53:
308:. It is also found in other locations, including the alveoli of the lungs. Basement membranes are thin, sheet-like structures that separate and support cells in many tissues. Type IV collagen '112' type is found in both vertebrates and invertebrates and is the major isoform in most human basement membranes. When mutations prevent the formation of 345 type IV collagen network in the glomerulus, the 112 network, which is formed in fetal development but usually replaced by 345, persists into adult life.
29:
1611:
401:
characteristic sequence of changes from thinning of the glomerular basement membrane (GBM), developing into areas of thinning and thickening, and finally into a complex appearance with apparent splitting, often described as a 'basketweave' appearance. Early or very localised changes on this spectrum are not diagnostic, but the later changes are considered diagnostic.
508:
Studies of the life expectancy of patients with Alport syndrome are rare, but one 2012 study found that Alport patients receiving renal replacement therapy (dialysis or kidney transplantation) exhibited, on average, better survival compared with matched controls who had other kidney diseases (and who
428:
A family history of end-stage renal disease with hearing impairment is suggestive of Alport syndrome, but other conditions can cause this combination of abnormalities. Most can be distinguished by clinical features. The finding of haematuria in relatives is suggestive. While X-linked inheritance is
221:
Diffuse leiomyomatosis of the oesophagus and tracheobronchial tree has been reported in some families with Alport syndrome. Symptoms usually appear in late childhood and include dysphagia, postprandial vomiting, substernal or epigastric pain, recurrent bronchitis, dyspnea, cough, and stridor.
400:
To be helpful, kidney biopsies need to be taken before the disease is too advanced. Changes on conventional (light) microscopy are not characteristic, and the possibility of other diagnoses, particularly focal segmental glomerulosclerosis (FSGS), may be raised. Electron microscopy shows a
111:
These descriptions refer to 'classic' Alport syndrome, which usually causes significant disease from young adult or late childhood life. Some individuals, usually with milder mutations or 'carrier' status, develop disease later, or show only some of the features of classic disease.
156:
Alport syndrome can also cause hearing loss although some patients are not affected. Hearing in Alport syndrome patients is normal at birth. Hearing loss in affected patients develops progressively, usually at the stage when kidney function is normal, but there is substantial
99:—a structural material that is needed for the normal function of different parts of the body. Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly unrelated parts of the body (ears, eyes, kidneys, etc.).
102:
Depending on where the mutation is located in the genome, Alport syndrome can present itself in many forms. This includes X-linked Alport syndrome (XLAS), autosomal recessive Alport syndrome (ARAS), and autosomal dominant Alport syndrome (ADAS).
193:
and mid-periphery. These rarely threaten vision. Lenticonus (cone-shaped lens) can be treated by replacement of the lens, as for cataracts. Mild keratoconus can be managed with hard, scleral, piggy-back or other specialty medical
404:
Immunohistochemistry or immunofluorescence studies to identify the COL3-4-5 proteins in GBM can be helpful. However, these studies may be normal in some patients with Alport syndrome, especially milder variants.
466:
can slow the deterioration of kidney function in Alport syndrome, delaying the need for dialysis or transplantation. The development of proteinuria has been recommended as an indication for commencing treatment.
1674:
1659:
610:
1615:
165:. This becomes more severe and affects lower frequencies too. Hearing loss is not usually complete in Alport syndrome; good communication is almost always possible with the use of hearing aids.
336:
gene is sufficient to cause severe Alport syndrome, explaining why most affected males eventually develop kidney failure. In females, who have two X chromosomes, a mutation in one copy of the
73:, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life.
841:"Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product"
2371:
1128:"X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study"
500:
It is not known whether ACE inhibitors or other treatments affect hearing loss. For those with classic Alport syndrome, hearing aids are often required in teenage or young adult years.
161:. However, in some patients, hearing loss is only noted after kidney function has been lost. Characteristically the early changes are reduced ability to hear high-frequency sounds,
1338:
Zhang KW, Colville D, Tan R, Jones C, Alexander SI, Fletcher J, Savige J (August 2008). "The use of ocular abnormalities to diagnose X-linked Alport syndrome in children".
909:
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".
478:. Transplantation can rarely be associated with the formation of antibodies to type IV collagen in the donor kidney resulting in progressive graft failure as a result of
2364:
359:, have been mutated. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.
1427:
2357:
2910:
1945:
1834:
1193:
2966:
2830:
203:
2866:
2677:
366:
form are now usually categorized as other conditions. Notably, conditions associated with giant platelets and associated with mutations of
372:
are no longer considered to be Alport variants. However apparent autosomal dominant transmission of disease associated with mutations in
237:, tumours of smooth muscle affecting the oesophagus and female genital tract, may occur in a rare overlap syndrome involving the adjacent
2281:
2105:
2095:
1626:
1398:
3313:
2726:
437:
Genetic testing plays an increasingly important role in confirming the diagnosis where the clinical features do not amount to proof.
1573:"Cyclosporine a slows the progressive renal disease of alport syndrome (X-linked hereditary nephritis): results from a canine model"
3293:
2181:
128:
may occur. Protein begins to appear in urine as the disease progresses. This is now regarded as an indication for treatment with
3021:
582:
3173:
3055:
2324:
1940:
292:(type IV) collagen biosynthesis. Mutations in any of these genes prevent the proper production or assembly of the specialised
3092:
2835:
2811:
2221:
2065:
429:
the most common pattern, genetic testing is revealing that atypical presentations may be more common than currently thought.
