How is NPHS1-Related Congenital Nephrotic Syndrome Diagnosed?
Diagnosis typically involves a combination of clinical evaluation, laboratory tests, and genetic testing. A urine test will reveal high protein levels, while blood tests may show low levels of albumin and other proteins. Genetic testing can confirm the presence of mutations in the NPHS1 gene. In some cases, a kidney biopsy may be performed to examine the structure of the glomeruli.
