Abstract：
We present a case of nephronophthisis 13 that resulted from WDR19 variants. The patient, a nine-year-old Japanese boy, had detection of mild proteinuria during a school urine screening. Urinalysis revealed mild proteinuria without hematuria. Blood tests indicated pancytopenia, mild elevation of liver enzymes, and kidney dysfunction. Ultrasound examination disclosed hepatosplenomegaly. Abdominal computed tomography and bone marrow assessments ruled out malignant tumors. Subsequent kidney and liver biopsies suggested nephronophthisis and congenital hepatic fibrosis. Furthermore, comprehensive genetic analysis through next-generation sequencing revealed compound heterozygous variants in WDR19 (NM_025132.4), including the previously reported c.3533G > A, p.(Arg1178Gln), and c.3703G > A, p.(Glu1235Lys) variants, confirming the diagnosis of nephronophthisis 13. There is potential need for liver and kidney transplantation in patients with nephronophthisis and hepatic fibrosis. Early diagnosis is therefore crucial to mitigate delays in treating complications associated with kidney and hepatic insufficiency and to facilitate preparation of transplantation. To achieve early diagnosis of nephronophthisis, it is imperative to consider it as a differential diagnosis when extrarenal symptoms and kidney dysfunction coexist, particularly when mild proteinuria is observed through opportunistic urinalysis. Genetic testing is important because nephronophthisis manifests as diverse symptoms, necessitating an accurate diagnosis. Next-generation sequencing was shown to be invaluable for the genetic diagnosis of nephronophthisis, given the numerous identified causative genes.
摘要：
我们介绍了一例由WDR19变体引起的肾phronophthisis13。病人,一个九岁的日本男孩,在学校尿液筛查中检测到轻度蛋白尿。尿液分析显示轻度蛋白尿，无血尿。血液检查显示全血细胞减少症,肝酶轻度升高，和肾功能障碍。超声检查显示肝脾肿大。腹部计算机断层扫描和骨髓评估排除了恶性肿瘤。随后的肾脏和肝脏活检提示肾单位和先天性肝纤维化。此外，通过下一代测序进行的综合遗传分析揭示了WDR19（NM_025132.4）中的复合杂合变体，包括之前报道的c.3533G>A，p.(Arg1178Gln)，c.3703G>A，p.（Glu1235Lys）变体，确认肾单位的诊断13.有可能需要肝和肾脏移植的患者有肾和肾肾和肾和肾。因此，早期诊断对于减轻与肾和肝功能不全相关的并发症的治疗延迟以及促进移植准备至关重要。为了实现肾单位的早期诊断，当肾外症状和肾功能障碍并存时，必须考虑将其作为鉴别诊断，特别是当通过机会性尿液分析观察到轻度蛋白尿时。基因检测很重要，因为肾单位视表现为不同的症状，需要准确的诊断。下一代测序被证明对肾单位的遗传诊断非常有价值，考虑到众多已确定的致病基因。