3298:
3168:
2746:
2302:
615:
3011:
2186:
2165:
1827:
1689:
2801:
554:
3045:
2871:
2090:
523:
3087:
3016:
2951:
2670:
1435:
2797:
2286:
492:
in the glomerulus that normally produce the type IV collagen in the glomerular basement membrane is challenging.
3178:
408:
The skin contains type IV collagen in a '556' network. Skin biopsies have been used to show the absence of the
3303:
3120:
2700:
1820:
534:
2981:
2349:
3202:
2716:
2449:
2143:
946:"Phenotypic Spectrum of the Foveal Configuration and Foveal Avascular Zone in Patients With Alport Syndrome"
445:
The use of eye examinations for screening has been proposed. Other tests may include a urine or blood test.
2721:
814:
3258:
3183:
3077:
2731:
2663:
1812:
316:
Alport syndrome can have different inheritance patterns depending on which specific mutation is present.
3253:
2840:
2029:
1980:
1889:
1793:
137:
222:
Leiomyomatosis is confirmed by computed tomography (CT) scanning or magnetic resonance imaging (MRI).
198:; progressive cases may be halted with corneal collagen cross linking; and severe cases may require a
92:, but this is misleading as there are many other causes of hereditary kidney disease and 'nephritis'.
3288:
3213:
3073:
2956:
2736:
2585:
2439:
2339:
2312:
1991:
392:
The diagnosis can usually be made on a combination of clinical, family history, and biopsy criteria.
186:
340:
gene usually results in blood in the urine, but most affected females do not develop kidney failure.
52:
3283:
3248:
2915:
2580:
1709:
3308:
3218:
3142:
2932:
2861:
2640:
2544:
2454:
1878:
1126:
Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, et al. (October 2003).
328:
gene. A condition is considered X-linked if the gene involved in the disorder is located on the
3233:
3082:
3040:
2990:
2942:
2884:
2193:
1960:
1919:
1225:"Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene"
1192:
Kharrat M, Makni S, Makni K, Kammoun K, Charfeddine K, Azaeiz H, et al. (September 2006).
475:
459:
412:
gene product, but these techniques are not straightforward, only apply to patients with severe
162:
145:
1749:
785:
3065:
2897:
2433:
2425:
2853:
2779:
2751:
2605:
2478:
1406:
993:
755:
479:
356:
210:
1783:
Collagen IV-Related
Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy)
1381:
8:
3050:
2761:
2380:
2121:
1678:
1571:
Chen D, Jefferson B, Harvey SJ, Zheng K, Gartley CJ, Jacobs RM, Thorner PS (March 2003).
1005:
344:
120:
Blood in urine is a usual feature of Alport syndrome from early infancy, identifiable on
1522:
Temme J, Kramer A, Jager KJ, Lange K, Peters F, MĂĽller GA, et al. (December 2012).
1052:
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, et al. (February 2019).
3223:
2923:
2821:
2243:
1914:
1683:
1589:
1572:
1548:
1523:
1363:
1290:
1265:
1144:
1127:
1078:
1053:
970:
945:
880:
Watson, Simon; Padala, Sandeep A.; Hashmi, Muhammad F.; Bush, Jeffrey S. (2023-08-14).
857:
840:
731:
718:
698:
674:
657:
656:
Lagona E, Tsartsali L, Kostaridou S, Skiathitou A, Georgaki E, Sotsiou F (April 2008).
363:
199:
70:
590:
296:'345' network which is an important structural component of basement membranes in the
3115:
2806:
2789:
2552:
2523:
2490:
2259:
1935:
1930:
1720:
1594:
1553:
1524:"Outcomes of male patients with Alport syndrome undergoing renal replacement therapy"
1497:
1479:
1355:
1313:
1295:
1246:
1241:
1224:
1223:
Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, et al. (May 2004).
1205:
1149:
1101:
1083:
1031:
975:
926:
885:
862:
736:
679:
529:
289:
230:
41:
1620:
1367:
3228:
3102:
2473:
2463:
2415:
2383:
2210:
2054:
1956:
1905:
1860:
1584:
1543:
1535:
1469:
1347:
1285:
1277:
1236:
1139:
1073:
1065:
965:
957:
918:
852:
726:
710:
669:
293:
254:
121:
96:
66:
46:
1760:
944:
Hess K, Pfau M, Wintergerst MW, Loeffler KU, Holz FG, Herrmann P (February 2020).
320:
In most people with Alport syndrome (about 85%), the condition is inherited in an
132:. Progressive loss of kidney function (reflected clinically by increases in serum
3163:
2986:
2902:
2708:
2635:
2444:
2420:
1714:
1054:"A review of clinical characteristics and genetic backgrounds in Alport syndrome"
471:
417:
141:
85:
881:
3243:
3158:
3031:
2996:
2928:
2513:
2410:
2402:
2387:
2379:
2307:
1771:
195:
1807:
1782:
1668:
1351:
1069:
1023:
3277:
3238:
3001:
2961:
2889:
2876:
2774:
2769:
2741:
2483:
2468:
2100:
1852:
1725:
631:
463:
129:
2848:
2630:
1598:
1557:
1359:
1299:
1250:
1209:
1153:
1087:
1035:
979:
889:
740:
714:
683:
558:
485:
329:
1842:
1483:
1281:
930:
922:
866:
2686:
2575:
2045:
1777:
1744:
1539:
178:
158:
78:
1651:
1474:
1457:
1456:
Tryggvason K, Heikkilä P, Pettersson E, Tibell A, Thorner P (May 1997).
