Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis.

ABSTRACT:

Background

Nephronophthisis (NPH) comprises a heterogeneous group of inherited renal ciliopathies clinically characterized by progressive kidney failure. So far, definite diagnosis is based on molecular testing only. Here, we studied the feasibility of NPHP1 and NPHP4 immunostaining of nasal epithelial cells to secure and accelerate the diagnosis of NPH.

Methods

Samples of 86 individuals with genetically determined renal ciliopathies were analyzed for NPHP1 localization using immunofluorescence microscopy (IF). A sub-cohort of 35 individuals was also analyzed for NPHP4 localization. Western blotting was performed to confirm IF results.

Results

NPHP1 and NPHP4 were both absent in all individuals with disease-causing NPHP1 variants including one with a homozygous missen

SUBMITTER: Hellmann C 

PROVIDER: S-EPMC11511759 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature