Kidney stones, proteinuria, and renal tubular metabolic acidosis: Pathophysiology link, clinical manifestations, diagnosis, and management
Keywords:
Primary Sjögren syndrome, distal renal tubular acidosis, nephrolithiasis, nephrocalcinosis, chronic kidney disease, tubulointerstitial nephritis, autoimmune kidney disease, hypocitraturiaAbstract
Background: Kidney stone disease is an increasingly recognized contributor to chronic kidney disease (CKD), particularly when associated with metabolic disorders such as distal renal tubular acidosis (dRTA). Primary Sjögren syndrome (pSS), an autoimmune disease primarily affecting exocrine glands, may present with renal involvement before the onset of classical sicca symptoms. Tubulointerstitial nephritis, dRTA, nephrolithiasis, and nephrocalcinosis are important but often underdiagnosed renal manifestations that may lead to progressive renal dysfunction. Aim: To describe the clinical presentation, diagnostic evaluation, pathophysiological mechanisms, and therapeutic management of primary Sjögren syndrome presenting with type 1 distal renal tubular acidosis, nephrolithiasis, nephrocalcinosis, and chronic kidney disease. Methods: A comprehensive review and synthesis of the presented clinical case and relevant literature were undertaken. Clinical findings, laboratory investigations, metabolic urine analysis, autoimmune serology, imaging studies, renal histopathology, genetic testing, differential diagnosis, and treatment outcomes were critically evaluated to establish the relationship between autoimmune renal injury and stone disease. Results: The patient presented with stage 3 CKD, complete type 1 dRTA, chronic tubulointerstitial nephritis, severe hypocitraturia, nephrocalcinosis, and recurrent nephrolithiasis. Autoimmune evaluation revealed positive antinuclear, anti-SSA, and anti-SSB antibodies, while renal biopsy demonstrated T-cell-predominant tubulointerstitial nephritis without glomerular involvement. Genetic testing excluded inherited dRTA.
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