1428:"EdRen - Edinburgh Royal Infirmary Renal Unit - Alport anti-GBM disease"
1194:"Autosomal dominant Alport's syndrome: study of a large Tunisian family"
961:
722:
2570:
2518:
1766:
174:
133:
84:
The disorder was first identified in a
British family by the physician
233:
has been described very rarely in patients with early-onset disease.
2655:
1755:
1386:
1010:
305:
234:
125:
74:
28:
1167:
332:. In males, who have only one X chromosome, one altered copy of the
1844:
1788:
655:
489:
321:
266:
182:
1455:
2622:
2562:
2273:
1848:
518:
1703:
1700:
1697:
1694:
2505:
1663:
470:
Once kidney failure has developed, patients usually do well on
297:
284:
278:
270:
190:
1125:
420:
is now a better alternative if kidney biopsy is not possible.
140:) can occur and may require treatment with renal replacement:
69:
affecting around 1 in 5,000–10,000 children, characterized by
3134:
2318:
3130:
2971:
2081:
2020:
2001:
1971:
1869:
1263:
943:
368:
1222:
1026:. In Adam MP, Ardinger HH, Pagon RA, et al. (eds.).
301:
36:
Hearing loss effect of Alport syndrome in 13-year-old boy
1570:
1403:
Renal Unit at the Royal
Infirmary of Edinburgh, Scotland
1264:
Hertz JM, Thomassen M, Storey H, Flinter F (June 2012).
1191:
994:
https://www.columbiaeye.org/content/retinitis-pigmentosa
488:
has been frequently discussed, but delivering it to the
1051:
992:
Columbia
University, Department of Ophthalmology. Link
699:"Hereditary familial congenital haemorrhagic nephritis"
206:
or staircase foveopathy are common in Alport syndrome.
124:. In young children, episodes of visible (macroscopic)
1528:
Clinical
Journal of the American Society of Nephrology
908:
879:
1521:
1337:
1641:
1198:
Saudi
Journal of Kidney Diseases and Transplantation
526:, a disease shown to be a model for Alport syndrome.
453:
95:
Alport syndrome is caused by an inherited defect in
1030:. Seattle (WA): University of Washington, Seattle.
838:
173:Various eye abnormalities are often seen including
658:"Skin biopsy for the diagnosis of Alport syndrome"
1458:"Can Alport syndrome be treated by gene therapy?"
1266:"Clinical utility gene card for: Alport syndrome"
809:
807:
384:Clinical utility gene card for: Alport syndrome.
88:in 1927. Alport syndrome once also had the label
3275:
2877:Danon disease/glycogen storage disease Type IIb
783:
804:
257:affecting around 1 in 5,000-10,000 children.
2982:Color blindness (red and green, but not blue)
2967:Alpha-thalassemia mental retardation syndrome
2671:
2365:
1828:
1577:Journal of the American Society of Nephrology
1132:Journal of the American Society of Nephrology
482:('Alport post-transplant anti-GBM disease').
2867:Glucose-6-phosphate dehydrogenase deficiency
1331:
1257:
1216:
1185:
1047:
1045:
839:Zhou J, Hertz JM, Tryggvason K (June 1992).
395:
343:Alport syndrome can also be inherited in an
2106:Transient bullous dermolysis of the newborn
1160:
649:
462:(CKD) of any cause, there is evidence that
202:. Macular abnormalities such as incomplete
81:is a feature as kidney disease progresses.
2678:
2664:
2372:
2358:
2096:Recessive dystrophic epidermolysis bullosa
1835:
1821:
1808:GeneReview/NIH/UW entry on Alport syndrome
1627:United States National Library of Medicine
1172:Online Mendelian Inheritance in Man (OMIM)
509:also received renal replacement therapy).
416:mutations, and are not widely available.
51:
27:
2727:X-linked severe combined immunodeficiency
1588:
1547:
1473:
1289:
1240:
1143:
1077:
1042:
969:
856:
730:
673:
555:"Diseases of the Kidney: Alport Syndrome"
115:
786:"Alport SyndromeL Clinician information"
577:
575:
3121:X-linked nephrogenic diabetes insipidus
3046:Hypohidrotic ectodermal dysplasia (EDA)
1021:
753:
311:
288:, three of six human genes involved in
253:Alport Syndrome is a relatively common
3276:
3056:X-linked endothelial corneal dystrophy
2699:
2685:
2621:
2543:
1941:Spondyloepiphyseal dysplasia congenita
696:
225:
3201:
3200:
3012:Charcot–Marie–Tooth disease (CMTX2-3)
2836:Ornithine transcarbamylase deficiency
2812:X-linked adrenal hypoplasia congenita
2698:
2659:
2353:
2222:Ullrich congenital muscular dystrophy
2066:Ullrich congenital muscular dystrophy
1816:
1168:"Alport Syndrome, Autosomal Dominant"
911:Nephrology, Dialysis, Transplantation
572:
106:
2747:X-linked lymphoproliferative disease
2717:Chronic granulomatous disease (CYBB)
2303:Congenital stromal corneal dystrophy
1564:
1502:The Lecturio Medical Concept Library
1318:The Lecturio Medical Concept Library
1106:The Lecturio Medical Concept Library
1058:Clinical and Experimental Nephrology
779:
777:
775:
626:
624:
3093:Emery–Dreifuss muscular dystrophy 1
2187:Otospondylomegaepiphyseal dysplasia
2166:Schmid metaphyseal chondrodysplasia
13:
2802:Spinal and bulbar muscular atrophy
1590:10.1097/01.ASN.0000046964.15831.16
1270:European Journal of Human Genetics
1145:10.1097/01.ASN.0000090034.71205.74
845:American Journal of Human Genetics
432:
248:
14:
3325:
2872:Pyruvate dehydrogenase deficiency
2182:Weissenbacher–Zweymüller syndrome
2091:Epidermolysis bullosa dystrophica
1946:Spondyloepimetaphyseal dysplasia,
1637:
1631: (Genetics Home Reference).
