Division of Nephrology and Endocrinology, The University of Tokyo Graduate School of Medicine, Tokyo, Japan
Nephrology Center, Toranomon Hospital Kajigaya, Kawasaki, Japan.
BMJ Case Rep. 2022 Mar 14;15(3):e247393. doi: 10.1136/bcr-2021-247393.
A woman in her 50s with a three-decade history of biopsy-proven focal segmental glomerulosclerosis and a family history of end-stage kidney disease presented with worsening proteinuria and declining kidney function after three decades of immunosuppressive therapy. While a repeat kidney biopsy did not reveal findings diagnostic of Alport syndrome, genetic testing demonstrated a heterozygous mutation in , which confirmed the diagnosis of X-linked Alport syndrome. The heterozygous in-frame deletion mutation may explain her intact hearing and relatively mild symptoms. Genetic testing enables diagnosis of Alport syndrome of various phenotypes, some of which cannot be diagnosed conventionally with clinical course and kidney biopsy. Genetic disorders including collagen IV nephropathy should be considered as a differential diagnosis in patients with focal segmental glomerulosclerosis, especially when a patient has early-onset proteinuria, a family history of kidney disease, syndromic features or proteinuria refractory to glucocorticoid treatment.
一位 50 多岁的女性，有 30 年的活检证实的局灶节段性肾小球硬化病史和家族性终末期肾病病史，在接受了 30 年的免疫抑制治疗后，蛋白尿加重和肾功能下降。虽然重复的肾活检没有发现符合 Alport 综合征的诊断结果，但基因检测显示 存在杂合突变，这证实了 X 连锁 Alport 综合征的诊断。杂合框内缺失突变可能解释了她完整的听力和相对较轻的症状。基因检测可诊断各种表型的 Alport 综合征，其中一些表型不能通过临床病程和肾活检常规诊断。包括胶原 IV 肾病在内的遗传性疾病应在局灶节段性肾小球硬化患者中被视为鉴别诊断，尤其是当患者有早发性蛋白尿、肾脏病家族史、综合征特征或对糖皮质激素治疗无反应的蛋白尿时。
