Gutierrez Jorge O, Zurita Maria F, Zurita Luis A
School of Medicine, Universidad Espíritu Santo (Holy Spirit University), Samborondón, Ecuador.
Department of Rheumatology, Unidad de Enfermedades Reumáticas y Autoinmunes [UNERA] (Unit of Rheumatology and Autoimmune Diseases), Guayaquil, Ecuador.
Am J Case Rep. 2018 Apr 3;19:392-396. doi: 10.12659/ajcr.907503.
BACKGROUND Sjögren's syndrome is a chronic inflammatory autoimmune disease, which is also known as sicca syndrome, due to the symptoms of dry eyes and dry mouth, and is associated with other connective tissue diseases and autoimmune diseases. Sjögren's syndrome can also be associated with renal involvement. Fanconi's syndrome is associated with impaired reabsorption in the proximal renal tubule associated with tubulointerstitial nephritis and is associated with renal tubular acidosis and hypophosphatemia. Osteomalacia is a rare association with Sjögren's syndrome, which may result from renal disease. CASE REPORT We report the case of a 34-year-old woman who presented with xerostomia, xerophthalmia, bone fractures, and osteomuscular pain. A Schirmer test showed reduced tear production, and a biopsy of a minor salivary gland of the lip, with high titers of antinuclear antibodies (ANA), and positive anti-SSA/Ro and anti-SSB/La antibodies confirmed the diagnosis of Sjögren's syndrome. Serum and urinary laboratories tests and clinical manifestations confirmed Fanconi's syndrome associated with osteomalacia. The patient was treated with potassium supplements, 25-hydroxyvitamin D (25(OH)D), hydroxychloroquine, mycophenolate mofetil, and prednisone, with a favorable response. CONCLUSIONS This case is of a rare association between Sjögren's syndrome, Fanconi's syndrome, and osteomalacia. Even though these are rare clinical associations, early detection can improve the quality of life and prevent further complications.
背景 干燥综合征是一种慢性炎症性自身免疫性疾病,因其干眼和口干症状也被称为口眼干燥症,且与其他结缔组织疾病和自身免疫性疾病相关。干燥综合征也可伴有肾脏受累。范科尼综合征与近端肾小管重吸收受损有关,伴有肾小管间质性肾炎,并与肾小管酸中毒和低磷血症相关。骨软化症是干燥综合征一种罕见的关联疾病,可能由肾脏疾病引起。病例报告 我们报告一例34岁女性患者,其表现为口干、眼干、骨折和骨肌肉疼痛。施密特试验显示泪液分泌减少,唇部小唾液腺活检显示抗核抗体(ANA)滴度高,抗SSA/Ro和抗SSB/La抗体阳性,确诊为干燥综合征。血清和尿液实验室检查及临床表现确诊为与骨软化症相关的范科尼综合征。该患者接受了补钾、25-羟维生素D(25(OH)D)、羟氯喹、霉酚酸酯和泼尼松治疗,反应良好。结论 本病例为干燥综合征、范科尼综合征和骨软化症之间罕见的关联。尽管这些是罕见的临床关联,但早期检测可改善生活质量并预防进一步并发症。