772:
621:
524:Samoyed hereditary glomerulopathy
495:
454:Kidney disease and kidney failure
423:
324:pattern, due to mutations in the
216:
189:as well as retinal flecks in the
3314:Diseases named after discoverers
2952:X-linked intellectual disability
2282:Junctional epidermolysis bullosa
1614: This article incorporates
1609:
1242:10.1111/j.1523-1755.2004.00560.x
3294:Syndromes affecting the kidneys
2798:Androgen insensitivity syndrome
2287:Laryngoonychocutaneous syndrome
1515:
1490:
1449:
1420:
1391:
1374:
1306:
1119:
1094:
1015:
998:
986:
937:
902:
873:
832:
209:It may also be associated with
151:
3174:Simpson–Golabi–Behmel syndrome
2384:malformations and deformations
792:. Renal Rare Diseases Registry
784:UK Alport Group (2013-07-25).
747:
690:
604:
547:
535:Thin basement membrane disease
440:
347:pattern if both copies of the
168:
1:
3143:AMELX Amelogenesis imperfecta
3083:Centronuclear myopathy (MTM1)
2780:X-linked sideroblastic anemia
2450:Multicystic dysplastic kidney
2144:Multiple epiphyseal dysplasia
540:
265:Alport syndrome is caused by
3169:Smith–Fineman–Myers syndrome
3017:Pelizaeus–Merzbacher disease
2911:Purine–pyrimidine metabolism
1022:Kashtan CE (February 2019).
616:Dorland's Medical Dictionary
503:
458:In addition to measures for
448:
387:
7:
3299:Syndromes affecting hearing
3259:Craniofrontonasal dysplasia
3184:Nasodigitoacoustic syndrome
2732:X-linked agammaglobulinemia
512:
260:
10:
3330:
3254:Orofaciodigital syndrome 1
3088:Conradi–Hünermann syndrome
2841:Oculocerebrorenal syndrome
1174:. Johns Hopkins University
756:"Types of Alport Syndrome"
636:National Kidney Foundation
583:"What is Alport syndrome?"
138:glomerular filtration rate
136:or decreases in estimated
3214:X-linked hypophosphatemia
3209:
3196:
3151:
3129:
3101:
3074:Becker muscular dystrophy
3064:
3030:
2941:
2820:
2788:
2760:
2737:Hyper-IgM syndrome type 1
2707:
2694:
2614:
2598:
2586:Penoscrotal transposition
2581:Posterior urethral valves
2561:
2536:
2504:
2440:Polycystic kidney disease
2401:
2394:
2335:
2295:
2272:
2252:
2236:
2203:
2174:
2158:
2136:
2114:
2080:
2044:
2019:
2000:
1970:
1904:
1868:
1859:
1735:
1645:
1382:Alport Syndrome~treatment
1352:10.1007/s00467-008-0759-4
1070:10.1007/s10157-018-1629-4
950:Invest Ophthalmol Vis Sci
884:. StatPearls Publishing.
396:Biopsy of kidneys or skin
40:
35:
26:
21:
3179:Mohr–Tranebjærg syndrome
2722:Wiskott–Aldrich syndrome
1006:Alport Syndrome~clinical
697:Alport AC (March 1927).
362:Past descriptions of an
3219:Focal dermal hypoplasia
2933:Occipital horn syndrome
2862:Carbohydrate metabolism
2455:Medullary sponge kidney
1879:Osteogenesis imperfecta
703:British Medical Journal
3234:Incontinentia pigmenti
3041:Dyskeratosis congenita
2885:Lipid storage disorder
2807:KAL1 Kallmann syndrome
2194:Type XI collagenopathy
2030:Ehlers–Danlos syndrome
1981:Ehlers–Danlos syndrome
1961:Type II collagenopathy
1890:Ehlers–Danlos syndrome
1616:public domain material
715:10.1136/bmj.1.3454.504
460:chronic kidney disease
163:sensorineural deafness
116:Chronic kidney disease
3304:Syndromes with tumors
2957:Coffin–Lowry syndrome
2898:Mucopolysaccharidosis
2426:Papillorenal syndrome
2313:Urbach–Wiethe disease
2150:(types 2, 3, & 6)
1992:Sack–Barabas syndrome
1896:(types 1, 2, & 7)
1282:10.1038/ejhg.2011.237
754:Zaunbrecher, Nicole.
