[Unexpected phenotypes in Alport syndrome: the need for genetic testing]

Area of Science:

• Pediatric Nephrology
• Clinical Genetics
• Rare Diseases

Background:

• Alport syndrome diagnosis in children presents challenges due to atypical clinical presentations and limited use of electron microscopy in infancy.
• The rarity of Alport syndrome and the infrequent performance of renal biopsies further complicate early identification in pediatric patients.

Observation:

• Six pediatric patients (4 female) diagnosed with Alport syndrome between 2018-2021 exhibited diverse clinical onsets.
• None of the patients presented with typical auditory or ophthalmological complications associated with Alport syndrome.
• A significant proportion (50%) lacked a family history of chronic kidney disease, and renal biopsies did not confirm the diagnosis in any case.

Findings:

• All six pediatric patients were genetically confirmed to have Alport syndrome.
• These patients represented the initial cases identified within their respective family genetic studies.
• The study highlights that Alport syndrome can manifest with unexpected clinical phenotypes in children.

Implications:

• The findings underscore the necessity of integrating genetic studies into the diagnostic approach for pediatric Alport syndrome.
• Early and accurate diagnosis through genetic analysis can facilitate timely management and genetic counseling.
• Recognizing atypical presentations is vital for improving the detection rates of Alport syndrome in pediatric populations.