A Case of X-Linked Dominant Inherited Alport Syndrome Resulting from a Novel Mutation in COL4A5

Ma L1,2*, Huang L1,2, Li L1,2, Wu D1,2 and Luo J1,2

1Department of Pediatric Nephrology, Lanzhou University Second Hospital, China
2Department of Nephrology, Gansu Children’s Hospital, China

^*Correspondance to: Lina Ma 

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Abstract:

Alport Syndrome (AS) is a hereditary disease caused by mutations in type IV collagen genes, especially COL4A3, COL4A4, and COL4A5 that affect the renal glomerular basement membrane. This causes nephritis with hematuria, proteinuria, and progressive renal damage, as well as highfrequency deafness and visual impairment. The prevalence of AS is approximately 1 in 5000, and it leads to End-Stage Renal Disease (ESRD) in about 0.5% of adults and 12.9% of children. Despite the identification of associated receptors and pathways, the pathophysiology of AS is poorly understood. There is no specific treatment, although inhibitors of the renin-angiotensinaldosterone system are often used. Recent progress in molecular biological techniques including next-generation sequencing have facilitated the diagnosis of AS and can assist in the elucidation of the underlying pathophysiological mechanisms. Early diagnosis and therapy of AS is important, especially in children. Here, we report an AS case resulting from a mutation in COL4A5. The patient was a two-year-old Chinese boy. Clinical examination showed occult blood and protein in the urine, the red blood cell count was 573/μl, and there was impaired urinary function while hearing appeared normal. Imaging examinations showed no obvious abnormalities. A renal biopsy was performed and AS was strongly suspected. Genetic testing showed a hemizygous mutation in COL4A5, c.4003-2 a>T, chromosome location: chrX: 107924113 and the patient were diagnosed with X-linked AS. He was prescribed a low-sodium diet with oral chlorine sand treatment, and after three months, the urine red blood cell count showed a clear improvement. This study reports a case of X-linked AS caused a mutation in the COL4A5 gene. The findings demonstrate the pathogenic role of this mutation in AS and provide insight into the pathological mechanism of this disease.

Keywords:

Alport syndrome; Hereditary kidney disease; Collagen; COL4A5 gene; Mutation; X-linked (XLAS) inheritance

Cite the Article:

Ma L, Huang L, Li L, Wu D, Luo J. A Case of X-Linked Dominant Inherited Alport Syndrome Resulting from a Novel Mutation in COL4A5. Ann Clin Case Rep. 2023; 8: 2485.