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1
Advanced Chronic Kidney Disease (CKD) in a Patient With Alstrom Syndrome.一名患有阿尔斯特伦综合征患者的晚期慢性肾脏病
Cureus. 2024 May 15;16(5):e60334. doi: 10.7759/cureus.60334. eCollection 2024 May.
2
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Yi Chuan. 2022 Dec 20;44(12):1148-1157. doi: 10.16288/j.yczz.22-217.
5
Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.Alström 综合征患者中 ALMS1 基因的新突变。
Intern Med. 2021 Dec 1;60(23):3721-3728. doi: 10.2169/internalmedicine.6467-20. Epub 2021 Jun 19.
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Diagnosing Alström syndrome in a patient followed up with syndromic obesity for years.对一名患有综合征性肥胖多年的患者进行阿尔斯特伦综合征的诊断。
Intractable Rare Dis Res. 2022 May;11(2):84-86. doi: 10.5582/irdr.2022.01024.
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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.44个土耳其家族中阿尔斯特伦综合征的表型和分子遗传谱以及土耳其阿尔斯特伦综合征的文献综述
J Hum Genet. 2015 Jan;60(1):1-9. doi: 10.1038/jhg.2014.85. Epub 2014 Oct 9.
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A CASE OF ALSTRÖM SYNDROME WITH A NOVEL VARIANT IN ALMS1 GENE PRESENTING WITH CONE ROD DYSTROPHY AS FIRST FINDING.一例伴有ALMS1基因新变异的阿尔斯特伦综合征，以视锥视杆营养不良为首发表现。
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Western Diet Promotes Renal Injury, Inflammation, and Fibrosis in a Murine Model of Alström Syndrome.西方饮食促进 Alström 综合征小鼠模型的肾脏损伤、炎症和纤维化。
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本文引用的文献

1
A review of Alström syndrome: a rare monogenic ciliopathy.阿尔斯特伦综合征综述：一种罕见的单基因纤毛病。
Intractable Rare Dis Res. 2021 Nov;10(4):257-262. doi: 10.5582/irdr.2021.01113.
2
Sequencing of 640,000 exomes identifies variants associated with protection from obesity.对 64 万外显子组进行测序，确定了与肥胖保护相关的变异。
Science. 2021 Jul 2;373(6550). doi: 10.1126/science.abf8683.
3
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.多基因背景会影响一级基因组条件中单基因变异的外显率。
Nat Commun. 2020 Aug 20;11(1):3635. doi: 10.1038/s41467-020-17374-3.
4
Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial.PBI-4050治疗阿尔斯特伦综合征患者：一项2期单中心单臂开放标签试验的研究方案
BMC Endocr Disord. 2018 Nov 26;18(1):88. doi: 10.1186/s12902-018-0315-6.
5
Coronary artery disease in Alström syndrome.Alström 综合征中的冠状动脉疾病。
Eur J Hum Genet. 2012 Jan;20(1):117-8. doi: 10.1038/ejhg.2011.168. Epub 2011 Sep 7.
6
Alström syndrome.阿尔斯特伦综合征。
Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17.
7
Is arterial stiffening in Alström syndrome linked to the development of cardiomyopathy?
Eur J Clin Invest. 2007 Feb;37(2):99-105. doi: 10.1111/j.1365-2362.2007.01759.x.
8
A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence.阿尔斯特伦综合征蛋白alms1在肾脏纤毛发生和细胞静止中的作用。
PLoS Genet. 2007 Jan 5;3(1):e8. doi: 10.1371/journal.pgen.0030008. Epub 2006 Nov 30.
9
Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree.视网膜变性合并肥胖、糖尿病和神经性耳聋：一种不同于劳伦斯-穆恩-巴德-比德尔综合征（迄今未描述过）的特定综合征：基于一个大家系的临床、内分泌学和遗传学检查
Acta Psychiatr Neurol Scand Suppl. 1959;129:1-35.
10
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome.阿尔斯特伦综合征中的早发性肝病合并急性肝衰竭。
Am J Med Genet. 2001 Jun 1;101(1):9-11. doi: 10.1002/ajmg.1292.

一名患有阿尔斯特伦综合征患者的晚期慢性肾脏病

Advanced Chronic Kidney Disease (CKD) in a Patient With Alstrom Syndrome.

作者信息

Ahmed Moeed, Ahmed Abdul R, Farman Rana A

机构信息

Nephrology, Northwestern University, Chicago, USA.

Biochemistry, Lahore Medical and Dental College, Lahore, PAK.

出版信息

Cureus. 2024 May 15;16(5):e60334. doi: 10.7759/cureus.60334. eCollection 2024 May.

DOI:10.7759/cureus.60334
PMID:38883129
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11177241/
Abstract

Alstrom syndrome is an autosomal recessive disease. It affects multiple systems, including cardiovascular, renal, endocrine, and eyes. Our patient is a 25-year-old female who presented with elevated creatinine. Her past medical history was significant for hypothyroidism, polycystic ovarian syndrome, blindness, cataracts, hearing loss, and heart problems. She had genetic testing done that revealed that she was homozygous for the ALMS1 gene and was diagnosed with Alstrom syndrome. She was followed by nephrology in the clinic and had chronic kidney disease (CKD) stage V. The patient traveled to Italy and was lost to follow-up.

摘要

阿尔斯特伦综合征是一种常染色体隐性疾病。它会影响多个系统，包括心血管系统、肾脏、内分泌系统和眼睛。我们的患者是一名25岁女性，肌酐水平升高。她过去的病史包括甲状腺功能减退、多囊卵巢综合征、失明、白内障、听力丧失和心脏问题。她进行了基因检测，结果显示她的ALMS1基因呈纯合状态，被诊断为阿尔斯特伦综合征。她在诊所接受肾病科随访，患有慢性肾脏病（CKD）V期。该患者前往意大利后失去了随访。