Alport syndrome pathophysiology: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
Alport’s syndrome is characterized by the defect of alpha chains of type IV collagen that constitute a triad of manifestations: renal, auditory, and ocular. Involvement of the glomerular basement membrane is the hallmark of Alport’s syndrome.<ref name="pmid8154501">{{cite journal| author=Bodziak KA, Hammond WS, Molitoris BA| title=Inherited diseases of the glomerular basement membrane. | journal=Am J Kidney Dis | year= 1994 | volume= 23 | issue= 4 | pages= 605-18 | pmid=8154501 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8154501 }} </ref><ref name="pmid8238007">{{cite journal| author=Kashtan CE, Michael AF| title=Alport syndrome: from bedside to genome to bedside. | journal=Am J Kidney Dis | year= 1993 | volume= 22 | issue= 5 | pages= 627-40 | pmid=8238007 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8238007 }} </ref> It is still controversial as to whether the basement membrane becomes thicker or thinner to induce splitting. | Alport’s syndrome is characterized by the defect of alpha chains of type IV collagen that constitute a triad of manifestations: renal, auditory, and ocular. Involvement of the glomerular basement membrane is the hallmark of Alport’s syndrome.<ref name="pmid8154501">{{cite journal| author=Bodziak KA, Hammond WS, Molitoris BA| title=Inherited diseases of the glomerular basement membrane. | journal=Am J Kidney Dis | year= 1994 | volume= 23 | issue= 4 | pages= 605-18 | pmid=8154501 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8154501 }} </ref><ref name="pmid8238007">{{cite journal| author=Kashtan CE, Michael AF| title=Alport syndrome: from bedside to genome to bedside. | journal=Am J Kidney Dis | year= 1993 | volume= 22 | issue= 5 | pages= 627-40 | pmid=8238007 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8238007 }} </ref> It is still controversial as to whether the basement membrane becomes thicker or thinner to induce splitting. | ||
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|+ '''''Molecular and Histopathological Changes in Alport's Syndrome''''' | |||
| bgcolor="#d9ff54"|'''Manifestations''' || bgcolor="#d9ff54"|'''Renal''' || bgcolor="#d9ff54"|'''Auditory'''||bgcolor="#d9ff54"|'''Ocular''' | |||
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| bgcolor="#ececec"|'''Molecular Findings''' || Absence of collagen network of the glomerular basement membrane (GBM) that is normally formed by podocytes and endothelial cells<ref name="pmid19423686">{{cite journal| author=Abrahamson DR, Hudson BG, Stroganova L, Borza DB, St John PL| title=Cellular origins of type IV collagen networks in developing glomeruli. | journal=J Am Soc Nephrol | year= 2009 | volume= 20 | issue= 7 | pages= 1471-9 | pmid=19423686 | doi=10 .1681/ASN.2008101086 | pmc=PMC2709682 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19423686 }} </ref><ref name="pmid9442357">{{cite journal| author=Miner JH| title=Developmental biology of glomerular basement membrane components. | journal=Curr Opin Nephrol Hypertens | year= 1998 | volume= 7 | issue= 1 | pages= 13-9 | pmid=9442357 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9442357 }} </ref><ref name="pmid11532098">{{cite journal| author=St John PL, Abrahamson DR| title=Glomerular endothelial cells and podocytes jointly synthesize laminin-1 and -11 chains. | journal=Kidney Int | year= 2001 | volume= 60 | issue= 3 | pages= 1037-46 | pmid=11532098 | doi=10.1046/j.1523-1755.2001.0600031037.x | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11532098 }} </ref>||Cellular loss, including hair cells of Corti, and edema associated with atrophy of tissue<ref name="pmid8414153">{{cite journal| author=Chugh KS, Sakhuja V, Agarwal A, Jha V, Joshi K, Datta BN et al.| title=Hereditary nephritis (Alport's syndrome)--clinical profile and inheritance in 28 kindreds. | journal=Nephrol Dial Transplant | year= 1993 | volume= 8 | issue= 8 | pages= 690-5 | pmid=8414153 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8414153 }} </ref><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><ref name="pmid1425373">{{cite journal| author=Andreoli SP, Deaton M| title=Alport's syndrome. | journal=Ear Nose Throat J | year= 1992 | volume= 71 | issue= 10 | pages= 508-11 | pmid=1425373 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1425373 }} </ref><ref name="pmid2771325">{{cite journal| author=Grondalski SJ, Bennett GR| title=Alport's syndrome: review and case report. | journal=Optom Vis Sci | year= 1989 | volume= 66 | issue= 6 | pages= 396-8 | pmid=2771325 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2771325 }} </ref>||Cellular loss and mitochondrial edema. Honeycombing of broken abnormal filaments that are surrounded by vacuolated spheres and membranes<ref name="pmid3689194">{{cite journal| author=Streeten BW, Robinson MR, Wallace R, Jones DB| title=Lens capsule abnormalities in Alport's syndrome. | journal=Arch Ophthalmol | year= 1987 | volume= 105 | issue= 12 | pages= 1693-7 | pmid=3689194 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3689194 }} </ref><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> | |||
