Background: Glomerular hyperfiltration is an early indicator of obesity-related glomerular disease. However, in adolescents, there are no quantifiable indicators of obesity and glomerular hyperfiltration. This study investigates the association between visceral adipose tissue and glomerular hyperfiltration in adolescents.Methods: This cross-sectional study used data from the National Health and Nutrition Examination Survey (NHANES; 2011–2018), and adolescents aged 12–17.99 were included. Visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT) formed the independent variables while estimated glomerular filtration rate (eGFR) acted as the dependent variable. Their association was assessed using unadjusted and multifactorial multiple linear regression analyses, as well as subgroup and interaction analyses.Results: Multivariate regression analysis revealed that VAT was positively associated with eGFR and glomerular hyperfiltration among adolescents. The incidence of glomerular hyperfiltration increased by 99% in boys and 56% in girls per 100 g of VAT increase. Additionally, VAT and eGFR exhibited a linear relationship in both boys (β = 5.63, p < 0.001) and girls (β = 2.72, p < 0.001).Conclusions: In US adolescents aged 12–17.99, VAT was positively correlated with eGFR and glomerular hyperfiltration.

Objective Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited renal cystic disease involving multiple organs. It is caused by mutations in the PKHD1 gene. Here, we investigate the gene mutations in a family affected by ARPKD. Methods Genomic DNA was extracted from peripheral blood leukocytes obtained from the subjects, by means of targeted gene capture and next generation sequencing technologies for mutation screening, and were confirmed by Sanger sequencing. Results Two heterozygous mutations of PKHD1, c.6890T>C (p.Ile2297Thr) and c.11215C>T (p.Arg3739Trp), located in exons 43 and 62, respectively, were identified in the patient. Furthermore, the father and mother were revealed to be carriers of heterozygous c.6890T>C (p.Ile2297Thr) and c.11215C>T (p.Arg3739Trp) mutations, respectively. Mutation of c.11215C>T (p.Arg3739Trp) has been found in the ARPKD Mutation Database (http://www.humgen.rwth-aachen.de) but mutation of c.6890T>C (p.Ile2297Thr) has not been reported. Conclusions Compound heterozygous PKHD1 mutations were elucidated to be the molecular basis of ARPKD in this patient. The newly identified c.6890T>C (p.Ile2297Thr) mutation in the patient expands the mutation spectrum of the PKHD1 gene. Targeted gene capture and next generation sequencing are suitable for genetic diagnosis of single-gene inherited diseases like ARPKD, in which the pathogenic gene is large.