424:, an immotile, hair-like cellular organelle present on the surface of most cells in the body, anchored in the cell body by the basal body. In the kidney, primary cilia have been found to be present on most cells of the nephron, projecting from the apical surface of the renal epithelium into the tubule lumen. The cilia were believed to bend in the urine flow, leading to changes in signalling, however this has since been shown to be an experimental error (the bending of cilia was an artifact of focal plane compensation, and also the actual effect on micturition by severe hypertension and cardiac arrest) and that bending of cilia does not contribute to alterations in Ca flux. While it is not known how defects in the primary cilium lead to cyst development, it is thought to possibly be related to disruption of one of the many signaling pathways regulated by the primary cilium, including intracellular calcium, Wnt/β-catenin, cyclic adenosine monophosphate (cAMP), or planar cell polarity (PCP). Function of the primary cilium is impaired, resulting in disruption of a number of intracellular signaling cascades which produce differentiation of cystic epithelium, increased cell division, increased apoptosis, and loss of resorptive capacity.
484:) was introduced as the first FDA-approved treatment for PKD. In a recent long-term study, patients using Tolvaptan had a 6.4% higher kidney function after 5 years compared to standard of care. In 2019, a team of researchers at UCSB found that a ketogenic diet might be able to halt, or even reverse progression in mice, and the results of a first human case series study are showing potential benefit. The results of a 3-month randomized, prospective dietary intervention clinical trial are pending. In addition, recent research indicates that mild to moderate calorie restriction or time-restricted feeding slow the progression of
287:
40:
279:
473:
2371:
393:
488:(ADPKD) in mice Patient communities have been combining both ketogenic diets and time-restricted feeding with a low-oxalate diet to prevent the formation of stones and early reports show an average of 17% increase in kidney function after approximately one year on a ketogenic, time-restricted dietary regimen. If and when the disease progresses enough in a given case, the
271:
507:, which can be done at least two different ways at varying frequencies and durations (whether it is done at home or in the clinic depends on the method used and the patient's stability and training) and eventually, if they are eligible because of the nature and severity of their condition and if a suitable match can be found, unilateral or bilateral
416:
The disease is characterized by a ‘second hit’ phenomenon, in which a mutated dominant allele is inherited from a parent, with cyst formation occurring only after the normal, wild-type gene sustains a subsequent second genetic ‘hit’, resulting in renal tubular cyst formation and disease progression.
412:
proteins appear to be involved in both autosomal dominant and recessive polycystic kidney disease due to defects in both proteins. Both proteins have communication with calcium channel proteins, and causes reduction in resting (intracellular) calcium and endoplasmic reticulum storage of calcium.
128:
within the kidney. These cysts may begin to develop in utero, in infancy, in childhood, or in adulthood. Cysts are non-functioning tubules filled with fluid pumped into them, which range in size from microscopic to enormous, crushing adjacent normal tubules and eventually rendering them
549:
PKD is one of the most common hereditary diseases in the United States, affecting more than 600,000 people. It is the cause of nearly 10% of all end-stage renal disease. It equally affects men, women, and all races. PKD occurs in some animals as well as humans.
132:
PKD is caused by abnormal genes that produce a specific abnormal protein; this protein has an adverse effect on tubule development. PKD is a general term for two types, each having their own pathology and genetic cause:
247:
PKD is caused by abnormal genes which produce a specific abnormal protein which has an adverse effect on tubule development. PKD is a general term for two types, each having their own pathology and genetic cause:
171:
Diagnosis may be suspected from one, some, or all of the following: new onset flank pain or red urine; a positive family history; palpation of enlarged kidneys on physical exam; an incidental finding on abdominal
2257:
2242:
376:(ARPKD) (OMIM #263200) is the less common of the two types of PKD, with an incidence of 1:20,000 live births and is typically identified in the first few weeks after birth. Unfortunately, the kidneys are often
816:
757:
2031:
2417:
1266:
Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S (December 1993). "Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23".
1174:
Kumar S, Kimberling WJ, Gabow PA, Kenyon JB (June 1991). "Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large
Sicilian family".
1301:
Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, et al. (May 1996). "PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein".
3069:
3022:
356:, although fewer than 5% of nephrons are thought to be involved. As the cysts accumulate fluid, they enlarge, separate from the nephron, compress the neighboring kidney
1592:"Ketogenic dietary interventions in autosomal dominant polycystic kidney disease-a retrospective case series study: first insights into feasibility, safety and effects"
2410:
334:
and codes for a protein involved in cell cycle regulation and intracellular calcium transport in epithelial cells and is responsible for 85% of the cases of ADPKD.
