Alport syndrome epidemiology and demographics: Difference between revisions
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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. 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.<ref name="pmid23349312">{{cite journal| author=Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F| title=Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. | journal=J Am Soc Nephrol | year= 2013 | volume= 24 | issue= 3 | pages= 364-75 | pmid=23349312 | doi=10.1681/ASN.2012020148 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23349312 }} </ref> 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.<ref name="pmid23349312">{{cite journal| author=Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F| title=Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. | journal=J Am Soc Nephrol | year= 2013 | volume= 24 | issue= 3 | pages= 364-75 | pmid=23349312 | doi=10.1681/ASN.2012020148 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23349312 }} </ref> | |||
Worldwide, Alport’s syndrome is not predominant in a specific race, ethnicity, or within a geographic distribution.<ref name="pmid8545576">{{cite journal| author=Gehrs KM, Pollock SC, Zilkha G| title=Clinical features and pathogenesis of Alport retinopathy. | journal=Retina | year= 1995 | volume= 15 | issue= 4 | pages= 305-11 | pmid=8545576 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8545576 }} </ref><ref name="pmid8178947">{{cite journal| author=Yoshioka K, Hino S, Takemura T, Maki S, Wieslander J, Takekoshi Y et al.| title=Type IV collagen alpha 5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. | journal=Am J Pathol | year= 1994 | volume= 144 | issue= 5 | pages= 986-96 | pmid=8178947 | doi= | pmc=PMC1887361 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8178947 }} </ref><ref name="pmid2339699">{{cite journal| author=Myers JC, Jones TA, Pohjolainen ER, Kadri AS, Goddard AD, Sheer D et al.| title=Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus. | journal=Am J Hum Genet | year= 1990 | volume= 46 | issue= 6 | pages= 1024-33 | pmid=2339699 | doi= | pmc=PMC1683837 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2339699 }} </ref> 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.<ref name="pmid11137428">{{cite journal| author=McCarthy PA, Maino DM| title=Alport syndrome: a review. | journal=Clin Eye Vis Care | year= 2000 | volume= 12 | issue= 3-4 | pages= 139-150 | pmid=11137428 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11137428 }} </ref> | |||
==References== | ==References== |
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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. 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 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.