Department of Organ Transplantation, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, PR China; Department of Urology, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, PR China.
Department of Organ Transplantation, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, PR China; Department of Urology, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, PR China.
Transpl Immunol. 2023 Jun;78:101828. doi: 10.1016/j.trim.2023.101828. Epub 2023 Mar 21.
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most common hereditary disease leading to end-stage renal disease in children and adolescents. The NPHP1 gene was the first NPHP gene to be discovered. Pathogenic variation of the NPHP1 gene can cause juvenile renal wasting disease type 1.
Here, we report the first case of living related kidney transplantation of monozygotic twins with NPHP1 nephronophthisis in China; one of these cases involved cross-blood type kidney transplantation. Our experience shows that patients with NPHP1 nephronophthisis have almost no risk recurrent kidney disease following living related kidney transplantation and genetic testing. The two twins recovered well without any complications.
This is the first report of living related kidney transplantation of monozygotic twins with heterozygous deletion of the NPHP1 gene in a Chinese family with NPHP. In addition, genetic testing provides an efficient means of evaluating the safety of living related kidney transplantation in patients with NPHP1 nephronophthisis.
肾髓质囊性病（NPHP）是一种常染色体隐性遗传性囊性肾病，是导致儿童和青少年终末期肾病的最常见遗传性疾病。NPHP1 基因是第一个被发现的 NPHP 基因。NPHP1 基因突变可导致少年型肾单位肾痨 1 型。
本文报道了首例中国同卵双胞胎 NPHP1 肾髓质囊性病活体相关肾移植病例，其中 1 例为交叉血型肾移植。我们的经验表明，NPHP1 肾髓质囊性病患者在活体相关肾移植和基因检测后几乎没有复发性肾病的风险。两名双胞胎均恢复良好，无任何并发症。
这是首例中国 NPHP 家系中 NPHP1 基因杂合缺失的同卵双胞胎活体相关肾移植报道。此外，基因检测为评估 NPHP1 肾髓质囊性病患者活体相关肾移植的安全性提供了一种有效的方法。