297:
polycystic kidney disease (ADPKD) is the most common of all the inherited cystic kidney diseases with an incidence of 1:500 live births. Studies show that 10% of
1411:
348:
PKD3 recently appeared in research papers as a postulated third gene. Fewer than 10% of cases of ADPKD appear in non-ADPKD families. Cyst formation begins
846:
824:
2403:
2057:
518:, to control infections of the cysts in the kidneys, and if affected, the liver, when needed for a certain duration to combat infection, by using, "
323:
3303:
2035:
634:
514:
A Cochrane Review study of autosomal dominant polycystic kidney disease made note of the fact that it is important at all times, while avoiding
612:
559:
373:
253:
138:
485:
265:
249:
196:
134:
1802:
2723:
656:
200:
341:, with inward selectivity for K>Na>>Ca and outward selectivity for Ca2+ ≈ Ba2+ > Na+ ≈ K+, are coded for by PKD2 on
3260:
3050:
2015:
3128:
3045:
762:
185:
2272:
1078:"Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease"
1754:"A mild reduction of food intake slows disease progression in an orthologous mouse model of polycystic kidney disease"
1421:
856:
3164:
3057:
2818:
1462:
199:(RAAS), frequent cyst infections, urinary bleeding, and declining renal function. Hypertension is treated with
2395:
2386:
400:
Both autosomal dominant and autosomal recessive polycystic kidney disease cyst formation are tied to abnormal
3255:
3090:
2786:
2748:
2716:
2495:
1656:"Metabolic Reprogramming in Autosomal Dominant Polycystic Kidney Disease: Evidence and Therapeutic Potential"
208:
2061:
223:. Management from the time of the suspected or definitive diagnosis is by an appropriately trained doctor.
2911:
2354:
1875:
943:
Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A (January 2006). "Renal cystic diseases: a review".
534:
ADPKD individuals might have a normal life; conversely, ARPKD can cause kidney dysfunction and can lead to
3245:
2976:
2822:
1828:"Crystal deposition triggers tubule dilation that accelerates cystogenesis in polycystic kidney disease"
1219:"Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1"
3250:
3240:
3273:
3177:
2884:
2866:
2796:
2631:
493:
290:
Cartoon of autosomal recessive polycystic kidney disease with normal kidney inset to right of diagram
212:
1541:
Torres JA, Kruger SL, Broderick C, Amarlkhagva T, Agrawal S, Dodam JR, et al. (December 2019).
282:
Cartoon of autosomal dominant polycystic kidney disease with normal kidney inset to right of diagram
3293:
3121:
2971:
2896:
2753:
2709:
2626:
2283:
1076:
Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, et al. (June 2016).
298:
2879:
2853:
2834:
2686:
2590:
2500:
472:
337:
Gene PKD2 is identified, using genetic linkage study, on chromosome 4. A group of voltage-linked
165:
286:
141:(ARPKD). The abnormal gene exists in all cells in the body; as a result, cysts may occur in the
2963:
2958:
2929:
508:
278:
39:
2323:
1959:"Interventions for preventing the progression of autosomal dominant polycystic kidney disease"
1903:"Interventions for infected cysts in people with autosomal dominant polycystic kidney disease"
588:
2838:
2479:
2471:
989:
Torres VE, Harris PC, Pirson Y (April 2007). "Autosomal dominant polycystic kidney disease".
515:
220:
2791:
2768:
2651:
2524:
1939:
1310:
294:
538:
by the age of 40–60. ADPKD1 and ADPKD2 are very different, in that ADPKD2 is much milder.
211:(ARBs). Infections are treated with antibiotics. Declining renal function is treated with
8:
3298:
3114:
3004:
2989:
2426:
2261:
2148:
1641:"Ketogenic Dietary Interventions in Autosomal Dominant Polycystic Kidney Disease (ADPKD)"
1590:
Strubl S, Oehm S, Torres JA, Grundmann F, Haratani J, Decker M, et al. (June 2022).
3235:
2376:
1492:
Zhou X, Davenport E, Ouyang J, Hoke ME, Garbinsky D, Agarwal I, et al. (May 2022).
1314:
541:
Currently, there are no therapies proven effective to prevent the progression of ADPKD.
239:. Other symptoms include pain in the back, and cyst formation (renal and other organs).
3095:
2740:
2202:
2175:
2157:
2132:
2114:
2089:
1983:
1958:
1920:
1852:
1827:
1778:
1753:
1729:
1704:
1680:
1655:
1616:
1591:
1567:
1542:
1518:
1493:
1387:
1360:
1334:
1243:
1218:
1199:
1151:
1126:
1125:
Thivierge C, Kurbegovic A, Couillard M, Guillaume R, Coté O, Trudel M (February 2006).
1102:
1077:
1014:
968:
956:
909:
884:
704:
679:
64:
2266:
1279:
1002:
695:
2999:
2938:
2810:
2804:
2598:
2569:
2536:
2294:
2207:
2162:
2119:
2011:
1988:
1857:
1783:
1734:
1685:
1621:
1572:
1523:
1474:
1417:
1392:
1326:
1283:
1248:
1191:
1156:
1107:
1058:
1006:
960:
914:
852:
798:
740:
709:
161:
82:
52:
1924:
1338:
1203:
1142:
972:
3219:
3203:
3062:
2981:
2953:
2943:
2519:
2509:
2461:
2429:
2334:
2197:
2187:
2176:"Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment"
2152:
2144:
2109:
2101:
1978:
1974:
1970:
1910:
1847:
1839:
1826:
Torres JA, Rezaei M, Broderick C, Lin L, Wang X, Hoppe B, et al. (July 2019).
1773:
1765:
1724:
1716:
1675:
1667:
1611:
1603:
1562:
1554:
1513:
1505:
1382:
1372:
1361:"Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment"
1318:
1275:
1238:
1230:
1183:
1146:
1138:
1097:
1089:
1048:
1018:
998:
952:
904:
896:
788:
699:
691:
181:
158:
146:
117:
1640:
1322:
124:
become structurally abnormal, resulting in the development and growth of multiple
3190:
3185:
2948:
2782:
2681:
2541:
2490:
2466:
2288:
1957:
Bolignano D, Palmer SC, Ruospo M, Zoccali C, Craig JC, Strippoli GF (July 2015).
