72:
1115:
Kobayashi T, Muto S, Nemoto J, Miyata Y, Ishiharajima S, Hironaka M, Asano Y, Kusano E (June 2006). "Fanconi's syndrome and distal (type 1) renal tubular acidosis in a patient with primary Sjögren's syndrome with monoclonal gammopathy of undetermined significance".
1185:
1170:
371:
and related tubular conditions, Fanconi syndrome affects the transport of many different substances, so is not considered to be a defect in a specific channel, but a more general defect in the function of the proximal tubules.
987:
Irizarry-Alvarado JM, Dwyer JP, Brumble LM, Alvarez S, Mendez JC (March 2009). "Proximal tubular dysfunction associated with tenofovir and didanosine causing
Fanconi syndrome and diabetes insipidus: a report of 3 cases".
729:
Vilasi A, Cutillas PR, Maher AD, Zirah SF, Capasso G, Norden AW, Holmes E, Nicholson JK, Unwin RJ (August 2007). "Combined proteomic and metabonomic studies in three genetic forms of the renal
Fanconi syndrome".
592:
1296:
809:
Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT (March 2014).
766:
765:
Assmann N, Dettmer K, Simbuerger JM, Broeker C, Nuernberger N, Renner K, Courtneidge H, Klootwijk ED, Duerkop A, Hall A, Kleta R, Oefner PJ, Reichold M, Reinders J (May 2016).
510:
1377:
1763:
1624:
1582:
2328:
1485:
609:
1647:
1289:
962:
1945:
1382:
2399:
2098:
1986:
1282:
1309:
1960:
1955:
1877:
597:
1713:
483:(where tetracycline changes to form epitetracycline and anhydrotetracycline which damage the proximal tubule), and as a side effect of
974:
1465:
569:
464:
in the developing mouse kidney caused
Fanconi syndrome phenotypes including polyruia, polydipsia, glycosuria, and phosphaturia. The
1964:
231:
2149:
418:
2338:
1768:
622:
Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K (March 2010).
1849:
2154:
2013:
1981:
487:
in cases of pre-existing renal impairment. In the HIV population, Fanconi syndrome can develop secondary to the use of an
2091:
1652:
2125:
2055:
1387:
447:
and with beta oxidation of fatty acids. The result is a decrease in the ability of the mitochondria to produce ATP.
2214:
2045:
2024:
1696:
1305:
237:
Different forms of
Fanconi syndrome can affect different functions of the proximal tubule, and result in different
215:
2249:
2050:
1940:
1657:
1629:
1397:
414:
2404:
2350:
2244:
1344:
1339:
1200:
227:
516:
Additionally, Fanconi syndrome can develop as a secondary or tertiary effect of certain autoimmune disorders.
1058:"Acquired fanconi syndrome with osteomalacia secondary to monoclonal gammopathy of undetermined significance"
975:
Tenofovir (Viread) Associated with Mild Kidney
Function Impairment, but not Clinically Relevant Renal Disease
958:
2254:
2084:
1845:
1510:
238:
219:
2290:
2204:
2196:
2161:
2144:
1839:
1708:
1490:
278:
242:
2313:
2234:
1994:
1429:
444:
175:
2318:
2184:
1855:
1805:
1560:
1317:
811:"The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a ÎČ cell phenotype"
532:
Treatment of children with
Fanconi syndrome mainly consists of replacement of substances lost in the
860:"Deep Sequencing in Microdissected Renal Tubules Identifies Nephron Segment-Specific Transcriptomes"
71:
2285:
2060:
1911:
1800:
1460:
1415:
1392:
1189:
1097:
680:
Cochat P, Pichault V, Bacchetta J, Dubourg L, Sabot JF, Saban C, Daudon M, Liutkus A (March 2010).
398:
223:
2409:
2376:
2333:
1795:
1718:
1685:
1354:
258:
2179:
2065:
1537:
1251:
1211:
1133:
1079:
1038:
997:
941:
889:
840:
791:
747:
711:
645:
425:
340:
171:
56:
2226:
2174:
1902:
1883:
1700:
1675:
1125:
1069:
1028:
931:
923:
879:
871:
830:
822:
781:
739:
701:
693:
635:
506:
336:
332:
Other features of the generalized proximal tubular dysfunction of the
Fanconi syndrome are:
129:
94:
456:, a gene encoding a transcription factor, causes Fanconi syndrome in human. In the kidney,
2008:
2003:
1835:
1755:
1555:
1359:
439:
A recently described form of this disease is due to a mutation in the peroxisomal protein
368:
356:
266:
663:
1274:
2366:
2239:
2209:
2115:
2107:
1915:
1869:
1680:
1619:
1349:
1056:
Hashimoto T, Arakawa K, Ohta Y, Suehiro T, Uesugi N, Nakayama M, Tsuchihashi T (2007).
