Cholelithiasis in infants with congenital nephrotic syndrome of the Finnish type

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.