|- | |||
| bgcolor="#ececec"|'''Histopathological Changes''' || Lamellated GBM and splitting with appearance of false layers of the basement membrane leading to focal sclerosis of glomeruli<ref name="pmid8414153">{{cite journal| author=Chugh KS, Sakhuja V, Agarwal A, Jha V, Joshi K, Datta BN et al.| title=Hereditary nephritis (Alport's syndrome)--clinical profile and inheritance in 28 kindreds. | journal=Nephrol Dial Transplant | year= 1993 | volume= 8 | issue= 8 | pages= 690-5 | pmid=8414153 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8414153 }} </ref><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><ref name="pmid1425373">{{cite journal| author=Andreoli SP, Deaton M| title=Alport's syndrome. | journal=Ear Nose Throat J | year= 1992 | volume= 71 | issue= 10 | pages= 508-11 | pmid=1425373 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1425373 }} </ref><ref name="pmid8154501">{{cite journal| author=Bodziak KA, Hammond WS, Molitoris BA| title=Inherited diseases of the glomerular basement membrane. | journal=Am J Kidney Dis | year= 1994 | volume= 23 | issue= 4 | pages= 605-18 | pmid=8154501 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8154501 }} </ref>||Basement changes of the stria vascularis of the cochlea||Pathological changes involving the lens capsule, the largest basement membrane in the eye<ref name="pmid3689194">{{cite journal| author=Streeten BW, Robinson MR, Wallace R, Jones DB| title=Lens capsule abnormalities in Alport's syndrome. | journal=Arch Ophthalmol | year= 1987 | volume= 105 | issue= 12 | pages= 1693-7 | pmid=3689194 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3689194 }} </ref><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> | |||
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==References== | ==References== | ||
Revision as of 16:38, 31 October 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
Alport’s syndrome is characterized by the defect of alpha chains of type IV collagen that constitute a triad of manifestations: renal, auditory, and ocular. Involvement of the glomerular basement membrane is the hallmark of Alport’s syndrome.[1][2] It is still controversial as to whether the basement membrane becomes thicker or thinner to induce splitting.
| Manifestations | Renal | Auditory | Ocular |
| Molecular Findings | Absence of collagen network of the glomerular basement membrane (GBM) that is normally formed by podocytes and endothelial cells[3][4][5] | Cellular loss, including hair cells of Corti, and edema associated with atrophy of tissue[6][7][8][9] | Cellular loss and mitochondrial edema. Honeycombing of broken abnormal filaments that are surrounded by vacuolated spheres and membranes[10][7] |
| Histopathological Changes | Lamellated GBM and splitting with appearance of false layers of the basement membrane leading to focal sclerosis of glomeruli[6][7][8][1] | Basement changes of the stria vascularis of the cochlea | Pathological changes involving the lens capsule, the largest basement membrane in the eye[10][7] |
References
- ↑ Jump up to: 1.0 1.1 Bodziak KA, Hammond WS, Molitoris BA (1994). "Inherited diseases of the glomerular basement membrane". Am J Kidney Dis. 23 (4): 605–18. PMID 8154501.
- ↑ Kashtan CE, Michael AF (1993). "Alport syndrome: from bedside to genome to bedside". Am J Kidney Dis. 22 (5): 627–40. PMID 8238007.
- ↑ Abrahamson DR, Hudson BG, Stroganova L, Borza DB, St John PL (2009). "Cellular origins of type IV collagen networks in developing glomeruli". J Am Soc Nephrol. 20 (7): 1471–9. doi:10 .1681/ASN.2008101086 Check
|doi=value (help). PMC 2709682. PMID 19423686. - ↑ Miner JH (1998). "Developmental biology of glomerular basement membrane components". Curr Opin Nephrol Hypertens. 7 (1): 13–9. PMID 9442357.
- ↑ St John PL, Abrahamson DR (2001). "Glomerular endothelial cells and podocytes jointly synthesize laminin-1 and -11 chains". Kidney Int. 60 (3): 1037–46. doi:10.1046/j.1523-1755.2001.0600031037.x. PMID 11532098.
- ↑ Jump up to: 6.0 6.1 Chugh KS, Sakhuja V, Agarwal A, Jha V, Joshi K, Datta BN; et al. (1993). "Hereditary nephritis (Alport's syndrome)--clinical profile and inheritance in 28 kindreds". Nephrol Dial Transplant. 8 (8): 690–5. PMID 8414153.
- ↑ Jump up to: 7.0 7.1 7.2 7.3 McCarthy PA, Maino DM (2000). "Alport syndrome: a review". Clin Eye Vis Care. 12 (3–4): 139–150. PMID 11137428.
- ↑ Jump up to: 8.0 8.1 Andreoli SP, Deaton M (1992). "Alport's syndrome". Ear Nose Throat J. 71 (10): 508–11. PMID 1425373.
- ↑ Grondalski SJ, Bennett GR (1989). "Alport's syndrome: review and case report". Optom Vis Sci. 66 (6): 396–8. PMID 2771325.
- ↑ Jump up to: 10.0 10.1 Streeten BW, Robinson MR, Wallace R, Jones DB (1987). "Lens capsule abnormalities in Alport's syndrome". Arch Ophthalmol. 105 (12): 1693–7. PMID 3689194.