Background

Congenital nephrotic syndrome of the Finnish type (CNF) caused by NPHS1 mutations is a rare disease. Infants with CNF can develop many complications, but hepatobiliary complications are uncommon. CNF is not reported as a risk factor of cholelithiasis, which is also a rare disease in the pediatric population. We herein present the cases of three infants with CNF diagnosed with gallstones among a total of seven children with CNF who were treated between 2010 and 2020 in our hospital.

Case-Diagnosis/Treatment

The gestational ages, birth weights, and ages at CNF diagnosis of cases 1, 2, and 3 were 38, 37, and 38 weeks; 2450, 2374, and 3120 g; and 25, 3, and 31 days of age, respectively. Imaging studies at the time of CNF diagnosis revealed asymptomatic gallstones in each of them. Case 1 patient developed incarcerated choledocholithiasis and presented with vomiting, white stool, and critically prolonged coagulation at 7 months of age. The gallstones disappeared at 3 months of age in case 2, although they remained in cases 1 and 3 at the last observation.

Conclusions

Infants with CNF can develop cholelithiasis and should undergo hepatobiliary ultrasonography at the time of diagnosis. Patients with gallstones should be evaluated for signs of potential gallstone incarceration because of the risk of hemorrhagic complications due to cholestasis with subsequent vitamin K deficiency and treatment with anticoagulation agents.

中文翻译：

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芬兰型先天性肾病综合征婴儿胆石症

背景

由NPHS1突变引起的芬兰型先天性肾病综合征 (CNF)是一种罕见疾病。患有 CNF 的婴儿会出现许多并发症，但肝胆并发症并不常见。CNF 未被报道为胆石症的危险因素，胆石症也是儿科人群中的一种罕见疾病。我们在此介绍了 2010 年至 2020 年间在我院接受治疗的总共 7 名 CNF 儿童中 3 名被诊断患有胆结石的 CNF 婴儿的病例。

病例诊断/治疗

病例1、2、3的孕周、出生体重、CNF诊断年龄分别为38、37、38周；2450、2374 和 3120 克；分别为 25、3 和 31 天。CNF 诊断时的影像学研究显示，每个人都有无症状的胆结石。病例 1 患者出现嵌顿性胆总管结石，并在 7 月龄时出现呕吐、白便和凝血时间延长。在病例 2 中，胆结石在 3 个月大时消失，但在最后一次观察时它们仍然存在于病例 1 和 3 中。

结论

患有 CNF 的婴儿可发生胆石症，应在诊断时进行肝胆超声检查。胆结石患者应评估潜在的胆结石嵌顿体征，因为胆汁淤积和随后的维生素 K 缺乏和抗凝剂治疗存在出血并发症的风险。