1437:
900:
504:
361:
216:
1769:
3032:
3014:
2994:
2919:
2889:
2758:
2559:
2456:
2448:
2433:
2425:
2343:
2340:
2337:
2299:
1703:
Warner G, Hein KZ, Nin V, Edwards M, Chini CC, Hopp K, et al. (May 2016).
1558:
1509:
1494:"Pooled Data Analysis of the Long-Term Treatment Effects of Tolvaptan in ADPKD"
1093:
793:
776:
535:
519:
497:
453:
421:
338:
1915:
1902:
3287:
2529:
2514:
1940:"Polycystic Kidney Disease: Practice Essentials, Background, Pathophysiology"
1478:
523:
449:
331:
173:
2251:
1217:
Kumar S, Kimberling WJ, Gabow PA, Shugart YY, Pieke-Dahl S (November 1990).
728:
176:; or an incidental finding of abnormal kidney function on routine lab work (
3085:
2858:
2676:
2211:
2166:
2123:
1992:
1861:
1787:
1738:
1720:
1705:"Food Restriction Ameliorates the Development of Polycystic Kidney Disease"
1689:
1625:
1576:
1527:
1396:
1160:
1111:
1062:
1010:
964:
918:
802:
713:
489:
409:
405:
342:
302:
231:
Signs and symptoms include high blood pressure, headaches, abdominal pain,
121:
2234:
2105:
1607:
1330:
1287:
1252:
1234:
1195:
1053:
1036:
744:
659:. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
637:. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
615:. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
2901:
2621:
2318:
1671:
2192:
1377:
3198:
3172:
3137:
2845:
2814:
2616:
2564:
2349:
1187:
492:
or other practitioner and the patient will have to decide what form of
441:
377:
357:
305:
in Europe and the U.S. were initially diagnosed and treated for ADPKD.
57:
47:
Severely affected polycystic kidneys removed at time of transplantation
1843:
1075:
2329:
1124:
481:
232:
3106:
1543:"Ketosis Ameliorates Renal Cyst Growth in Polycystic Kidney Disease"
2871:
308:
236:
154:
150:
2701:
2032:"Polycystic kidney disease (PKD): Gene test and negative register"
2668:
2608:
433:
353:
189:
2277:
1540:
848:
195:
Complications include hypertension due to the activation of the
2551:
2246:
942:
349:
392:
1300:
445:
401:
381:
312:
142:
2180:
International
Journal of Nephrology and Renovascular Disease
1956:
1901:
Montero N, Sans L, Webster AC, Pascual J (29 January 2014).
1365:
International
Journal of Nephrology and Renovascular Disease
1037:"Polycystic kidney disease: cell division without a c(l)ue?"
274:
CT scan showing autosomal dominant polycystic kidney disease
2732:
1752:
Kipp KR, Rezaei M, Lin L, Dewey EC, Weimbs T (April 2016).
1216:
444:
of the same area. A physical exam/test can reveal enlarged
319:
315:
204:
125:
1413:
Comprehensive
Clinical Nephrology: Expert Consult - Online
1265:
1173:
1900:
1589:
1127:"Overexpression of PKD1 causes polycystic kidney disease"
726:
437:
177:
1825:
885:"MicroRNAs in the pathogenesis of cystic kidney disease"
380:, resulting in a 30% death rate in newborns with ARPKD.
270:
1803:"6 Ways People with PKD Can Lower Their Blood Pressure"
1491:
727:
Kimberling WJ, Pieke-Dahl SA, Kumar S (November 1991).
464:
Most cases progress to bilateral disease in adulthood.
2173:
1660:
Clinical
Journal of the American Society of Nephrology
1358:
2058:"PKD - Polycystic Kidney Disease - British Shorthair"
2010:. Philadelphia, PA: F.A. Davis Company. p. 443.
1938:
Torra R (2018-07-20). Talavera F, Aronoff GR (eds.).
1876:"Breakthrough Results After 7 Years of Reversing Pkd"
1409:
500:, typically stage 4 or 5 of chronic kidney disease).
2224:
1702:
774:
432:Polycystic kidney disease can be ascertained via a
1751:
1359:Halvorson CR, Bremmer MS, Jacobs SC (2010-06-24).
988:
1354:
1352:
1350:
1348:
153:. This genetic defect can also cause aortic root
3285:
1758:American Journal of Physiology. Renal Physiology
938:
936:
934:
932:
930:
928:
496:will be used to treat end-stage kidney disease (
2090:"The cell biology of polycystic kidney disease"
1896:
1894:
1892:
1410:Johnson RJ, Feehally J, Floege J (2014-09-05).
729:"The genetics of cystic diseases of the kidney"
635:"Autosomal Recessive Polycystic Kidney Disease"
1345:
613:"Autosomal Dominant Polycystic Kidney Disease"
3122:
2717:
2411:
1709:Journal of the American Society of Nephrology
1030:
1028:
984:
982:
925:
878:
876:
874:
872:
870:
868:
560:Autosomal recessive polycystic kidney disease
374:Autosomal recessive polycystic kidney disease
254:autosomal recessive polycystic kidney disease
188:). Definitive diagnosis is made by abdominal
139:autosomal recessive polycystic kidney disease
2174:Halvorson CR, Bremmer MS, Jacobs SC (2010).
