PDF(Pubmed)
Abstract：
UNASSIGNED: Nephronophthisis (NPHP) is a rare autosomal recessive inherited tubulointerstitial nephropathy, the most prevalent genetic cause of end-stage renal disease (ESRD) in children. Convincing evidence indicated that the overall prevalence of NPHP in adult-onset ESRD is very likely to be an underestimation. Therefore, understanding the genetic background and clinicopathologic features of adult-onset NPHP is warranted.
UNASSIGNED: we reported one intriguing case with concurrent NPHP3 c.2694-2_2694-1delAG (splicing) variant and c.1082C > G (p.S361C) variant. A 48-year-old male was admitted to our hospital, complained about renal dysfunction for 10 years, and found right renal space-occupying lesion for 1 week. One of the most interesting clinical features is adult-onset ESRD, which differs from previous cases. Another discovery of this study is that the NPHP harboring NPHP3 deletion may be associated with clear cell renal cell carcinoma.
UNASSIGNED: In conclusion, we report two mutations in the NPHP3 gene that cause NPHP with adult-onset ESRD and renal clear cell carcinoma in a Chinese family, enriching the clinical features of NPHP.
UNASSIGNED: we reported one intriguing case with concurrent NPHP3 c.2694-2_2694-1delAG (splicing) variant and c.1082C > G (p.S361C) variant. A 48-year-old male was admitted to our hospital, complained about renal dysfunction for 10 years, and found right renal space-occupying lesion for 1 week. One of the most interesting clinical features is adult-onset ESRD, which differs from previous cases. Another discovery of this study is that the NPHP harboring NPHP3 deletion may be associated with clear cell renal cell carcinoma.
UNASSIGNED: In conclusion, we report two mutations in the NPHP3 gene that cause NPHP with adult-onset ESRD and renal clear cell carcinoma in a Chinese family, enriching the clinical features of NPHP.
摘要：
■Nephronophthis（NPHP）是一种罕见的常染色体隐性遗传肾小管间质性肾病，儿童终末期肾病（ESRD）最普遍的遗传原因。令人信服的证据表明，成人发病的ESRD中NPHP的总体患病率很可能被低估了。因此,了解成年型NPHP的遗传背景和临床病理特征是必要的.
■我们报告了一个有趣的病例，其中同时存在NPHP3c.2694-2_2694-1delAG（剪接）变体和c.1082C>G（p。S361C)变体。一名48岁的男性住进了我们的医院,抱怨肾功能不全10年，发现右肾占位性病变1周。最有趣的临床特征之一是成年型ESRD，这与以前的情况不同。这项研究的另一个发现是，带有NPHP3缺失的NPHP可能与透明细胞肾细胞癌有关。
■总而言之，我们报道了NPHP3基因中的两个突变，在一个中国家庭中导致NPHP伴成年型ESRD和肾透明细胞癌，丰富了NPHP的临床特点。
■我们报告了一个有趣的病例，其中同时存在NPHP3c.2694-2_2694-1delAG（剪接）变体和c.1082C>G（p。S361C)变体。一名48岁的男性住进了我们的医院,抱怨肾功能不全10年，发现右肾占位性病变1周。最有趣的临床特征之一是成年型ESRD，这与以前的情况不同。这项研究的另一个发现是，带有NPHP3缺失的NPHP可能与透明细胞肾细胞癌有关。
■总而言之，我们报道了NPHP3基因中的两个突变，在一个中国家庭中导致NPHP伴成年型ESRD和肾透明细胞癌，丰富了NPHP的临床特点。
