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.<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> 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== |
Latest revision as of 16:06, 31 October 2013
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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.