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Objective: To present a case of Alport syndrome, its pathogenesis, etiology, clinical manifestation, diagnosis, and management. Methods: This is a case report. Results: A 22-year-old male presented with blurring of vision associated with bilateral anterior and posterior lenticonus. The patient had a history of blurring of vision on both eyes, occasional right lower-quadrant pain on urination, frothy urine, and bilateral hearing loss. Family medical history showed one brother who died at 15 years of heart disease, and another brother at 17 from chronic kidney disease. Slitlamp examination showed a conspicuous oil droplet reflex seen through retroillumination. Anterior and posterior bulging of the lens was noted, highly suggestive of anterior and posterior lenticonus. On indirect ophthalmoscopy, no perimacular dot-and-fleck retinopathy was seen. Further systemic workup revealed elevated serum levels of blood urea nitrogen (BUN) and creatinine, and marked proteinuria and hematuria. Ultrasound of the kidneys revealed bilateral renal parenchymal disease. Pure tone audiometry confirmed bilateral moderate sensorineural hearing loss. Conclusions There should be a high index of suspicion for Alport syndrome in any patient presenting with anterior and posterior lenticonus. A thorough history-taking and physical examination, including slitlamp examination through a dilated pupil, are necessary to fully support its diagnosis. There is no specifically defined treatment for Alport’s syndrome; management should be individualized and approached in a multidisciplinary fashion. Lenticonus can be treated by phacoemulsification with careful capsulorrhexis.
Nephritis, Hereditary

10.Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism.

Lijuan ZHONG ; Yin LI ; Xiaohong HE ; Subrata Kumar DEY ; Quanfu ZHANG ; Santasree BANERJEE

Chinese Medical Journal 2023;136(21):2635-2637

1.A Case of Alport's Syndrome.

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3.Alport's syndrome: A case report.

4.Alport syndrome

5.Two cases of Alport syndrome developed in sister.

6.Advances in the treatment of Alport syndrome.

7.Genetic diagnosis of Alport syndrome

8.A case of autosomal recessive Alport syndrome with nephrotic syndrome as initial symptom.

9.Research progress in diagnosis, treatment and management of Alport syndrome.

10.Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism.

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