Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common monogenic disease that has an adverse impact on the patients' health and quality of life. ADPKD is usually known as “adult‐type disease,” but rare cases have been reported in pediatric patients. We present here a 2‐year‐old Tunisian girl with renal cyst formation and her mother with adult onset ADPKD. Disease‐causing mutation has been searched in PKD1 and PKD2 using Long‐Range and PCR followed by sequencing. Molecular sequencing displayed us to identify a novel likely pathogenic mutation (c.696 T > G; p.C232W, exon 5) in PKD1. The identified PKD1 mutation is inherited and unreported variant, which can alter the formation of intramolecular disulfide bonds essential for polycystin‐1 function. We report here the first mutational study in pediatric patient with ADPKD in Tunisia.

中文翻译：

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突尼斯多囊肾病儿童新突变的检测

常染色体显性多囊肾病（ADPKD）是最常见的单基因疾病，对患者的健康和生活质量有不利影响。ADPKD 通常被称为“成人型疾病”，但在儿科患者中也有罕见病例的报道。我们在此介绍了一名患有肾囊肿形成的 2 岁突尼斯女孩，她的母亲患有成人 ADPKD。已使用长距离和 PCR 并随后进行测序在 PKD1 和 PKD2 中搜索了致病突变。分子测序向我们展示了 PKD1 中一种新的可能致病突变（c.696 T > G；p.C232W，外显子 5）。已鉴定的 PKD1 突变是遗传的和未报告的变异，它可以改变多囊蛋白 1 功能所必需的分子内二硫键的形成。