936:
911:
884:
835:
810:
706:
681:
557:
500:
488:
326:
311:
31:
17:
1194:
2393:
2345:
2280:
1950:
1809:
1742:
1597:
1074:
1057:
553:
545:
480:
429:
402:
191:
65:
2371:
2361:
2323:
1786:
1602:
1532:
1527:
1470:
549:
410:
305:
250:
187:
151:
1262:
859:
826:
1205:
786:
2357:
2136:
1935:
1778:
1246:
743:
443:. This mutation misdirects the EHHADH to the mitochondria. This interferes with
406:
376:
350:
321:
295:
262:
211:
1216:
524:
Urine routine, might not be completely reliable but is an important indicator.
2029:
1998:
1790:
1667:
1639:
1407:
1321:
1179:
927:
697:
496:
391:
380:
345:
291:
199:
179:
61:
912:"Hnf4a deletion in the mouse kidney phenocopies Fanconi renotubular syndrome"
2275:
2270:
1925:
1574:
1570:
1519:
1505:
1257:
1222:
767:"Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy"
668:
492:
484:
254:
207:
203:
1137:
1083:
1042:
1001:
945:
893:
875:
844:
795:
751:
715:
649:
640:
623:
218:(PCT), which is the first part of the tubule to process fluid after it is
162:. The syndrome can be caused by various underlying congenital or acquired
1920:
1865:
1831:
1819:
1746:
1733:
1481:
1439:
433:
316:
287:
167:
147:
1162:
1823:
1547:
1477:
1452:
1443:
1369:
573:
301:
246:
195:
163:
155:
1033:
1016:
624:"A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome"
2295:
1611:
1330:
1174:
1129:
440:
159:
468:
mutant kidney showed a defect in the formation of proximal tubules.
533:
452:
183:
2076:
1227:
2080:
1278:
460:
is expressed in the proximal tubules specifically. Deletion of
1015:
Barbier O, Jacquillet G, Tauc M, Cougnon M, Poujeol P (2005).
283:
The clinical features of proximal renal tubular acidosis are:
214:). Fanconi syndrome affects the proximal tubules, namely, the
910:
Marable SS, Chung E, Adam M, Potter SS, Park JS (July 2018).
100:
556:, contributed to its study. It should not be confused with
118:
112:
401:(a genetically inherited condition of copper metabolism),
394:
is the most common cause of
Fanconi syndrome in children.
375:
Different diseases underlie
Fanconi syndrome; they can be
135:
1017:"Effect of heavy metals on, and handling by, the kidney"
241:. The loss of bicarbonate results in type 2 or proximal
682:"Nephrolithiasis related to inborn metabolic diseases"
476:
It is possible to acquire this disease later in life.
245:. The loss of phosphate results in the bone diseases
138:
132:
115:
109:
103:
97:
1152:
2306:
2263:
2225:
2195:
2135:
2114:
2038:
1980:
1910:
1900:
1864:
1818:
1777:
1754:
1741:
1731:
1694:
1666:
1638:
1610:
1595:
1569:
1546:
1518:
1503:
1451:
1437:
1428:
1406:
1368:
1329:
1316:
1237:
1156:
106:
55:
47:
42:
511:monoclonal gammopathy of undetermined significance
732:American Journal of Physiology. Renal Physiology
450:It was shown that a specific mutation (R76W) of
1378:3-hydroxy-3-methylglutaryl-CoA lyase deficiency
552:, although various other scientists, including
1764:6-Pyruvoyltetrahydropterin synthase deficiency
2092:
1290:
864:Journal of the American Society of Nephrology
858:Lee JW, Chou CL, Knepper MA (November 2015).
8:
1648:2-Methylbutyryl-CoA dehydrogenase deficiency
261:levels), because phosphate is necessary for
1946:Carbamoyl phosphate synthetase I deficiency
1383:3-Methylcrotonyl-CoA carboxylase deficiency
178:. It results in various small molecules of
2099:
2085:
2077:
1907:
1751:
1738:
1607:
1515:
1448:
1434:
1326:
1297:
1283:
1275:
1153:
70:
39:
1073:
1032:
935:
883:
834:
785:
705:
639:
1625:Isobutyryl-CoA dehydrogenase deficiency
585:
1961:Ornithine transcarbamylase deficiency
1956:N-Acetylglutamate synthase deficiency
905:
903:
7:
2329:AbderhaldenâKaufmannâLignac syndrome
1878:Dopamine beta hydroxylase deficiency
612:at Merck Manual Home Health Handbook
1714:Methylmalonyl-CoA mutase deficiency
628:The New England Journal of Medicine
25:
1466:Glutathione synthetase deficiency
977:, hivandhepatitis.com, 2008-10-14
963:U.S. Food and Drug Administration
570:Familial renal disease in animals
479:Causes include ingesting expired
265:in children and even for ongoing
230:(pars recta), which leads to the
1075:10.2169/internalmedicine.46.1882
536:(mainly fluid and bicarbonate).