3249:Lujan–Fryns syndrome
2916:Lesch–Nyhan syndrome
2854:Adrenoleukodystrophy
2752:Properdin deficiency
2606:Prune belly syndrome
2479:Supernumerary kidney
1540:10.2215/CJN.02190312
1462:Kidney International
1340:Pediatric Nephrology
1229:Kidney International
760:Alport Syndrome News
480:Goodpasture syndrome
312:Inheritance patterns
211:retinitis pigmentosa
90:hereditary nephritis
3051:X-linked ichthyosis
1475:10.1038/ki.1997.205
962:10.1167/iovs.61.2.5
923:10.1093/ndt/8.8.690
345:autosomal recessive
226:Other abnormalities
3224:Fragile X syndrome
3034:and related tissue
2701:X-linked recessive
2244:Bullous pemphigoid
1915:Hypochondrogenesis
1736:External resources
364:autosomal dominant
200:corneal transplant
107:Signs and symptoms
71:glomerulonephritis
3271:
3270:
3267:
3266:
3203:X-linked dominant
3192:
3191:
3152:No primary system
2653:
2652:
2649:
2648:
2594:
2593:
2553:Bladder exstrophy
2532:
2531:
2524:Duplicated ureter
2347:
2346:
2268:
2267:
2260:Knobloch syndrome
2036:(types 1 & 2)
1987:(types 3 & 4)
1936:Marshall syndrome
1931:Stickler syndrome
1803:
1802:
1498:"Alport Syndrome"
1399:"Alport syndrome"
1314:"Alport Syndrome"
1102:"Alport Syndrome"
1024:"Alport Syndrome"
882:"Alport Syndrome"
815:"Alport syndrome"
632:"Alport Syndrome"
611:"Alport syndrome"
530:Fechtner syndrome
476:kidney transplant
355:gene, located on
290:basement membrane
231:Aortic dissection
204:foveal hypoplasia
146:kidney transplant
60:
59:
16:Medical condition
3321:
3289:Collagen disease
3229:Aicardi syndrome
3198:
3197:
2696:
2695:
2680:
2673:
2666:
2657:
2656:
2619:
2618:
2541:
2540:
2474:Nephronophthisis
2464:Horseshoe kidney
2416:Renal hypoplasia
2399:
2398:
2374:
2367:
2360:
2351:
2350:
2340:fibrous proteins
2325:DFNA8/12, DFNB21
2229:
2226:
2218:
2215:
2211:Bethlem myopathy
2191:
2151:
2148:
2129:
2126:
2122:Fuchs' dystrophy
2073:
2070:
2062:
2059:
2055:Bethlem myopathy
2037:
2034:
1988:
1985:
1957:Kniest dysplasia
1952:
1951:(Strudwick type)
1949:
1926:
1923:
1897:
1894:
1886:
1883:
1866:
1865:
1861:Collagen disease
1837:
1830:
1823:
1814:
1813:
1643:
1642:
1630:
1613:
1612:
1603:
1602:
1592:
1568:
1562:
1561:
1551:
1519:
1513:
1512:
1510:
1508:
1494:
1488:
1487:
1477:
1453:
1447:
1446:
1444:
1443:
1434:. Archived from
1424:
1418:
1417:
1415:
1414:
1405:. Archived from
1395:
1389:
1378:
1372:
1371:
1335:
1329:
1328:
1326:
1324:
1310:
1304:
1303:
1293:
1261:
1255:
1254:
1244:
1220:
1214:
1213:
1189:
1183:
1182:
1180:
1179:
1164:
1158:
1157:
1147:
1123:
1117:
1116:
1114:
1112:
1098:
1092:
1091:
1081:
1049:
1040:
1039:
1019:
1013:
1002:
996:
990:
984:
983:
973:
941:
935:
934:
906:
900:
899:
897:
896:
877:
871:
870:
860:
836:
830:
829:
827:
825:
811:
802:
801:
799:
797:
781:
770:
769:
767:
766:
751:
745:
744:
734:
694:
688:
687:
677:
653:
647:
646:
644:
643:
628:
619:
608:
602:
601:
599:
598:
589:. Archived from
579:
570:
569:
567:
566:
557:. Archived from
551:
294:type IV collagen
255:genetic disorder
97:type IV collagen
67:genetic disorder
56:
55:
47:Medical genetics
31:
19:
18:
3329:
3328:
3324:
3323:
3322:
3320:
3319:
3318:
3284:Kidney diseases
3274:
3273:
3272:
3263:
3205:
3188:
3164:McLeod syndrome
3147:
3125:
3111:Alport syndrome
3097:
3060:
3026:
2987:Ocular albinism
2937:
2903:Hunter syndrome
2816:
2784:
2756:
2703:
2690:
2684:
2654:
2645:
2636:Urachal fistula
2610:
2590:
2557:
2528:
2500:
2496:Alport syndrome
2445:Meckel syndrome
2421:Potter sequence
2390:
2378:
2348:
2343:
2331:
2291:
2264:
2248:
2232:
2227:
2224:
2216:
2213:
2199:
2189:
2170:
2154:
2149:
2146:
2132:
2127:
2124:
2110:
2076:
2071:
2068:
2060:
2057:
2040:
2035:
2032:
2015:
2011:Alport syndrome
1996:
1986:
1983:
1966:
1950:
1947:
1924:
1921:
1920:Achondrogenesis
1900:
1895:
1892:
1884:
1881:
1855:
1841:
1804:
1799:
1798:
1772:Alport syndrome
1731:
1730:
1654:
1640:
1634:
1622:Alport syndrome
1619:
1610:
1607:
1606:
1569:
1565:
1534:(12): 1969–76.