2130:
2087:
1950:
1889:
486:autosomal dominant polycystic kidney disease
266:Autosomal dominant polycystic kidney disease
250:autosomal dominant polycystic kidney disease
135:autosomal dominant polycystic kidney disease
1963:The Cochrane Database of Systematic Reviews
677:
3129:
3115:
2724:
2710:
2418:
2404:
1034:
1025:
979:
865:
38:
2201:
2191:
2156:
2113:
2008:Fifth Edition: Diseases of the Human Body
1982:
1914:
1851:
1777:
1728:
1679:
1653:
1615:
1566:
1517:
1386:
1376:
1242:
1150:
1101:
1052:
908:
792:
775:Cramer MT, Guay-Woodford LM (July 2015).
703:
326:have similar phenotypical presentations.
2034:. International Cat Care. Archived from
471:
391:
285:
277:
269:
201:angiotensin converting enzyme inhibitors
95:Antihypertensives, Life style management
2005:
1907:Cochrane Database of Systematic Reviews
1800:
3304:Congenital disorders of urinary system
3286:
2667:
2589:
2088:Chapin HC, Caplan MJ (November 2010).
1638:
882:
583:
581:
579:
577:
575:
368:
3261:Autosomal recessive polycystic kidney
3136:
3110:
3051:Autosomal recessive polycystic kidney
2705:
2399:
1937:
1832:The Journal of Clinical Investigation
851:. Lippincott Williams & Wilkins.
844:
259:
226:
164:, which if they rupture, can cause a
16:Congenital disorder of urinary system
3046:Autosomal dominant polycystic kidney
2149:10.1146/annurev.med.60.101707.125712
657:"What Is Polycystic Kidney Disease?"
197:renin–angiotensin–aldosterone system
2731:
2131:Harris PC, Torres VE (2009-01-01).
1035:Simons M, Walz G (September 2006).
572:
301:(ESKD) patients being treated with
13:
2080:
1463:"FDA Approves Tolvaptan for ADPKD"
1082:American Journal of Human Genetics
957:10.1097/01.pap.0000201831.77472.d3
781:Advances in Chronic Kidney Disease
459:
14:
3315:
2220:
777:"Cystic kidney disease: a primer"
503:That will either be some form of
476:Chr 11 FISH-mapped BACs from CGAP
2369:
593:MedlinePlus Medical Encyclopedia
420:PKD results from defects in the
3165:Asphyxiating thoracic dysplasia
3058:Medullary cystic kidney disease
2819:Proliferating trichilemmal cyst
2050:
2024:
1999:
1931:
1868:
1819:
1794:
1745:
1696:
1654:Nowak KL, Hopp K (April 2020).
1647:
1632:
1583:
1534:
1485:
1455:
1430:
1403:
1294:
1259:
1210:
1167:
1143:10.1128/MCB.26.4.1538-1548.2006
1118:
1069:
838:
544:
360:, and progressively compromise
2430:malformations and deformations
1975:10.1002/14651858.CD010294.pub2
1131:Molecular and Cellular Biology
945:Advances in Anatomic Pathology
809:
768:
751:
720:
671:
649:
627:
605:
311:mutations in any of the three
1:
2787:Proliferating epidermoid cyst
2749:Langerhans cell histiocytosis
2496:Multicystic dysplastic kidney
1323:10.1126/science.272.5266.1339
1280:10.1016/S0888-7543(11)80001-7
1003:10.1016/S0140-6736(07)60601-1
889:Current Opinion in Pediatrics
696:10.1016/S0140-6736(10)60236-X
565:
209:angiotensin receptor blockers
2912:Human musculoskeletal system
1498:Kidney International Reports
1416:. Elsevier Health Sciences.
901:10.1097/mop.0000000000000168
883:Phua YL, Ho J (April 2015).
763:Dorland's Medical Dictionary
678:Hildebrandt F (April 2010).
529:
467:
427:
387:
7:
3070:Congenital cystic dysplasia
2977:Congenital hepatic fibrosis
2823:Malignant trichilemmal cyst
2133:"Polycystic kidney disease"
2094:The Journal of Cell Biology
1770:10.1152/ajprenal.00551.2015
1438:"Polycystic Kidney Disease"
1223:Journal of Medical Genetics
817:"Polycystic Kidney Disease"
758:"polycystic kidney disease"
589:"Polycystic kidney disease"
553:
10:
3320:
3251:Orofaciodigital syndrome 1
3241:Primary ciliary dyskinesia
3023:Cystic leukoencephalopathy
2060:. Antagene. Archived from
1559:10.1016/j.cmet.2019.09.012
1510:10.1016/j.ekir.2022.02.009
1442:National Kidney Foundation
1094:10.1016/j.ajhg.2016.05.004
794:10.1053/j.ackd.2015.04.001
436:of abdomen, as well as an
263:
114:polycystic kidney syndrome
3269:
3256:McKusick–Kaufman syndrome
3228:
3212:
3155:Polycystic kidney disease
3144:
3091:Von Hippel–Lindau disease
3078:
3041:Polycystic kidney disease
3031:
3013:
2928:
2910:
2885:Keratin implantation cyst
2867:Pseudocyst of the auricle
2797:Eruptive vellus hair cyst
2767:
2739:
2660:
2644:
2632:Penoscrotal transposition
2627:Posterior urethral valves
2607:
2582:
2550:
2486:Polycystic kidney disease
2447:
2440:
2387:Polycystic kidney disease
2355:Polycystic kidney disease
2309:
2228:
2137:Annual Review of Medicine
1916:10.1002/14651858.cd010946
680:"Genetic kidney diseases"
494:renal replacement therapy
404:-mediated signaling. The
352:from any point along the
213:renal replacement therapy
102:Polycystic kidney disease
91:
81:
73:
63:
51:
46:
37:
29:
25:Polycystic kidney disease
24:
2972:Polycystic liver disease
2897:Adenoid cystic carcinoma
2852:nonstratified squamous:
2754:Lymphangioleiomyomatosis
1801:Spencer S (2021-12-25).
