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.
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。
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