Distal renal tubular acidosis in a patient with Hashimoto's thyroiditis: a case report.

IF 3.8 3区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY
Nontembiso Mhlana, Marizna Korf, Mogamat Razeen Davids, Mogamat-Yazied Chothia
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Abstract

Renal tubular acidosis (RTA) is a rare disorder that can be inherited or acquired, and results in an inability of the kidneys to maintain normal acid-base balance. We present a case of recurrent, severe hypokalaemia and rhabdomyolysis in a young woman who had an associated normal anion gap metabolic acidosis and was subsequently diagnosed with distal RTA associated with Hashimoto's thyroiditis. Distal RTA associated with Hashimoto's thyroiditis is rare and probably develops because of autoimmune-mediated mechanisms, causing an inability of the H+-ATPase pump in alpha-intercalated cells of the cortical collecting duct to secrete H+, with subsequent failure of urinary acidification. In this case, this hypothesis was supported by the exclusion of common genetic mutations associated with distal RTA. We illustrate that utilizing a systematic, physiology-based approach for challenging electrolyte and acid-base disorders enables identification of the root cause and underlying disease mechanisms.

Abstract Image

桥本甲状腺炎患者远端肾小管酸中毒1例报告。
肾小管酸中毒(RTA)是一种罕见的疾病,可以遗传或获得,并导致肾脏无法维持正常的酸碱平衡。我们报告一例复发性严重低钾血症和横横肌溶解的年轻女性,她有相关的正常阴离子间隙代谢性酸中毒,随后被诊断为远端RTA伴桥本甲状腺炎。与桥本甲状腺炎相关的远端RTA是罕见的,可能是由于自身免疫介导的机制,导致皮质集管α嵌入细胞中的H+- atp酶泵无法分泌H+,随后导致尿酸化失败。在这种情况下,排除与远端RTA相关的常见基因突变支持了这一假设。我们说明,利用系统的、基于生理学的方法来挑战电解质和酸碱紊乱,可以确定根本原因和潜在的疾病机制。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Biochemia Medica
Biochemia Medica 医学-医学实验技术
CiteScore
5.50
自引率
3.00%
发文量
70
审稿时长
>12 weeks
期刊介绍: Biochemia Medica is the official peer-reviewed journal of the Croatian Society of Medical Biochemistry and Laboratory Medicine. Journal provides a wide coverage of research in all aspects of clinical chemistry and laboratory medicine. Following categories fit into the scope of the Journal: general clinical chemistry, haematology and haemostasis, molecular diagnostics and endocrinology. Development, validation and verification of analytical techniques and methods applicable to clinical chemistry and laboratory medicine are welcome as well as studies dealing with laboratory organization, automation and quality control. Journal publishes on a regular basis educative preanalytical case reports (Preanalytical mysteries), articles dealing with applied biostatistics (Lessons in biostatistics) and research integrity (Research integrity corner).
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