1643:. University of Cologne.
330:Gene PKD1 is located on
299:end-stage kidney disease
242:
129:non-functional as well.
87:MRI, CT scan, Ultrasound
2880:Cutaneous columnar cyst
2854:Cutaneous ciliated cyst
2835:Steatocystoma multiplex
2778:follicular infundibulum
2501:Medullary sponge kidney
1639:Müller R (2022-08-23).
1596:Clinical Kidney Journal
166:subarachnoid hemorrhage
157:, and aneurysms in the
2964:Nasopalatine duct cyst
2959:Odontogenic keratocyst
2930:Human digestive system
1721:10.1681/ASN.2015020132
845:Porth C (2011-01-01).
733:Seminars in Nephrology
509:kidney transplantation
477:
397:
291:
283:
275:
3246:Senior–Løken syndrome
3178:Bardet–Biedl syndrome
2878:other and ungrouped:
2839:Steatocystoma simplex
2776:stratified squamous:
2759:Cystic bronchiectasis
2472:Papillorenal syndrome
2106:10.1083/jcb.201006173
1235:10.1136/jmg.27.11.697
1054:10.1038/sj.ki.5001534
516:antibiotic resistance
475:
395:
289:
281:
273:
3033:Genitourinary system
2652:Prune belly syndrome
2525:Supernumerary kidney
1672:10.2215/CJN.13291019
1041:Kidney International
3005:Bile duct hamartoma
2193:10.2147/IJNRD.S6939
2038:on 17 November 2016
1608:10.1093/ckj/sfab162
1553:(6): 1007–1023.e5.
1378:10.2147/ijnrd.s6939
1315:1996Sci...272.1339M
1309:(5266): 1339–1342.
997:(9569): 1287–1301.
690:(9722): 1287–1295.
480:In 2018, Jynarque (
369:Autosomal recessive
237:excessive urination
33:Kidney - polycystic
3096:Tuberous sclerosis
2990:Biliary hamartomas
2741:Respiratory system
2310:External resources
2006:Tamparo C (2011).
1188:10.1007/BF00204167
478:
398:
295:Autosomal dominant
292:
284:
276:
260:Autosomal dominant
233:blood in the urine
227:Signs and symptoms
3281:
3280:
3138:Diseases of cilia
3104:
3103:
3000:Choledochal cysts
2939:Cysts of the jaws
2811:Trichilemmal cyst
2805:outer root sheath
2699:
2698:
2695:
2694:
2640:
2639:
2599:Bladder exstrophy
2578:
2577:
2570:Duplicated ureter
2364:
2363:
2064:on 17 August 2018
2017:978-0-8036-2505-1
1844:10.1172/JCI128503
1838:(10): 4506–4522.
1473:(6). 2018-06-01.
821:www.niddk.nih.gov
162:cerebral arteries
99:
98:
83:Diagnostic method
19:Medical condition
3311:
3274:ciliary proteins
3236:Alström syndrome
3220:Nephronophthisis
3204:Joubert syndrome
3131:
3124:
3117:
3108:
3107:
3079:Other conditions
3063:Nephronophthisis
2982:Peliosis hepatis
2954:Dentigerous cyst
2944:Odontogenic cyst
2726:
2719:
2712:
2703:
2702:
2665:
2664:
2587:
2586:
2520:Nephronophthisis
2510:Horseshoe kidney
2462:Renal hypoplasia
2445:
2444:
2420:
2413:
2406:
2397:
2396:
2373:
2372:
2226:
2225:
2215:
2205:
2195:
2170:
2160:
2127:
2117:
2074:
2073:
2071:
2069:
2054:
2048:
2047:
2045:
2043:
2028:
2022:
2021:
2003:
1997:
1996:
1986:
1954:
1948:
1947:
1935:
1929:
1928:
1918:
1898:
1887:
1886:
1884:
1883:
1872:
1866:
1865:
1855:
1823:
1817:
1816:
1814:
1813:
1798:
1792:
1791:
1781:
1764:(8): F726–F731.
1749:
1743:
1742:
1732:
1715:(5): 1437–1447.
1700:
1694:
1693:
1683:
1651:
1645:
1644:
1636:
1630:
1629:
1619:
1602:(6): 1079–1092.
1587:
1581:
1580:
1570:
1538:
1532:
1531:
1521:
1504:(5): 1037–1048.
1489:
1483:
1482:
1459:
1453:
1452:
1450:
1449:
1434:
1428:
1427:
1407:
1401:
1400:
1390:
1380:
1356:
1343:
1342:
1298:
1292:
1291:
1263:
1257:
1256:
1246:
1214:
1208:
1207:
1171:
1165:
1164:
1154:
1137:(4): 1538–1548.
1122:
1116:
1115:
1105:
1088:(6): 1193–1207.