503:also leads to Fanconi syndrome.
232:descending limb of loop of Henle
128:
93:
2400:Amino acid metabolism disorders
419:hereditary fructose intolerance
1769:Tetrahydrobiopterin deficiency
513:can also cause the condition.
1:
2014:Lysinuric protein intolerance
1388:3-Methylglutaconic aciduria 1
827:10.1136/jmedgenet-2013-102066
1653:Beta-ketothiolase deficiency
787:10.1016/j.celrep.2016.04.037
598:Dorland's Medical Dictionary
397:Other recognised causes are
2126:Template:Glomerular disease
2056:Ethylmalonic encephalopathy
815:Journal of Medical Genetics
744:10.1152/ajprenal.00095.2007
2426:
2215:Balkan endemic nephropathy
2046:2-Hydroxyglutaric aciduria
2025:Oculocerebrorenal syndrome
276:
216:proximal convoluted tubule
29:
2250:Renovascular hypertension
2051:Aminoacylase 1 deficiency
1941:Argininosuccinic aciduria
1850:HermanskyâPudlak syndrome
1658:Maple syrup urine disease
1630:Maple syrup urine disease
1398:Maple syrup urine disease
928:10.1172/jci.insight.97497
698:10.1007/s00467-008-1085-6
415:glycogen storage diseases
2351:Renal papillary necrosis
2245:Hypertensive nephropathy
1340:Glutaric acidemia type 1
959:Viread Label Information
572:for Fanconi syndrome in
228:proximal straight tubule
30:Not to be confused with
2255:Renal cortical necrosis
1846:Oculocutaneous albinism
18:Fanconi's Syndrome
2291:Chronic kidney disease
2205:Interstitial nephritis
2162:Acute tubular necrosis
2145:Renal tubular acidosis
1965:translocase deficiency
1709:Methylmalonic acidemia
1491:Glycine encephalopathy
1102:The Medical Dictionary
876:10.1681/ASN.2014111067
560:, a separate disease.
279:renal tubular acidosis
243:renal tubular acidosis
182:being passed into the
176:adverse drug reactions
2314:Analgesic nephropathy
2235:Renal artery stenosis
1995:Solute carrier family
1310:amino acid metabolism
641:10.1056/NEJMoa0905647
445:respiratory complex I
2319:Renal osteodystrophy
1856:Waardenburg syndrome
1806:Tyrosinemia type III
1561:Prolidase deficiency
686:Pediatric Nephrology
253:(even with adequate
2286:Acute renal failure
2061:Fumarase deficiency
1801:Tyrosinemia type II
1461:D-Glyceric acidemia
1416:Hypertryptophanemia
1393:Isovaleric acidemia
1118:Clinical Nephrology
491:regimen containing
170:(for example, from
2377:Reflux nephropathy
2334:Diabetes insipidus
2116:Glomerular disease
1796:Tyrosinemia type I
1719:Propionic acidemia
1686:Hypermethioninemia
1355:Pipecolic acidemia
1238:External resources
1098:"Fanconi Syndrome"
1021:Nephron Physiology
593:"Fanconi syndrome"
544:It is named after
304:(in children) and
172:toxic heavy metals
86:Fanconi's syndrome
51:Fanconi's syndrome
2387:
2386:
2264:General syndromes
2185:Liddle's syndrome
2180:Gitelman syndrome
2074:
2073:
2066:Trimethylaminuria
1976:
1975:
1972:
1971:
1896:
1895:
1892:
1891:
1727:
1726:
1591:
1590:
1538:Urocanic aciduria
1499:
1498:
1424:
1423:
1272:
1271:
1062:Internal Medicine
1034:10.1159/000083981
965:(FDA), 2008-04-11
341:hyperphosphaturia
300:Hypophosphatemic
186:instead of being
79:
78:
37:Medical condition
16:(Redirected from
2417:
2175:Bartter syndrome
2170:Fanconi syndrome
2101:
2094:
2087:
2078:
2021:Fanconi syndrome
1908:
1884:Brunner syndrome
1752:
1739:
1676:Cystathioninuria
1608:
1516:
1449:
1435:
1327:
1299:
1292:
1285:
1276:
1154:
1142:
1141:
1130:10.5414/CNP65427
1112:
1106:
1105:
1094:
1088:
1087:
1077:
1053:
1047:
1046:
1036:
1012:
1006:
1005:
984:
978:
972:
966:
956:
950:
949:
939:
907:
898:
897:
887:
855:
849:
848:
838:
806:
800:
799:
789:
780:(7): 1423â1429.
