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CASE REPORT
Year : 2019  |  Volume : 6  |  Issue : 2  |  Page : 13-16

X-linked alport syndrome presenting as bilateral lenticonus and end-stage renal disease


1 Department of Pediatrics, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India
2 Department of Pediatrics, SGRR Institute of Medical Sciences, Dehradun, Uttarakhand, India
3 Department of Renal Pathology, Dr Lal PathLabs Limited, New Delhi, India
4 Department of Community Medicine, RML Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

Correspondence Address:
Dr. Mritunjay Kumar
Department of Pediatrics, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jina.jina_19_18

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Alport syndrome (AS) is a type of inherited nephropathy characterized by hematuria, proteinuria, and progressive renal failure; often associated with extrarenal manifestations such as sensorineural deafness and anterior lenticonus. X-linked AS causes end-stage kidney disease in young male patients, sometimes without prominent clinical manifestation beforehand due to its heterogeneous phenotype. Here, we report a case of AS where ignorance of visual and auditory symptoms led to progression to end-stage renal disease.


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