Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis
Carlotta Hellmann,
Kai Wohlgemuth,
Petra Pennekamp
et al.
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 NPHP… Show more
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