771:
762:
756:
755:
726:
720:
719:
709:
677:
671:
664:Fanconi Syndrome
660:
654:
653:
643:
619:
613:
610:Fanconi Syndrome
607:
601:
590:
507:Multiple myeloma
399:Wilson's disease
337:Hypophosphatemia
263:bone development
154:in the proximal
145:
144:
141:
140:
137:
134:
125:
124:
121:
120:
117:
114:
111:
108:
105:
102:
99:
92:
82:Fanconi syndrome
75:
74:
43:Fanconi syndrome
40:
21:
2425:
2424:
2420:
2419:
2418:
2416:
2415:
2414:
2405:Kidney diseases
2390:
2389:
2388:
2383:
2302:
2259:
2221:
2191:
2131:
2110:
2105:
2075:
2070:
2034:
2009:Iminoglycinuria
2004:Hartnup disease
1985:
1968:
1918:
1888:
1860:
1836:Ocular albinism
1814:
1773:
1756:Phenylketonuria
1723:
1690:
1662:
1634:
1601:
1587:
1565:
1556:Hyperprolinemia
1542:
1511:α-ketoglutarate
1509:
1495:
1486:GAMT deficiency
1420:
1402:
1364:
1360:Saccharopinuria
1333:/straight chain
1312:
1303:
1273:
1268:
1267:
1233:
1232:
1165:
1151:
1146:
1145:
1114:
1113:
1109:
1096:
1095:
1091:
1055:
1054:
1050:
1014:
1013:
1009:
990:The AIDS Reader
986:
985:
981:
973:
969:
957:
953:
909:
908:
901:
870:(11): 2669â77.
857:
856:
852:
808:
807:
803:
769:
764:
763:
759:
728:
727:
723:
679:
678:
674:
661:
657:
621:
620:
616:
608:
604:
591:
587:
582:
566:
542:
530:
522:
474:
389:
383:, or acquired.
369:Hartnup disease
367:In contrast to
365:
357:Hyperuricosuria
281:
275:
267:bone metabolism
131:
127:
96:
90:
89:
69:
38:
35:
28:
27:Kidney disorder
23:
22:
15:
12:
11:
5:
2423:
2421:
2413:
2412:
2407:
2402:
2392:
2391:
2385:
2384:
2382:
2381:
2380:
2379:
2374:
2369:
2367:Hydronephrosis
2355:
2354:
2353:
2343:
2342:
2341:
2331:
2326:
2321:
2316:
2310:
2308:
2304:
2303:
2301:
2300:
2299:
2298:
2293:
2288:
2278:
2273:
2267:
2265:
2261:
2260:
2258:
2257:
2252:
2247:
2242:
2240:Renal ischemia
2237:
2231:
2229:
2223:
2222:
2220:
2219:
2218:
2217:
2212:
2210:Pyelonephritis
2201:
2199:
2193:
2192:
2190:
2189:
2188:
2187:
2182:
2177:
2172:
2164:
2159:
2158:
2157:
2152:
2141:
2139:
2133:
2132:
2130:
2129:
2120:
2118:
2112:
2111:
2108:Kidney disease
2106:
2104:
2103:
2096:
2089:
2081:
2072:
2071:
2069:
2068:
2063:
2058:
2053:
2048:
2042:
2040:
2036:
2035:
2033:
2032:
2027:
2017:
2016:
2011:
2006:
2001:
1991:
1989:
1978:
1977:
1974:
1973:
1970:
1969:
1967:
1958:
1953:
1948:
1943:
1938:
1933:
1931:
1930:
1929:
1916:Hyperammonemia
1905:
1898:
1897:
1894:
1893:
1890:
1889:
1887:
1886:
1880:
1874:
1872:
1870:Norepinephrine
1862:
1861:
1859:
1858:
1853:
1843:
1828:
1826:
1816:
1815:
1813:
1812:
1803:
1798:
1793:
1783:
1781:
1775:
1774:
1772:
1771:
1766:
1760:
1758:
1749:
1736:
1729:
1728:
1725:
1724:
1722:
1721:
1716:
1711:
1705:
1703:
1692:
1691:
1689:
1688:
1683:
1681:Homocystinuria
1678:
1672:
1670:
1664:
1663:
1661:
1660:
1655:
1650:
1644:
1642:
