NEPHROTIC SYNDROME IN A CHILD WITH ALPORT SYNDROME: A CASE REPORT AND LITERATURE REVIEW
DOI:
https://doi.org/10.37762/jgmds.13-1.791Keywords:
Alport Syndrome, Collagen Type IV Genes, COL4A5, X-Linked, Sensorineural Hearing Loss, Nephrotic SyndromeAbstract
Alport syndrome is a disorder affecting basement membranes in the glomeruli, cochlea, and eyes due to mutations in collagen IV genes (COL4A3, COL4A4, COL4A5). It exhibits genetic and phenotypic variability and can be inherited via X-linked, autosomal recessive, or autosomal dominant patterns. Those with Alport syndrome face a considerable risk of kidney failure along with potential sensorineural hearing loss and eye abnormalities. Early diagnosis is vital due to the availability of effective interventions for kidney disease related to Alport syndrome. We are presenting case report of patient, 08 years old boy who presented as nephrotic syndrome and ultimately diagnosed as case of chronic kidney disease due to Alport syndrome. Early diagnosis of Alport syndrome can be challenging because of the disorder's genotypic and phenotypic complexity. Regular follow and vigilant monitoring along with clinical examination and workup can lead to exact diagnosis.
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