原发性胆汁性胆管炎继发范科尼综合征1例

Fanconi syndrome secondary to primary biliary cholangitis:a case report

原发性胆汁性胆管炎为一类自身免疫性疾病,部分患者可合并肾脏累及,其中肾小管酸中毒为常见累及形式,但较少同时出现范科尼综合征。该文报道1例因乏力、肾功能不全及胆管酶异常起病的66岁女性患者,表现为Ⅱ型肾小管酸中毒及完全性范科尼综合征,抗线粒体抗体强阳性,合并高IgM血症及Ⅲ型冷球蛋白血症。肾活检病理符合间质性肾炎改变,电镜下可见近曲小管上皮细胞线粒体形态异常。经足量激素治疗后肾功能部分改善,酸碱平衡及电解质紊乱恢复正常。

Primary biliary cirrhosis/cholangitis is an autoimmune disease.Renal tubular acidosis is a common form in PBC cases,but Fanconi syndrome is rarely reported.The paper reported a 66-year-old female patient with fatigue,renal insufficiency and elevated bile duct enzymes.The patient presented with type 2 proximal renal tubular acidosis and complete Fanconi syndrome.Laboratory examinations showed high-titer-positive anti-mitochondrial antibodies,elevated serum IgM,and type 3 cryoglobulinemia.Renal biopsy revealed interstitial nephritis,and electron micrographs showed abnormal mitochondria in proximal tubular epithelial cells.The patient's renal function ameliorated,and acid-base imbalance and electrolyte disturbances were corrected after high-dose glucocorticoid treatment.