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Diffusion tensor imaging of the kidney in healthy controls and in children and young adults with autosomal recessive polycystic kidney disease.

ABSTRACT: OBJECTIVE:To compare diffusion tensor imaging (DTI) of the kidneys and its derived parameters in children with autosomal recessive polycystic kidney disease (ARPKD) versus healthy controls. METHODS:In a prospective IRB-approved study, we evaluated the use of DTI to compare kidney parenchyma FA values in healthy controls (age-matched children with no history of renal disease) versus patients with ARPKD. A 20-direction DTI with b-values of b?=?0 s/mm2 and b?=?400 s/mm2 was used to acquire data in coronal direction using a fat-suppressed spin-echo echo-planar sequence. Diffusion Toolkit and TrackVis were used for analysis and segmentation. TrackVis was used to draw regions of interest (ROIs) covering the entire volume of the renal parenchyma, excluding the collecting system. Fibers were reconstructed using a deterministic fiber tracking algorithm. The FA values based on the ROI data, mean length, and volume of the tracks based on the fiber tracking data were recorded. RESULTS:Eight healthy controls (mean age?=?12.9 years?±?4.0; 1/8 males) and six ARPKD participants (mean age?=?13.8 years?±?8.5; 5/6 males) were included in the study. Compared to healthy controls, patients with ARPKD had significantly lower FA values (0.33?±?0.03 vs. 0.25?±?0.02, p?=?0.002) and mean track length (16.73?±?3.43 vs. 11.61?±?1.29 mm, p?=?0.005). CONCLUSION:DTI of the kidneys shows significantly lower FA values and mean track length in children and young adults with ARPKD compared to normal subjects. DTI of the kidney offers a novel approach for characterizing renal disease based on changes in diffusion anisotropy and kidney structure.

SUBMITTER: Serai SD

PROVIDER: S-EPMC6511460 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Diffusion tensor imaging of the kidney in healthy controls and in children and young adults with autosomal recessive polycystic kidney disease.

Serai Suraj D SD Otero Hansel J HJ Calle-Toro Juan S JS Berman Jeffrey I JI Darge Kassa K Hartung Erum A EA

Abdominal radiology (New York) 20190501 5

<h4>Objective</h4>To compare diffusion tensor imaging (DTI) of the kidneys and its derived parameters in children with autosomal recessive polycystic kidney disease (ARPKD) versus healthy controls.<h4>Methods</h4>In a prospective IRB-approved study, we evaluated the use of DTI to compare kidney parenchyma FA values in healthy controls (age-matched children with no history of renal disease) versus patients with ARPKD. A 20-direction DTI with b-values of b = 0 s/mm<sup>2</sup> and b = 400 s/mm<sup ...[more]

PMID: 30783727

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Project description:Background and objectivesAutosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The longest open reading frame comprises 66 exons encoding polyductin or fibrocystin, a type I transmembrane protein with 4074 amino acids. Functional investigations are considerably hampered by its large size and lack of expression in tissues that are usually available for analysis such as lymphocytes or fibroblasts.Design, setting, participants, & measurementsAllegedly strong and clear-cut genotype-phenotype correlations for the type of PKHD1 mutation could be established. Thus far, practically all patients with two truncating mutations showed perinatal or neonatal demise and at least one hypomorphic missense mutation is thought to be indispensable for survival. Mutation analysis of >500 ARPKD families was performed by conventional and next-generation sequencing techniques.ResultsThis study presents four unrelated patients with ARPKD with a nonlethal, moderate clinical course despite the burden of two PKHD1 mutations expected to lead to premature termination of translation. In line with parental consanguinity, all mutations occurred in the homozygous state and segregated with the disorder in these families. To try to unravel the mechanisms that underlie this obvious contradiction, these patients were further analyzed in detail by utilizing different methods. In all cases, complex transcriptional alterations were detected. Alternative splicing patterns might disrupt a critical stoichiometric and temporal balance between different protein products and may play a crucial role in defining the phenotype of these patients.ConclusionsAlthough these findings represent rare events, they are of importance for genetic counseling and illustrate that some caution is warranted in the interpretation of mutations and their clinical significance. The authors hypothesize that expression of a minimal amount of functional protein is needed for survival of the neonatal period in ARPKD.

Dataset Information

Diffusion tensor imaging of the kidney in healthy controls and in children and young adults with autosomal recessive polycystic kidney disease.

Publications

Diffusion tensor imaging of the kidney in healthy controls and in children and young adults with autosomal recessive polycystic kidney disease.

Similar Datasets

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