Tips of family history taking in diagnosing Alport syndrome: a report of six cases.

Alport syndrome (AS) is a hereditary kidney disease characterized by progressive renal dysfunction, sensorineural hearing loss, and ocular abnormalities. This report describes six AS cases diagnosed by a single physician, focusing on diagnostic processes and genetic findings. Detailed family history was crucial in all six cases for raising AS suspicion, even when clinical and histological findings were inconclusive. If urinalysis shows abnormalities, nephritis should be considered first. In addition, hereditary kidney disease should be included among the differential diagnoses. Suspecting hereditary kidney disease is the first step, and obtaining thorough family history is essential, not only at the initial consultation, but also during follow-up. When renal biopsy (RB) results or clinical findings suggest hereditary kidney disease, or if family members with kidney disease are identified, the possibility of AS should be re-evaluated. Pedigree creation can help identify additional affected relatives, and genetic testing should be pursued when hereditary kidney disease is strongly suspected. Confirmed AS diagnosis through genetic testing facilitates appropriate management, including renin-angiotensin system (RAS) inhibitors use, while avoiding unnecessary immunosuppressive therapy. These measures may improve patient outcomes and long-term prognosis.