1073:
1067:
1066:
1056:
1032:
1023:
1022:
986:
977:
976:
940:
923:
922:
912:
880:
863:
862:
842:
836:
835:
833:
832:
823:. Archived from
813:
807:
806:
796:
772:
766:
755:
749:
748:
724:
718:
717:
707:
675:
669:
668:
666:
664:
653:
647:
646:
644:
642:
631:
625:
624:
622:
620:
609:
603:
602:
600:
599:
585:
182:serum creatinine
159:circle of Willis
147:seminal vesicles
118:genetic disorder
112:, also known as
42:
22:
21:
3319:
3318:
3314:
3313:
3312:
3310:
3309:
3308:
3294:Kidney diseases
3284:
3283:
3282:
3277:
3265:
3229:Other/ungrouped
3224:
3208:
3191:Meckel syndrome
3186:mitotic spindle
3140:
3135:
3105:
3100:
3074:
3027:
3009:
2949:Periapical cyst
2924:
2906:
2865:no epithelium:
2783:Epidermoid cyst
2763:
2735:
2733:Cystic diseases
2730:
2700:
2691:
2682:Urachal fistula
2656:
2636:
2603:
2574:
2546:
2542:Alport syndrome
2491:Meckel syndrome
2467:Potter sequence
2436:
2424:
2394:
2393:
2392:
2374:
2370:
2365:
2360:
2359:
2305:
2304:
2237:
2223:
2218:
2083:
2081:Further reading
2078:
2077:
2067:
2065:
2056:
2055:
2051:
2041:
2039:
2030:
2029:
2025:
2018:
2004:
2000:
1969:(7): CD010294.
1955:
1951:
1936:
1932:
1899:
1890:
1881:
1879:
1874:
1873:
1869:
1824:
1820:
1811:
1809:
1799:
1795:
1750:
1746:
1701:
1697:
1652:
1648:
1637:
1633:
1588:
1584:
1547:Cell Metabolism
1539:
1535:
1490:
1486:
1461:
1460:
1456:
1447:
1445:
1436:
1435:
1431:
1424:
1408:
1404:
1357:
1346:
1299:
1295:
1264:
1260:
1229:(11): 697–700.
1215:
1211:
1172:
1168:
1123:
1119:
1074:
1070:
1033:
1026:
987:
980:
941:
926:
881:
866:
859:
843:
839:
830:
828:
815:
814:
810:
773:
769:
756:
752:
725:
721:
676:
672:
662:
660:
655:
654:
650:
640:
638:
633:
632:
628:
618:
616:
611:
610:
606:
597:
595:
587:
586:
573:
568:
556:
547:
532:
470:
462:
460:Natural history
430:
390:
371:
362:kidney function
339:cation channels
268:
262:
245:
229:
221:transplantation
77:ADPKD and ARPKD
20:
17:
12:
11:
5:
3317:
3307:
3306:
3301:
3296:
3279:
3278:
3270:
3267:
3266:
3264:
3263:
3258:
3253:
3248:
3243:
3238:
3232:
3230:
3226:
3225:
3223:
3222:
3216:
3214:
3210:
3209:
3207:
3206:
3194:
3193:
3181:
3180:
3168:
3167:
3158:
3157:
3148:
3146:
3142:
3141:
3134:
3133:
3126:
3119:
3111:
3102:
3101:
3099:
3098:
3093:
3088:
3082:
3080:
3076:
3075:
3073:
3072:
3067:
3066:
3065:
3055:
3054:
3053:
3048:
3037:
3035:
3029:
3028:
3026:
3025:
3019:
3017:
3015:Nervous system
3011:
3010:
3008:
3007:
3002:
2997:
2995:Caroli disease
2992:
2985:
2984:
2979:
2974:
2967:
2966:
2961:
2956:
2951:
2946:
2941:
2934:
2932:
2926:
2925:
2923:
2922:
2920:Cystic hygroma
2916:
2914:
2908:
2907:
2905:
2904:
2899:
2893:
2892:
2890:Verrucous cyst
2887:
2882:
2875:
2874:
2869:
2862:
2861:
2856:
2849:
2848:
2843:
2842:
2841:
2830:sebaceous duct
2827:
2826:
2825:
2801:
2800:
2799:
2794:
2789:
2773:
2771:
2765:
2764:
2762:
2761:
2756:
2751:
2745:
2743:
2737:
2736:
2729:
2728:
2721:
2714:
2706:
2697:
2696:
2693:
2692:
2690:
2689:
2684:
2679:
2673:
2671:
2662:
2658:
2657:
2655:
2654:
2648:
2646:
2642:
2641:
2638:
2637:
2635:
2634:
2629:
2624:
2619:
2613:
2611:
2605:
2604:
2602:
2601:
2595:
2593:
2584:
2580:
2579:
2576:
2575:
2573:
2572:
2567:
2562:
2560:Ectopic ureter
2556:
2554:
2548:
2547:
2545:
2544:
2539:
2537:Dent's disease
2533:
2532:
2527:
2522:
2517:
2512:
2506:
2505:
2504:
2503:
2498:
2493:
2488:
2475:
2474:
2469:
2464:
2459:
2457:Renal agenesis
2453:
2451:
2442:
2438:
2437:
2434:urinary system
2423:
2422:
2415:
2408:
2400:
2375:
2368:
2367:
2366:
2362:
2361:
2358:
2357:
2346:
2326:
2314:
2313:
2311:
2307:
2306:
2303:
2302:
2291:
2280:
2269:
2254:
2238:
2233:
2232:
2230:
2229:Classification
2222:
2221:External links
2219:
2217:
2216:
2171:
2128:
2100:(4): 701–710.
