Department of Pediatrics, Dongfang Hospital, Fuzong Clinical Medical College, Fujian Medical University, Fuzhou, Fujian, China.
Department of Nephrology, Rheumatology and Immunology, Fujian Children's Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China.
Pediatr Transplant. 2022 Feb;26(1):e14143. doi: 10.1111/petr.14143. Epub 2021 Oct 3.
Mutations in the ADCK4 gene cause steroid-resistant nephrotic syndrome (NS), namely ADCK4-associated glomerulopathy. Reportedly, 38.5% of patients with ADCK4-associated glomerulopathy had end-stage renal disease (ESRD) at the time of diagnosis of ADCK4-associated glomerulopathy, requiring renal replacement therapy, such as dialysis and kidney transplantation. However, long-term NS recurrence risk of kidney transplantation in patients with ADCK4-associated glomerulopathy is unknown.
The clinical data and mutations in ADCK4 of two siblings with steroid-resistant NS were collected. The long-term prognosis of the two siblings who received kidney transplantation was evaluated.
We describe two siblings with ADCK4-associated glomerulopathy who received deceased donor kidney transplantation and showed no clinical evidence of recurrence of NS during more than 10 years of follow-up.
This suggests that long-term NS recurrence risk of kidney transplantation is low in patients with ADCK4-associated glomerulopathy who progress to ESRD.
ADCK4 基因突变可导致激素耐药性肾病综合征（NS），即 ADCK4 相关性肾小球病。据报道，38.5%的 ADCK4 相关性肾小球病患者在诊断 ADCK4 相关性肾小球病时已进展至终末期肾病（ESRD），需要肾脏替代治疗，如透析和肾移植。然而，ADCK4 相关性肾小球病患者肾移植后长期 NS 复发风险尚不清楚。
收集两例激素耐药性 NS 患者的 ADCK4 基因突变和临床资料。评估两例接受肾移植患者的长期预后。
我们描述了两例 ADCK4 相关性肾小球病患者接受了已故供体肾移植，在超过 10 年的随访中无 NS 复发的临床证据。
这表明进展为 ESRD 的 ADCK4 相关性肾小球病患者肾移植后 NS 复发风险较低。
