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Boletín Médico del Hospital Infantil de México

2008, Number 5

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Bol Med Hosp Infant Mex 2008; 65 (5)

Alport syndrome

Medeiros-Domingo M, Fuentes Y, García-Roca P, Hernández AM, Morán-Barroso VF, Velásquez-Jones L

Language: Spanish
References: 58
Page: 331-340
PDF size: 155.12 Kb.


ABSTRACT

Alport syndrome (AS) is a hereditary disease of basal membranes due to a mutation in type IV collagen. It is characterized by hereditary progressive nephropathy often associated with sensorineural hearing loss, ocular defects and less commonly leiomyomatosis. It accounts for 1-2% of end stage renal disease patients in Europe and approximately 3% of end stage renal disease children in America. There are 3 genetic forms of AS: 1. X-linked, due to mutation in COL4A5 gene, present in 80-85% of patients. 2. Autosomal recessive, due to mutations in both alleles of COL4A3 or COL4A4 located in the 2q35-37 chromosome, present in 15% of families with Alport syndrome. 3. Autosomal dominant, due to a heterozygous mutation in COL4A3 or COL4A4 genes, it is present in 5% of the patients. The disease genetics, biochemistry, clinical presentation, histopathology, diagnosis, prognosis and therapeutic options are reviewed.


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