483. doi: 10.1007/s00467-022-05711-1. Epub 2022 Aug 12.

Nephrotic syndrome, skin involvement, and chronic lung disease: Questions.

Pediatr Nephrol. 2023 May;38(5):1477-1479. doi: 10.1007/s00467-022-05709-9. Epub 2022 Aug 12.

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.未报道的整合素α3突变杂合子的同胞中无肾病损害的ILNEB综合征的存活表型。

Orphanet J Rare Dis. 2016 Oct 7;11(1):136. doi: 10.1186/s13023-016-0514-z.

A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression.一名进展缓慢的 ILNEB 综合征患儿存在 ITGA3 基因纯合剪接突变。

Clin Chim Acta. 2021 Dec;523:430-436. doi: 10.1016/j.cca.2021.10.027. Epub 2021 Oct 28.

First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood.首例因 ITGA3 致病性变异导致的 ILNEB 综合征成年患者。

Eur J Med Genet. 2021 Nov;64(11):104335. doi: 10.1016/j.ejmg.2021.104335. Epub 2021 Sep 4.

Successful kidney transplantation in a patient with neonatal-onset ILNEB.在一名新生儿起病的免疫缺陷、白细胞黏附缺陷和肠病患者中成功进行了肾移植。

Pediatr Transplant. 2021 Aug;25(5):e13971. doi: 10.1111/petr.13971. Epub 2021 Jan 20.

Pulmonary congestion due to hypothyroidism and nephrotic syndrome induced by cold agglutinins.甲状腺功能减退及冷凝集素诱发的肾病综合征所致的肺充血。

Ann Hematol. 2014 Apr;93(4):717-8. doi: 10.1007/s00277-013-1871-5. Epub 2013 Aug 11.

Constitutional absence of epithelial integrin α3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes.上皮细胞整合素 α3 缺失会影响 ILNEB 角质形成细胞细胞微环境的组成。

Matrix Biol. 2018 Dec;74:62-76. doi: 10.1016/j.matbio.2018.07.001. Epub 2018 Jul 3.

Delayed Presentation of Respiratory Symptoms and Prolonged Survival in Homozygous a3 Integrin Deficiency.a3 整合素纯合缺陷导致呼吸症状延迟出现和生存时间延长。

Indian Pediatr. 2020 Mar 15;57(3):268-269.

Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.整合素α3的翻译后修饰在间质性肺病和肾病综合征中的关键作用。

Hum Mol Genet. 2015 Jul 1;24(13):3679-88. doi: 10.1093/hmg/ddv111. Epub 2015 Mar 25.

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Integrin α3 mutation junctional epidermolysis bullosa presenting with hypotrichosis and lacrimal obstruction.整合素α3突变型交界性大疱性表皮松解症伴毛发稀少和泪道阻塞。

JAAD Case Rep. 2023 Oct 30;43:76-79. doi: 10.1016/j.jdcr.2023.10.007. eCollection 2024 Jan.

本文引用的文献

A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression.一名进展缓慢的 ILNEB 综合征患儿存在 ITGA3 基因纯合剪接突变。

Clin Chim Acta. 2021 Dec;523:430-436. doi: 10.1016/j.cca.2021.10.027. Epub 2021 Oct 28.

First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood.首例因 ITGA3 致病性变异导致的 ILNEB 综合征成年患者。

Eur J Med Genet. 2021 Nov;64(11):104335. doi: 10.1016/j.ejmg.2021.104335. Epub 2021 Sep 4.

[Not Available].

J Dtsch Dermatol Ges. 2021 Jun;19(6):899-902. doi: 10.1111/ddg.14381_g.

Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement.一个患有综合征性大疱性表皮松解症（ILNEB）且无肺部受累的家族中成人的纯合子ITGA3错义突变。

J Invest Dermatol. 2021 Nov;141(11):2752-2756. doi: 10.1016/j.jid.2021.03.029. Epub 2021 May 21.

Successful kidney transplantation in a patient with neonatal-onset ILNEB.在一名新生儿起病的免疫缺陷、白细胞黏附缺陷和肠病患者中成功进行了肾移植。

Pediatr Transplant. 2021 Aug;25(5):e13971. doi: 10.1111/petr.13971. Epub 2021 Jan 20.

IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome.国际儿科肾病学会关于儿童激素耐药型肾病综合征诊断和治疗的临床实践推荐意见。

Pediatr Nephrol. 2020 Aug;35(8):1529-1561. doi: 10.1007/s00467-020-04519-1. Epub 2020 May 7.

Delayed Presentation of Respiratory Symptoms and Prolonged Survival in Homozygous a3 Integrin Deficiency.a3 整合素纯合缺陷导致呼吸症状延迟出现和生存时间延长。

Indian Pediatr. 2020 Mar 15;57(3):268-269.

Current understandings in treating children with steroid-resistant nephrotic syndrome.治疗类固醇抵抗型肾病综合征患儿的最新认识。

Pediatr Nephrol. 2021 Apr;36(4):747-761. doi: 10.1007/s00467-020-04476-9. Epub 2020 Feb 21.

A Nonjunctional, Nonsyndromic Case of Junctional Epidermolysis Bullosa With Renal and Respiratory Involvement.一例合并肾脏和呼吸系统受累的非交界型、非综合征性交界性大疱性表皮松解症病例。

JAMA Dermatol. 2019 Apr 1;155(4):498-500. doi: 10.1001/jamadermatol.2018.5368.

Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?遗传性肾病综合征患者激素耐药的原因、人群、时机及检测方法

Pediatr Nephrol. 2019 Feb;34(2):195-210. doi: 10.1007/s00467-017-3838-6. Epub 2017 Nov 27.

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Nephrotic syndrome, skin involvement, and chronic lung disease: Answers.

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