1型假性醛固酮减少症：在两名西班牙裔兄弟姐妹中发现携带SCNN1B基因新突变的新生儿的临床表现及管理
Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings.
作者信息
Pugh Charles P
机构信息
Pediatrics/Neonatology, University of Arkansas for Medical Sciences, Little Rock, USA.
出版信息
Cureus. 2022 Apr 7;14(4):e23918. doi: 10.7759/cureus.23918. eCollection 2022 Apr.
Abstract
Pseudohypoaldosteronism type 1 (PHA1) may manifest in the neonatal period as a life-threatening salt-wasting syndrome providing challenges in recognition and treatment. This case describes a newborn who developed severe dehydration and electrolyte imbalances and subsequently was found to have a novel SCNN1B gene variant resulting in autosomal recessive systemic PHA1.
摘要
1型假性醛固酮减少症（PHA1）在新生儿期可能表现为危及生命的失盐综合征，这给诊断和治疗带来了挑战。本病例描述了一名新生儿，该患儿出现严重脱水和电解质失衡，随后被发现有一个新的SCNN1B基因变异，导致常染色体隐性全身性PHA1。
相似文献
1
Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings.1型假性醛固酮减少症：在两名西班牙裔兄弟姐妹中发现携带SCNN1B基因新突变的新生儿的临床表现及管理
Cureus. 2022 Apr 7;14(4):e23918. doi: 10.7759/cureus.23918. eCollection 2022 Apr.
2
Systemic Pseudohypoaldosteronism Type 1 Due to a Novel Mutation in SCNN1B Gene: A Case Report.因SCNN1B基因新突变导致的1型全身性假性醛固酮减少症：一例报告
EJIFCC. 2022 Oct 28;33(3):268-273. eCollection 2022 Oct.
3
Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.1型假性醛固酮减少症的表型多样性及其与基因型的相关性。
J Pediatr Endocrinol Metab. 2019 Sep 25;32(9):959-967. doi: 10.1515/jpem-2018-0538.
4
Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene.由SCNN1B基因新变异导致的1型假性醛固酮减少症
Endocrinol Diabetes Metab Case Rep. 2016;2016:150104. doi: 10.1530/EDM-15-0104. Epub 2016 Jan 7.
5
Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes.一名患有盐皮质激素受体基因功能多态性的新生儿男性的假性醛固酮减少症。
Ann Pediatr Endocrinol Metab. 2015 Dec;20(4):230-4. doi: 10.6065/apem.2015.20.4.230. Epub 2015 Dec 31.
6
Clinical Management in Systemic Type Pseudohypoaldosteronism Due to Variant and Literature Review.系统型假性醛固酮减少症伴变异型的临床处理及文献复习。
J Clin Res Pediatr Endocrinol. 2021 Nov 25;13(4):446-451. doi: 10.4274/jcrpe.galenos.2020.2020.0107. Epub 2020 Aug 25.
7
A Neonate with Autosomal Dominant Pseudohypoaldosteronism Type 1 Due to a Novel Microdeletion of the Gene at 4q31.23.一名因4q31.23处基因发生新的微缺失而患1型常染色体显性假性醛固酮增多症的新生儿。
Children (Basel). 2021 Nov 25;8(12):1090. doi: 10.3390/children8121090.
8
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.五个导致常染色体隐性假性醛固酮增多症 1 型的 SCNN1A 基因突变。
Eur J Endocrinol. 2013 Apr 15;168(5):707-15. doi: 10.1530/EJE-12-1000. Print 2013 May.
9
A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.一个患有1型假性醛固酮减少症肾型的日本家族中盐皮质激素受体基因的一种新型错义突变。
J Clin Endocrinol Metab. 2000 Dec;85(12):4690-4. doi: 10.1210/jcem.85.12.7078.
10
A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene.1型假性醛固酮减少症伴盐皮质激素受体基因突变1例。
Korean J Pediatr. 2011 Feb;54(2):90-3. doi: 10.3345/kjp.2011.54.2.90. Epub 2011 Feb 28.
引用本文的文献
1
The Epithelial Sodium Channel-An Underestimated Drug Target.上皮钠离子通道：一个被低估的药物靶点。
Int J Mol Sci. 2023 Apr 24;24(9):7775. doi: 10.3390/ijms24097775.
本文引用的文献
1
The mutational constraint spectrum quantified from variation in 141,456 humans.从 141456 名人类个体的变异中量化的突变约束谱。
Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27.
2
Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia.一名新生儿表现为危及生命的高钾血症的假性醛固酮减少症。
Case Rep Endocrinol. 2016;2016:6384697. doi: 10.1155/2016/6384697. Epub 2016 Jan 19.
3
Mechanisms of type I and type II pseudohypoaldosteronism.I 型和 II 型假性醛固酮减少症的发病机制。
J Am Soc Nephrol. 2010 Nov;21(11):1842-5. doi: 10.1681/ASN.2010050457. Epub 2010 Sep 9.
4
Clinical and molecular features of type 1 pseudohypoaldosteronism.1型假性醛固酮减少症的临床和分子特征
Horm Res. 2009;72(1):1-9. doi: 10.1159/000224334. Epub 2009 Jun 30.
5
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.常染色体显性遗传性1型假性醛固酮减少症：发病机制、新生儿致死性证据及成人表型表达
J Am Soc Nephrol. 2006 May;17(5):1429-36. doi: 10.1681/ASN.2005111188. Epub 2006 Apr 12.
6
Clinico-pathological analysis of the cutaneous lesions of a patient with type I pseudohypoaldosteronism.I型假性醛固酮减少症患者皮肤损害的临床病理分析
J Eur Acad Dermatol Venereol. 2005 May;19(3):377-9. doi: 10.1111/j.1468-3083.2004.01173.x.
7
A salt wasting syndrome in infancy.婴儿期的盐耗竭综合征。
Arch Dis Child. 1958 Jun;33(169):252-6. doi: 10.1136/adc.33.169.252.
8
Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism.假性醛固酮减少症中的肺上皮钠通道功能障碍与气道液体过多
N Engl J Med. 1999 Jul 15;341(3):156-62. doi: 10.1056/NEJM199907153410304.
9
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.上皮钠通道亚基的突变会导致盐耗竭伴高钾性酸中毒，即1型假性醛固酮减少症。
Nat Genet. 1996 Mar;12(3):248-53. doi: 10.1038/ng0396-248.
Zotero 插件