Renal tubular acidosis:Varied aetiologies and clinical presentations:Three case reports  

作　　者：Akhila Bhandarkar Anwitha Varmudy Hiya Boro Sowrabha Bhat 

机构地区：[1]Department of Endocrinology,K.S.Hegde Medical Academy,Mangalore 575018,Karnātaka,India [2]Department of Nephrology,Indiana Hospital and Heart Institute,Mangalore 575002,Karnātaka,India [3]Department of Endocrinology,Aadhar Health Institute,Hisar 125001,Haryāna,India [4]Department of Endocrinology,Yenepoya Medical College,Mangalore 575018,Karnātaka,India

出　　处：《World Journal of Nephrology》2025年第2期168-177,共10页世界肾病学杂志(英文)

摘　　要：BACKGROUND Renal tubular acidosis(RTA)refers to a group of kidney disorders characterized by defective acid excretion or bicarbonate reabsorption,leading to metabolic acidosis.This case series presents three cases of RTA with distinct etiologies and clinical manifestations.These cases emphasize the necessity of a comprehensive evaluation of RTA,considering both renal and systemic origins.CASE SUMMARY The first case describes a female patient with osteopetrosis-related RTA,diagnosed with Guibaud-Vainsel syndrome,emphasizing the importance of genetic assessment.The second case delineates RTA secondary to focal segmental glomerulosclerosis,associating tubular dysfunction with glomerular pathology.In the first two cases whole exome sequencing confirmed genetic diagnosis.The third case illuminates RTA as a complication of Graves’disease,highlighting autoimmune implications.CONCLUSION These cases underscore the interdisciplinary approach essential in RTA management.Understanding the diverse pathophysiology of RTA aids in tailored therapeutic strategies and improved patient outcomes.

关 键 词：Renal tubular acidosis Guibaud-Vainsel syndrome Marble brain disease OSTEOPETROSIS Focal segmental glomerulosclerosis Graves’disease Case series Case report 

分 类 号：R692[医药卫生—泌尿科学]