This case report describes a four-year-old girl who was evaluated for kidney problems at a local hospital and a referral center. Her mother had microscopic blood in the urine, and her maternal grandmother had end-stage kidney disease. Doctors performed a renal biopsy and genetic testing to find the cause of her symptoms.
The tests confirmed a diagnosis of X-linked Alport syndrome. Electron microscopy showed focal thinning of the kidney filters, and genetic testing detected a specific variant in the COL4A5 gene. This finding explained the family history of kidney failure seen in the grandmother.
No safety concerns were reported for the procedures or treatments involved in this single case. Because this report involves only one patient, the results cannot be applied to everyone. Early testing in children with a positive family history can lead to a faster diagnosis, but more research is needed to confirm these benefits.