Alport syndrome epidemiology and demographics
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Epidemiology and Demographics
Alport’s syndrome or hereditary nephritis is considered one of the most common familial nephropathies. Its incidence is 1 in 50,000 – 1/100,000 live births in the United States.[1] Since the original description, male gender has been noted to be associated with worse severity, suggesting maternal transmittance. Onset of symptoms often starts during infancy in X-linked Alport’s syndrome; patients reach ESRD during adolescence.[1] Patients with autosomal recessive Alport’s syndrome sometimes progress less rapidly; although they may still progress to ESRD early, they may reach ESRD during adult life.[1]
Worldwide, Alport’s syndrome is not predominant in a specific race, ethnicity, or within a geographic distribution.[2][3][4] In the USA, however, Western states have a significantly higher rate of Alport’s syndrome and is up to two-fold more common than other regions within the USA.
Although a hereditary disorder, spontaneous mutations comprise approximately 15-20% of new cases of Alport’s syndrome.[5]
References
- ↑ 1.0 1.1 1.2 Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F (2013). "Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy". J Am Soc Nephrol. 24 (3): 364–75. doi:10.1681/ASN.2012020148. PMID 23349312.
- ↑ Gehrs KM, Pollock SC, Zilkha G (1995). "Clinical features and pathogenesis of Alport retinopathy". Retina. 15 (4): 305–11. PMID 8545576.
- ↑ Yoshioka K, Hino S, Takemura T, Maki S, Wieslander J, Takekoshi Y; et al. (1994). "Type IV collagen alpha 5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody". Am J Pathol. 144 (5): 986–96. PMC 1887361. PMID 8178947.
- ↑ Myers JC, Jones TA, Pohjolainen ER, Kadri AS, Goddard AD, Sheer D; et al. (1990). "Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus". Am J Hum Genet. 46 (6): 1024–33. PMC 1683837. PMID 2339699.
- ↑ McCarthy PA, Maino DM (2000). "Alport syndrome: a review". Clin Eye Vis Care. 12 (3–4): 139–150. PMID 11137428.