1520:
1516:
1506:
1504:
1496:
1495:
1491:
1454:
1450:
1441:
1439:
1426:
1425:
1421:
1412:
1410:
1397:
1396:
1392:
1379:
1375:
1336:
1332:
1322:
1320:
1312:
1311:
1307:
1262:
1258:
1235:(5): 1598–603.
1221:
1217:
1190:
1186:
1177:
1175:
1166:
1165:
1161:
1138:(10): 2603–10.
1124:
1120:
1110:
1108:
1100:
1099:
1095:
1050:
1043:
1020:
1016:
1003:
999:
991:
987:
942:
938:
907:
903:
894:
892:
878:
874:
851:(6): 1291–300.
837:
833:
823:
821:
813:
812:
805:
795:
793:
782:
773:
764:
762:
752:
748:
709:(3454): 504–6.
695:
691:
654:
650:
641:
639:
630:
629:
622:
609:
605:
596:
594:
587:Alport syndrome
581:
580:
573:
564:
562:
553:
552:
548:
543:
515:
506:
498:
456:
451:
443:
435:
433:Genetic testing
426:
418:Genetic testing
398:
390:
314:
263:
251:
249:Pathophysiology
228:
219:
187:corneal erosion
171:
154:
122:urine dipsticks
118:
109:
86:Cecil A. Alport
63:Alport syndrome
50:
22:Alport syndrome
17:
12:
11:
5:
3327:
3317:
3316:
3311:
3309:Rare syndromes
3306:
3301:
3296:
3291:
3286:
3269:
3268:
3265:
3264:
3262:
3261:
3256:
3251:
3246:
3244:CHILD syndrome
3241:
3236:
3231:
3226:
3221:
3216:
3210:
3207:
3206:
3194:
3193:
3190:
3189:
3187:
3186:
3181:
3176:
3171:
3166:
3161:
3159:Barth syndrome
3155:
3153:
3149:
3148:
3146:
3145:
3139:
3137:
3127:
3126:
3124:
3123:
3118:
3116:Dent's disease
3113:
3107:
3105:
3099:
3098:
3096:
3095:
3090:
3085:
3080:
3070:
3068:
3062:
3061:
3059:
3058:
3053:
3048:
3043:
3037:
3035:
3028:
3027:
3025:
3024:
3019:
3014:
3005:
3004:
2999:
2997:Norrie disease
2994:
2984:
2979:Eye disorders:
2975:
2974:
2969:
2964:
2959:
2947:
2945:
2943:Nervous system
2939:
2938:
2936:
2935:
2929:Menkes disease
2919:
2918:
2906:
2905:
2893:
2892:
2880:
2879:
2874:
2869:
2857:
2856:
2844:
2843:
2838:
2826:
2824:
2818:
2817:
2815:
2814:
2809:
2804:
2794:
2792:
2786:
2785:
2783:
2782:
2777:
2772:
2766:
2764:
2758:
2757:
2755:
2754:
2749:
2744:
2739:
2734:
2729:
2724:
2719:
2713:
2711:
2705:
2704:
2692:
2691:
2683:
2682:
2675:
2668:
2660:
2651:
2650:
2647:
2646:
2644:
2643:
2638:
2633:
2627:
2625:
2616:
2612:
2611:
2609:
2608:
2602:
2600:
2596:
2595:
2592:
2591:
2589:
2588:
2583:
2578:
2573:
2567:
2565:
2559:
2558:
2556:
2555:
2549:
2547:
2538:
2534:
2533:
2530:
2529:
2527:
2526:
2521:
2516:
2514:Ectopic ureter
2510:
2508:
2502:
2501:
2499:
2498:
2493:
2491:Dent's disease
2487:
2486:
2481:
2476:
2471:
2466:
2460:
2459:
2458:
2457:
2452:
2447:
2442:
2429:
2428:
2423:
2418:
2413:
2411:Renal agenesis
2407:
2405:
2396:
2392:
2391:
2388:urinary system
2377:
2376:
2369:
2362:
2354:
2345:
2344:
2336:
2333:
2332:
2330:
2329:
2328:
2327:
2315:
2310:
2308:Raine syndrome
2305:
2299:
2297:
2293:
2292:
2290:
2289:
2284:
2278:
2276:
2270:
2269:
2266:
2265:
2263:
2262:
2256:
2254:
2250:
2249:
2247:
2246:
2240:
2238:
2234:
2233:
2231:
2230:
2219:
2207:
2205:
2201:
2200:
2198:
2197:
2184:
2178:
2176:
2172:
2171:
2169:
2168:
2162:
2160:
2156:
2155:
2153:
2152:
2140:
2138:
2134:
2133:
2131:
2130:
2118:
2116:
2112:
2111:
2109:
2108:
2103:
2098:
2093:
2087:
2085:
2078:
2077:
2075:
2074:
2063:
2051:
2049:
2042:
2041:
2039:
2038:
2026:
2024:
2017:
2016:
2014:
2013:
2007:
2005:
1998:
1997:
1995:
1994:
1989:
1977:
1975:
1968:
1967:
1965:
1964:
1954:
1943:
1938:
1933:
1928:
1917:
1911:
1909:
1902:
1901:
1899:
1898:
1887:
1875:
1873:
1863:
1857:
1856:
1853:scleroproteins
1840:
1839:
1832:
1825:
1817:
1811:
1810:
1801:
1800:
1797:
1796:
1785:
1774:
1763:
1752:
1740:
1739:
1737:
1733:
1732:
1729:
1728:
1717:
1706:
1686:
1671:
1655:
1650:
1649:
1647:
1646:Classification
1639:
1638:External links
1636:
1605:
1604:
1563:
1514:
1489:
1448:
1419:
1390:
1373:
1346:(8): 1245–50.