2084:
2082:
2079:
2076:
2075:
2049:
2023:
2016:
1998:
1949:
1930:
1888:
1867:
1818:
1793:
1744:
1695:
1666:(4): 577–584.
1646:
1631:
1582:
1533:
1484:
1454:
1429:
1422:
1402:
1344:
1293:
1274:(3): 467–472.
1258:
1209:
1182:(2): 129–133.
1176:Human Genetics
1166:
1117:
1068:
1047:(5): 854–864.
1024:
978:
924:
895:(2): 219–226.
864:
857:
837:
808:
787:(4): 297–305.
767:
750:
739:(6): 596–606.
719:
670:
648:
626:
604:
570:
569:
567:
564:
563:
562:
555:
552:
546:
543:
536:kidney failure
531:
528:
520:bacteriostatic
498:kidney failure
469:
466:
461:
458:
454:blood pressure
429:
426:
422:primary cilium
389:
386:
378:underdeveloped
370:
367:
366:
365:
346:
335:
264:Main article:
261:
258:
244:
241:
228:
225:
97:
96:
93:
89:
88:
85:
79:
78:
75:
71:
70:
69:Abdominal pain
67:
61:
60:
55:
49:
48:
44:
43:
35:
34:
31:
27:
26:
18:
15:
9:
6:
4:
3:
2:
3316:
3305:
3302:
3300:
3297:
3295:
3292:
3291:
3289:
3276:
3275:
3268:
3262:
3259:
3257:
3254:
3252:
3249:
3247:
3244:
3242:
3239:
3237:
3234:
3233:
3231:
3227:
3221:
3218:
3217:
3215:
3211:
3205:
3201:
3200:
3196:
3195:
3192:
3189:
3187:
3183:
3182:
3179:
3175:
3174:
3170:
3169:
3166:
3163:
3160:
3159:
3156:
3153:
3150:
3149:
3147:
3143:
3139:
3132:
3127:
3125:
3120:
3118:
3113:
3112:
3109:
3097:
3094:
3092:
3089:
3087:
3084:
3083:
3081:
3077:
3071:
3068:
3064:
3061:
3060:
3059:
3056:
3052:
3049:
3047:
3044:
3043:
3042:
3039:
3038:
3036:
3034:
3030:
3024:
3021:
3020:
3018:
3016:
3012:
3006:
3003:
3001:
2998:
2996:
2993:
2991:
2987:
2986:
2983:
2980:
2978:
2975:
2973:
2969:
2968:
2965:
2962:
2960:
2957:
2955:
2952:
2950:
2947:
2945:
2942:
2940:
2937:oral cavity:
2936:
2935:
2933:
2931:
2927:
2921:
2918:
2917:
2915:
2913:
2909:
2903:
2900:
2898:
2895:
2894:
2891:
2888:
2886:
2883:
2881:
2877:
2876:
2873:
2870:
2868:
2864:
2863:
2860:
2857:
2855:
2851:
2850:
2847:
2844:
2840:
2836:
2833:
2832:
2831:
2828:
2824:
2820:
2816:
2812:
2809:
2808:
2807:
2806:
2802:
2798:
2795:
2793:
2790:
2788:
2784:
2781:
2780:
2779:
2775:
2774:
2772:
2770:
2766:
2760:
2757:
2755:
2752:
2750:
2747:
2746:
2744:
2742:
2738:
2734:
2727:
2722:
2720:
2715:
2713:
2708:
2707:
2704:
2688:
2687:Urachal sinus
2685:
2683:
2680:
2678:
2675:
2674:
2672:
2670:
2666:
2663:
2659:
2653:
2650:
2649:
2647:
2643:
2633:
2630:
2628:
2625:
2623:
2620:
2618:
2615:
2614:
2612:
2610:
2606:
2600:
2597:
2596:
2594:
2592:
2588:
2585:
2581:
2571:
2568:
2566:
2563:
2561:
2558:
2557:
2555:
2553:
2549:
2543:
2540:
2538:
2535:
2534:
2531:
2530:Pelvic kidney
2528:
2526:
2523:
2521:
2518:
2516:
2515:Renal ectopia
2513:
2511:
2508:
2507:
2502:
2499:
2497:
2494:
2492:
2489:
2487:
2484:
2483:
2482:
2481:
2477:
2476:
2473:
2470:
2468:
2465:
2463:
2460:
2458:
2455:
2454:
2452:
2450:
2446:
2443:
2439:
2435:
2431:
2428:
2421:
2416:
2414:
2409:
2407:
2402:
2401:
2398:
2390:
2389:
2388:
2382:
2378:
2356:
2352:
2351:
2347:
2345:
2342:
2339:
2336:
2332:
2331:
2327:
2325:
2321:
2320:
2316:
2315:
2312:
2308:
2301:
2297:
2296:
2292:
2290:
2286:
2285:
2281:
2279:
2275:
2274:
2270:
2268:
2264:
2263:
2259:
2255:
2253:
2249:
2248:
2244:
2240:
2239:
2236:
2231:
2227:
2213:
2209:
2204:
2199:
2194:
2189:
2185:
2181:
2177:
2172:
2168:
2164:
2159:
2154:
2150:
2146:
2142:
2138:
2134:
2129:
2125:
2121:
2116:
2111:
2107:
2103:
2099:
2095:
2091:
2086:
2085:
2063:
2059:
2053:
2037:
2033:
2027:
2019:
2013:
2009:
2002:
1994:
1990:
1985:
1980:
1976:
1972:
1968:
1964:
1960:
1953:
1945:
1941:
1934:
1926:
1922:
1917:
1912:
1908:
1904:
1897:
1895:
1893:
1877:
1871:
1863:
1859:
1854:
1849:
1845:
1841:
1837:
1833:
1829:
1822:
1808:
1804:
1797:
1789:
1785:
1780:
1775:
1771:
1767:
1763:
1759:
1755:
1748:
1740:
1736:
1731:
1726:
1722:
1718:
1714:
1710:
1706:
1699:
1691:
1687:
1682:
1677:
1673:
1669:
1665:
1661:
1657:
1650:
