Introduction:
Alport's syndrome (AS) is a genetic condition that encompasses the clinical triad of ocular abnormalities, sensorineural deafness, and hereditary nephritis usually occurring in the second to fourth decade of life. Persistent microscopic hematuria with proteinuria typically in the sub nephrotic range with advancing renal insufficiency is the most common renal symptom. Here we report a case with unusual presenting clinical features
Methods:
A 19-year old female, without any past medical illness, ocular and hearing abnormalities and family history of renal disease, presented with only hypertension at the outpatient department. Here urinary investigations revealed only proteinuria which was in sub nephrotic range. Her abdominal sonogram showed bilateral normal sized kidneys with evidence of medico-renal disease and altered corticomedullary differentiation. Her ocular and audiometry tests were normal and for further evaluation of her renal disease, renal biopsy and genetic testing was conducted
Results:
A diagnosis of secondary Focal Segmental Glomerulosclerosis (FSGS) was given on renal biopsy and genetic testing unveiled COL4A5 mutation with c.337G>A variant which for the clinical significance of genetic variants, is a variant of “undetermined significance”.
Conclusions:
Though alport’s syndrome usually presents with asymptomatic hematuria, proteinuria, ocular abnormalities and sensorineural deafness, our patient was a young female with only sub nephrotic range proteinuria and was diagnosed with alport’s syndrome based on renal pathology and genetic testing.
I have no potential conflict of interest to disclose.
I did not use generative AI and AI-assisted technologies in the writing process.