Introduction:
Methods:
Our comprehensive approach involved extensive evaluations, including abdominal and pelvic ultrasound, chest ultrasound, CRP level measurement, WIDAL, malarial antigen tests, and an in-depth genetic analysis. The genetic analysis aimed at identifying variations associated with the reported phenotypes, ultimately revealing a connection to Alport syndrome rather than the initially suspected renal calculi.
Results:
In the first patient, a Heterozygous Splice site donor variant c.1696+1G>A in Exon 23 of the COL4A4 gene was identified, indicative of Alport syndrome. The second patient exhibited a Hemizygote Splice site acceptor variant c.2042-2A>G in Exon 26 of the COL4A5 gene, with an associated amino acid substitution, confirming the diagnosis of Alport syndrome.
Conclusions:
These findings underscore the importance of genetic exploration in pediatric patients with suspected renal calculi, leading to the accurate diagnosis of Alport syndrome. The identification of specific genetic variants enhances our understanding of the underlying causes and facilitates precise clinical management.
I have no potential conflict of interest to disclose.
I did not use generative AI and AI-assisted technologies in the writing process.