成人发病Bartter综合征伴短暂性截瘫1例。

IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL
Oxford Medical Case Reports Pub Date : 2025-07-14 eCollection Date: 2025-07-01 DOI:10.1093/omcr/omaf100
Shahzaib Siddiqui, Shayan Ali Irfan, Shahrukh Ahmed, Mirza Mehmood Ali Baig, Jawad Ahmed, Jawed Iqbal
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引用次数: 0

摘要

Bartter综合征是一种罕见的遗传性肾小管疾病,其特征是代谢性碱中毒、醛固酮增多症和由于Henle上升袢盐重吸收缺陷而导致的盐浪费。该病在产前和新生儿人群中占主导地位,在成人中罕见。只有少数研究提出成人发病的巴特综合症。我们提出了一例成人短暂性截瘫诊断为巴特综合征。22岁男性,突然出现双侧下肢无力和痉挛2天,无腹泻、呕吐、利尿剂、泻药或成瘾史。生化研究显示低钾血症、代谢性碱中毒、尿钾水平升高和血清肾素升高。钾替代疗法最初对改善症状无效。尿钙/肌酐比值升高,血清镁水平正常。与以前报道的病例不同,没有肾钙质沉着症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case of adult-onset Bartter syndrome with transient paraplegia.

Bartter syndrome is a rare inherited renal tubular disorder characterised by metabolic alkalosis, hyperaldosteronism, and salt wasting due to defective salt reabsorption in the ascending loop of Henle. The disease is dominant in the antenatal and neonatal populations and rare in adults. Only a small number of studies present adult-onset Bartter syndrome. We present a case of an adult with transient paraplegia diagnosed with Bartter syndrome. A 22-year-old man presented with sudden bilateral lower limb weakness and cramps for two days, with no history of diarrhoea, vomiting, diuretics, laxatives, or addiction. Biochemical studies revealed hypokalemia, metabolic alkalosis, raised urinary potassium levels and raised serum renin. The potassium replacement therapy was initially ineffective in improving symptoms. The raised urinary calcium to creatinine ratio and normal serum magnesium level were noted. There was no nephrocalcinosis, unlike previously reported cases.

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来源期刊
Oxford Medical Case Reports
Oxford Medical Case Reports MEDICINE, GENERAL & INTERNAL-
CiteScore
0.90
自引率
0.00%
发文量
125
审稿时长
19 weeks
期刊介绍: Oxford Medical Case Reports (OMCR) is an open access, peer-reviewed online journal publishing original and educationally valuable case reports that expand the field of medicine. The journal covers all medical specialities including cardiology, rheumatology, nephrology, oncology, neurology, and reproduction, comprising a comprehensive resource for physicians in all fields and at all stages of training. Oxford Medical Case Reports deposits all articles in PubMed Central (PMC). Physicians and researchers can find your work through PubMed , helping you reach the widest possible audience. The journal is also indexed in the Web of Science Core Collection . Oxford Medical Case Reports publishes case reports under the following categories: Allergy Audiovestibular medicine Cardiology and cardiovascular systems Critical care medicine Dermatology Emergency medicine Endocrinology and metabolism Gastroenterology and hepatology Geriatrics and gerontology Haematology Immunology Infectious diseases and tropical medicine Medical disorders in pregnancy Medical ophthalmology Nephrology Neurology Oncology Paediatrics Pain Palliative medicine Pharmacology and pharmacy Psychiatry Radiology, nuclear medicine, and medical imaging Respiratory disorders Rheumatology Sexual and reproductive health Sports Medicine Substance abuse.
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