Ilzkovitz Maxime, Kayembe Elikyah Esther, Geers Caroline, Pozdzik Agnieszka
Kidney Stone Clinic, Nephrology Department, Hôpital Brugmann, 1020 Brussels, Belgium.
Pathology Department, Hôpital Brugmann, 1020 Brussels, Belgium.
Healthcare (Basel). 2022 May 2;10(5):836. doi: 10.3390/healthcare10050836.
Kidney stone disease represents a rare cause of chronic kidney disease (2−3%) but has severe clinical consequences. Type 1 renal tubular acidosis is a strong lithogenic condition mainly related to primary Sjögren syndrome. This study aimed to illustrate an unusual presentation of Sjögren syndrome to improve the knowledge about rare kidney stone diseases, and to provide clues for the diagnostic approach in this specific condition. We report the case of a 35-year-old Indian woman with severe nephrocalcinosis and chronic kidney disease with tubular proteinuria who presented for metabolic assessment. We found advanced chronic kidney disease, low serum bicarbonate, permanent alkaline urine with pH at ~7.1, and severe hypocitraturia corresponding to type 1 renal tubular acidosis. The erythrocyte sedimentation rate was high. Serological screening for HAV, HBV, HCV, HIV, EBV was negative and complement was normal. Autoimmune screening showed antinuclear antibodies (>1/1.280) with anti-SSA, anti-SSA/Ro52 and anti-SSB antibodies. Genetic testing excluded an inherited cause of renal tubular acidosis. A renal biopsy showed moderate chronic tubulo-interstitial nephritis without any glomerular involvement. Primary Sjögren syndrome with significant renal involvement was considered, and corticosteroids were then subsequently initiated in combination with potassium citrate with vitamin D substitution. Only partial improvement was observed in electrolytes disturbance. After 15 months, her renal function remained stable. In conclusion, nephrocalcinosis could be the first manifestation of severely impacting diseases such as primary Sjögren syndrome. Chronic kidney disease, bilateral nephrocalcinosis, and metabolic acidosis can be linked through type 1 renal tubular acidosis. Therefore, autoimmune screening for Sjögren syndrome should be considered in such cases.
肾结石病是慢性肾脏病的罕见病因（2%-3%），但具有严重的临床后果。1型肾小管酸中毒是一种主要与原发性干燥综合征相关的强烈致石性疾病。本研究旨在阐述干燥综合征的一种不寻常表现，以增进对罕见肾结石疾病的认识，并为这一特定情况下的诊断方法提供线索。我们报告一例35岁印度女性病例，该患者有严重肾钙质沉着症和慢性肾脏病伴肾小管蛋白尿，前来进行代谢评估。我们发现患者存在晚期慢性肾脏病、血清碳酸氢盐水平低、尿液持续呈碱性，pH值约为7.1，以及与1型肾小管酸中毒相符的严重低枸橼酸尿症。红细胞沉降率升高。甲型肝炎病毒、乙型肝炎病毒、丙型肝炎病毒、人类免疫缺陷病毒、EB病毒的血清学筛查均为阴性，补体正常。自身免疫筛查显示抗核抗体（>1/1280），伴有抗SSA、抗SSA/Ro52和抗SSB抗体。基因检测排除了肾小管酸中毒的遗传病因。肾活检显示中度慢性肾小管间质性肾炎，无任何肾小球受累。考虑为原发性干燥综合征伴显著肾脏受累，随后开始使用皮质类固醇联合柠檬酸钾及维生素D替代治疗。电解质紊乱仅得到部分改善。15个月后，她的肾功能保持稳定。总之，肾钙质沉着症可能是原发性干燥综合征等严重影响疾病的首发表现。慢性肾脏病、双侧肾钙质沉着症和代谢性酸中毒可通过1型肾小管酸中毒相互关联。因此，对于此类病例应考虑进行干燥综合征的自身免疫筛查。