1330:
1305:
1256:
1215:
1184:
1159:
1118:
1093:
1064:(2): 158–168.
1041:
1014:
997:
985:
936:
901:
872:
831:
803:
771:
746:
689:
648:
620:
603:
571:
545:
544:
542:
539:
538:
537:
532:
527:
521:
514:
511:
505:
502:
497:
494:
464:ACE inhibitors
455:
452:
450:
447:
442:
439:
434:
431:
425:
424:Family history
422:
397:
394:
389:
386:
382:
381:
360:
341:
313:
310:
262:
259:
250:
247:
227:
224:
218:
217:Leiomyomatosis
215:
196:contact lenses
170:
167:
153:
150:
130:ACE inhibitors
117:
114:
108:
105:
77:is universal.
75:Blood in urine
58:
57:
44:
38:
37:
33:
32:
24:
23:
15:
9:
6:
4:
3:
2:
3326:
3315:
3312:
3310:
3307:
3305:
3302:
3300:
3297:
3295:
3292:
3290:
3287:
3285:
3282:
3281:
3279:
3260:
3257:
3255:
3252:
3250:
3247:
3245:
3242:
3240:
3239:Rett syndrome
3237:
3235:
3232:
3230:
3227:
3225:
3222:
3220:
3217:
3215:
3212:
3211:
3208:
3204:
3199:
3195:
3185:
3182:
3180:
3177:
3175:
3172:
3170:
3167:
3165:
3162:
3160:
3157:
3156:
3154:
3150:
3144:
3141:
3140:
3138:
3136:
3132:
3128:
3122:
3119:
3117:
3114:
3112:
3109:
3108:
3106:
3104:
3100:
3094:
3091:
3089:
3086:
3084:
3081:
3079:
3075:
3072:
3071:
3069:
3067:
3066:Neuromuscular
3063:
3057:
3054:
3052:
3049:
3047:
3044:
3042:
3039:
3038:
3036:
3033:
3029:
3023:
3020:
3018:
3015:
3013:
3010:
3007:
3006:
3003:
3002:Choroideremia
3000:
2998:
2995:
2992:
2988:
2985:
2983:
2980:
2977:
2976:
2973:
2970:
2968:
2965:
2963:
2962:MASA syndrome
2960:
2958:
2955:
2953:
2949:
2948:
2946:
2944:
2940:
2934:
2930:
2927:
2925:
2921:
2920:
2917:
2914:
2912:
2908:
2907:
2904:
2901:
2899:
2895:
2894:
2891:
2890:Fabry disease
2887:
2886:
2882:
2881:
2878:
2875:
2873:
2870:
2868:
2865:
2863:
2859:
2858:
2855:
2852:
2850:
2846:
2845:
2842:
2839:
2837:
2834:
2832:
2828:
2827:
2825:
2823:
2819:
2813:
2810:
2808:
2805:
2803:
2799:
2796:
2795:
2793:
2791:
2787:
2781:
2778:
2776:
2775:Haemophilia B
2773:
2771:
2770:Haemophilia A
2768:
2767:
2765:
2763:
2759:
2753:
2750:
2748:
2745:
2743:
2740:
2738:
2735:
2733:
2730:
2728:
2725:
2723:
2720:
2718:
2715:
2714:
2712:
2710:
2706:
2702:
2697:
2693:
2688:
2681:
2676:
2674:
2669:
2667:
2662:
2661:
2658:
2642:
2641:Urachal sinus
2639:
2637:
2634:
2632:
2629:
2628:
2626:
2624:
2620:
2617:
2613:
2607:
2604:
2603:
2601:
2597:
2587:
2584:
2582:
2579:
2577:
2574:
2572:
2569:
2568:
2566:
2564:
2560:
2554:
2551:
2550:
2548:
2546:
2542:
2539:
2535:
2525:
2522:
2520:
2517:
2515:
2512:
2511:
2509:
2507:
2503:
2497:
2494:
2492:
2489:
2488:
2485:
2484:Pelvic kidney
2482:
2480:
2477:
2475:
2472:
2470:
2469:Renal ectopia
2467:
2465:
2462:
2461:
2456:
2453:
2451:
2448:
2446:
2443:
2441:
2438:
2437:
2436:
2435:
2431:
2430:
2427:
2424:
2422:
2419:
2417:
2414:
2412:
2409:
2408:
2406:
2404:
2400:
2397:
2393:
2389:
2385:
2382:
2375:
2370:
2368:
2363:
2361:
2356:
2355:
2352:
2342:
2341:
2334:
2326:
2323:
2322:
2321:
2320:
2316:
2314:
2311:
2309:
2306:
2304:
2301:
2300:
2298:
2294:
2288:
2285:
2283:
2280:
2279:
2277:
2275:
2271:
2261:
2258:
2257:
2255:
2251:
2245:
2242:
2241:
2239:
2235:
2223:
2220:
2212:
2209:
2208:
2206:
2202:
2195:
2188:
2185:
2183:
2180:
2179:
2177:
2173:
2167:
2164:
2163:
2161:
2157:
2145:
2142:
2141:
2139:
2135:
2123:
2120:
2119:
2117:
2113:
2107:
2104:
2102:
2101:Bart syndrome
2099:
2097:
2094:
2092:
2089:
2088:
2086:
2083:
2079:
2067:
2064:
2056:
2053:
2052:
2050:
2047:
2043:
2031:
2028:
2027:
2025:
2022:
2018:
2012:
2009:
2008:
2006:
2003:
1999:
1993:
1990:
1982:
1979:
1978:
1976:
1973:
1969:
1962:
1958:
1955:
1953:
1944:
1942:
1939:
1937:
1934:
1932:
1929:
1927:
1918:
1916:
1913:
1912:
1910:
1907:
1903:
1891:
1888:
1880:
1877:
1876:
1874:
1871:
1867:
1864:
1862:
1858:
1854:
1850:
1846:
1838:
1833:
1831:
1826:
1824:
1819:
1818:
1815:
1809:
1806:
1805:
1795:
1791:
1790:
1786:
1784:
1780:
1779:
1775:
1773:
1769:
1768:
1764:
1762:
1758:
1757:
1753:
1751:
1747:
1746:
1742:
1741:
1738:
1734:
1727:
1723:
1722:
1718:
1716:
1712:
1711:
1707:
1705:
1702:
1699:
1696:
1692:
1691:
1687:
1685:
1681:
1680:
1676:
1672:
1670:
1666:
1665:
1661:
1657:
1656:
1653:
1648:
1644:
1635:
1632:
1628:
1624:
1623:
1617:
1600:
1596:
1591:
1586:
1582:
1578:
1574:
1567:
1559:
1555:
1550:
1545:
1541:
1537:
1533:
1529:
1525:
1518:
1503:
1499:
1493:
1485:
1481:
1476:
1471:
1468:(5): 1493–9.
1467:
1463:
1459:
1452:
1438:on 2016-02-10
1437:
1433:
1432:www.edren.org
1429:
1423:
1409:on 2010-04-17
1408:
1404:
1400:
1394:
1388:
1384:
1383:
1377:
1369:
1365:
1361:
1357:
1353:
1349:
1345:
1341:
1334:
1319:
1315:
1309:
1301:
1297:
1292:
1287:
1283:
1279:
1275:
1271:
1267:
1260:
1252:
1248:
1243:
1238:
1234:
1230:
1226:
1219:
1211:
1207:
1203:
1199:
1195:
1188:
1173:
1169:
1163:
1155:
1151:
1146:
1141:
1137:
1133:
1129:
1122:
1107:
1103:
1097:
1089:
1085:
1080:
1075:
1071:
1067:
1063:
1059:
1055:
1048:
1046:
1037:
1033:
1029:
1025:
1018:
1012:
1008:
1007:
1001:
995:
989:
981:
977:
972:
967:
963:
959:
955:
951:
947:
940:
932:
928:
924:
920:
916:
912:
905:
891:
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2631:Urachal cyst
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1843:Diseases of
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2762:Hematologic
2576:Hypospadias
1778:GeneReviews
1745:MedlinePlus
1715:y D009394 y
819:MedlinePlus
796:17 February
662:Hippokratia
441:Other tests
380:does occur.
179:keratoconus
169:Eye changes
159:proteinuria
79:Proteinuria
3278:Categories
2831:Amino acid
2571:Epispadias
2519:Megaureter
2381:Congenital
1851:and other
1767:Patient UK
1721:DiseasesDB
1442:2016-02-17
1413:2010-03-24
1276:(6): 713.
1178:2008-11-24
895:2024-06-27
765:2022-08-01
642:2022-08-01
597:2019-01-06
565:2004-06-16
541:References
474:or with a
235:Leiomyomas
175:lenticonus
134:creatinine
126:haematuria
2822:Metabolic
2790:Endocrine
2689:disorders
2615:Vestigial
2395:Abdominal
2338:see also
1756:eMedicine
1387:eMedicine
1011:eMedicine
790:RareRenal
504:Prognosis
490:podocytes
449:Treatment
388:Diagnosis
267:mutations
183:cataracts
42:Specialty
3103:Urologic
3078:Duchenne
2687:X-linked
2228:(type 2)
2217:(type 2)
2128:(type 1)
2072:(type 1)
2061:(type 1)
1925:(type 2)
1845:collagen
1789:Orphanet
1599:12595505
1558:22997344
1368:28650514
1360:18343956
1300:22166944
1251:15086897
1210:16970251
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1088:30128941
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723:25322864
684:18923659
513:See also
472:dialysis
322:X-linked
300:, inner
261:Genetics
142:dialysis
2924:Mineral
2623:Urachus
2563:Urethra
2545:Bladder
2274:Laminin
1849:laminin
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1507:28 June
1484:9150464
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858:1682577
824:28 June
732:2454341
675:2464308
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1480:PMID
1356:PMID
1325:2021
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