Kim Ha Yeon, Kim Sung Sun, Bae Eun Hui, Ma Seong Kwon, Kim Soo Wan
Department of Internal Medicine, Chonnam National University Medical School, Korea.
Intern Med. 2015;54(22):2899-904. doi: 10.2169/internalmedicine.54.4821. Epub 2015 Nov 15.
A 31-year-old woman with no significant past medical or family history was admitted with complaints of general weakness. Laboratory tests revealed: serum potassium 3.0 mEq/L, arterial blood pH 7.28, serum bicarbonate 17.8 mEq/L and urinary pH 7.0. Double-labeling confocal fluorescence microscopy using H(+)-ATPase and pendrin antibodies demonstrated a decreased expression of these proteins in the patient's renal collecting duct compared to normal controls. Anti-Sjögren's-syndrome-related antigen A (Anti-Ro/SS-A) and anti-Sjögren's syndrome type B (anti-La/SS-B) antibodies were strongly positive with very high titers, consistent with Sjögren's syndrome. We present a case of distal renal tubular acidosis-associated Sjögren's syndrome with a defect in H(+)-ATPase and pendrin in the renal collecting duct.
一名31岁女性，既往无重大病史及家族史，因全身乏力入院。实验室检查结果如下：血清钾3.0 mEq/L，动脉血pH值7.28，血清碳酸氢盐17.8 mEq/L，尿pH值7.0。使用H(+)-ATP酶和pendrin抗体进行的双标记共聚焦荧光显微镜检查显示，与正常对照相比，患者肾集合管中这些蛋白的表达降低。抗干燥综合征相关抗原A（抗Ro/SS-A）和抗干燥综合征B型抗体（抗La/SS-B）呈强阳性且滴度极高，符合干燥综合征。我们报告一例远端肾小管酸中毒相关性干燥综合征病例，该病例肾集合管中H(+)-ATP酶和pendrin存在缺陷。
