Department of Pediatric Nephrology, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan.
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, Kobe, Hyogo, 650-0017, Japan.
CEN Case Rep. 2020 Nov;9(4):418-422. doi: 10.1007/s13730-020-00498-2. Epub 2020 Jun 26.
Alport syndrome (AS) is a progressive kidney disease. Male cases with X-linked AS (XLAS) are reported to develop end-stage kidney disease (ESKD) at the age of around 20-30 years. One risk factor for developing ESKD at a young age is a genotype of having truncating variants in the COL4A5 gene. However, to date, other such factors have remained unclear. Here, we describe a 15-year-old Japanese boy with XLAS who had a missense variant in the COL4A5 gene. He presented with gross hematuria, severe proteinuria, oliguria, systemic edema, body weight gain, and hypertension after pharyngitis. Blood examination showed kidney dysfunction, hypocomplementemia, and elevated antistreptolysin-O level. We diagnosed him with poststreptococcal acute glomerulonephritis (PSAGN) and he was stopped treatment by lisinopril, and received supportive treatment. However, he showed an unusual clinical course for PSAGN and, consequently, developed ESKD 15 months after the onset of PSAGN without recovery from the kidney dysfunction. This case showed that the onset of PSAGN can be a risk factor for AS patients to develop ESKD at a young age.
Alport 综合征(AS)是一种进行性肾脏疾病。据报道,患有 X 连锁 AS(XLAS)的男性病例在 20-30 岁左右会发展为终末期肾病(ESKD)。导致年轻时发生 ESKD 的一个风险因素是 COL4A5 基因中存在截断变异的基因型。然而,迄今为止,其他此类因素仍不清楚。在这里,我们描述了一名 15 岁的日本 XLAS 男孩,他的 COL4A5 基因中存在错义变异。他因咽炎出现肉眼血尿、严重蛋白尿、少尿、全身性水肿、体重增加和高血压。血液检查显示肾功能不全、低补体血症和抗链球菌溶血素 O 水平升高。我们诊断他患有链球菌后急性肾小球肾炎(PSAGN),并停止使用赖诺普利进行治疗,并接受了支持性治疗。然而,他的临床表现异常,与 PSAGN 不符,因此在 PSAGN 发病后 15 个月即发展为 ESKD,肾功能未恢复。该病例表明 PSAGN 的发病可能是 AS 患者年轻时发生 ESKD 的一个危险因素。