1642:
1635:
1627:
1623:
1618:
1613:
1609:
1605:
1601:
1597:
1593:
1586:
1578:
1574:
1569:
1564:
1560:
1556:
1552:
1548:
1544:
1537:
1529:
1525:
1520:
1515:
1511:
1507:
1503:
1499:
1495:
1488:
1480:
1476:
1472:
1468:
1464:
1458:
1443:
1439:
1433:
1425:
1423:9780323242875
1419:
1415:
1414:
1406:
1398:
1394:
1389:
1384:
1379:
1374:
1370:
1366:
1362:
1355:
1353:
1351:
1349:
1340:
1336:
1332:
1328:
1324:
1320:
1316:
1312:
1308:
1304:
1297:
1289:
1285:
1281:
1277:
1273:
1269:
1262:
1254:
1250:
1245:
1240:
1236:
1232:
1228:
1224:
1220:
1213:
1205:
1201:
1197:
1193:
1189:
1185:
1181:
1177:
1170:
1162:
1158:
1153:
1148:
1144:
1140:
1136:
1132:
1128:
1121:
1113:
1109:
1104:
1099:
1095:
1091:
1087:
1083:
1079:
1072:
1064:
1060:
1055:
1050:
1046:
1042:
1038:
1031:
1029:
1020:
1016:
1012:
1008:
1004:
1000:
996:
992:
985:
983:
974:
970:
966:
962:
958:
954:
950:
946:
939:
937:
935:
933:
931:
929:
920:
916:
911:
906:
902:
898:
894:
890:
886:
879:
877:
875:
873:
871:
869:
860:
858:9781582557243
854:
850:
849:
841:
827:on 2017-01-04
826:
822:
818:
812:
804:
800:
795:
790:
786:
782:
778:
771:
765:
764:
759:
754:
746:
742:
738:
734:
730:
723:
715:
711:
706:
701:
697:
693:
689:
685:
681:
674:
658:
652:
636:
630:
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3086:Hydatid cyst
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545:Epidemiology
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410:polycystin-2
406:polycystin-1
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252:(ADPKD) and
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137:(ADPKD) and
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2988:bile duct:
2902:Breast cyst
2622:Hypospadias
2319:MedlinePlus
2143:: 321–337.
1467:Kidney News
30:Other names
3299:Ciliopathy
3288:Categories
3272:See also:
3199:centrosome
3173:basal body
3145:Structural
2846:Keratocyst
2815:Pilar cyst
2617:Epispadias
2565:Megaureter
2427:Congenital
2350:Patient UK
2295:DiseasesDB
2068:2 November
2042:2 November
1882:2022-10-24
1812:2022-10-24
1448:2022-11-17
831:2015-07-31
598:2015-07-30
566:References
442:ultrasound
358:parenchyma
58:Nephrology
3213:Signaling
3152:receptor:
2661:Vestigial
2441:Abdominal
2330:eMedicine
2186:: 69–83.
1479:1555-905X
1371:: 69–83.
663:3 January
641:3 January
619:3 January
530:Prognosis
482:Tolvaptan
468:Treatment
428:Diagnosis
388:Mechanism
256:(ARPKD).
155:aneurysms
92:Treatment
53:Specialty
2872:Mucocele
2344:radio/69
2341:radio/68
2338:ped/1846
2335:med/1862
2212:21694932
2167:18947299
2124:21079243
1993:26171904
1944:Medscape
1925:70649130
1862:31361604
1788:26764208
1739:26538633
1690:32086281
1626:35664270
1577:31631001
1528:35570988
1397:21694932
1339:28192819
1268:Genomics
1204:22331271
1161:16449663
1112:27259053
1063:16816842
1011:17434405
973:12417947
965:16462154
919:25490692
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714:20382325
554:See also
526:drugs".
505:dialysis
350:in utero
303:dialysis
217:dialysis
174:sonogram
151:pancreas
65:Symptoms
2970:liver:
2669:Urachus
2609:Urethra
2591:Bladder
2377:Scholia
2289:D007690
2203:3108786
2158:2834200
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1617:9155228
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1311:Bibcode
1303:Science
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1253:1980516
1244:1017261
1196:1676697
1152:1367205
1103:4908191
1019:1700992
910:4409326
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705:2898711
434:CT scan
354:nephron
309:Genetic
219:and/or
215:(RRT):
116:) is a
3162:cargo:
2583:Pelvic
2552:Ureter
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446:liver
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382:PKHD1
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