1636:
1635:
1633:
1632:
1627:
1622:
1620:Hypervalinemia
1616:
1614:
1605:
1593:
1592:
1589:
1588:
1586:
1585:
1579:
1577:
1567:
1566:
1564:
1563:
1558:
1552:
1550:
1544:
1543:
1541:
1540:
1535:
1530:
1524:
1522:
1513:
1501:
1500:
1497:
1496:
1494:
1493:
1488:
1474:
1473:
1468:
1463:
1457:
1455:
1446:
1432:
1426:
1425:
1422:
1421:
1419:
1418:
1412:
1410:
1404:
1403:
1401:
1400:
1395:
1390:
1385:
1380:
1374:
1372:
1366:
1365:
1363:
1362:
1357:
1352:
1350:Hyperlysinemia
1347:
1342:
1336:
1334:
1324:
1314:
1313:
1304:
1302:
1301:
1294:
1287:
1279:
1270:
1269:
1266:
1265:
1254:
1242:
1241:
1239:
1235:
1234:
1231:
1230:
1219:
1208:
1197:
1182:
1166:
1161:
1160:
1158:
1157:Classification
1150:
1149:External links
1147:
1144:
1143:
1107:
1089:
1048:
1007:
979:
967:
951:
899:
850:
801:
757:
738:(2): F456-67.
721:
672:
655:
634:(12): 1102â9.
614:
602:
584:
583:
581:
578:
577:
576:
565:
562:
558:Fanconi anemia
541:
538:
529:
526:
521:
518:
501:Lead poisoning
489:antiretroviral
473:
470:
426:Dent's disease
388:
385:
364:
361:
360:
359:
354:
353:/aminoaciduria
348:
343:
330:
329:
327:Hyperchloremia
324:
319:
314:
312:Growth failure
309:
298:
277:Main article:
274:
271:
194:(for example,
150:of inadequate
77:
76:
59:
53:
52:
49:
45:
44:
36:
32:Fanconi anemia
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
2422:
2411:
2408:
2406:
2403:
2401:
2398:
2397:
2395:
2378:
2375:
2373:
2370:
2368:
2365:
2364:
2363:
2359:
2356:
2352:
2349:
2348:
2347:
2346:Renal papilla
2344:
2340:
2337:
2336:
2335:
2332:
2330:
2327:
2325:
2322:
2320:
2317:
2315:
2312:
2311:
2309:
2305:
2297:
2294:
2292:
2289:
2287:
2284:
2283:
2282:
2281:Renal failure
2279:
2277:
2274:
2272:
2269:
2268:
2266:
2262:
2256:
2253:
2251:
2248:
2246:
2243:
2241:
2238:
2236:
2233:
2232:
2230:
2228:
2224:
2216:
2213:
2211:
2208:
2207:
2206:
2203:
2202:
2200:
2198:
2194:
2186:
2183:
2181:
2178:
2176:
2173:
2171:
2168:
2167:
2165:
2163:
2160:
2156:
2153:
2151:
2148:
2147:
2146:
2143:
2142:
2140:
2138:
2134:
2128:
2127:
2122:
2121:
2119:
2117:
2113:
2109:
2102:
2097:
2095:
2090:
2088:
2083:
2082:
2079:
2067:
2064:
2062:
2059:
2057:
2054:
2052:
2049:
2047:
2044:
2043:
2041:
2037:
2031:
2028:
2026:
2022:
2019:
2018:
2015:
2012:
2010:
2007:
2005:
2002:
2000:
1996:
1993:
1992:
1990:
1988:
1983:
1979:
1966:
1962:
1959:
1957:
1954:
1952:
1951:Citrullinemia
1949:
1947:
1944:
1942:
1939:
1937:
1934:
1932:
1927:
1924:
1923:
1922:
1917:
1913:
1909:
1906:
1904:
1899:
1885:
1881:
1879:
1876:
1875:
1873:
1871:
1867:
1863:
1857:
1854:
1851:
1847:
1844:
1841:
1837:
1833:
1830:
1829:
1827:
1825:
1821:
1817:
1811:
1810:Hawkinsinuria
1807:
1804:
1802:
1799:
1797:
1794:
1792:
1788:
1785:
1784:
1782:
1780:
1776:
1770:
1767:
1765:
1762:
1761:
1759:
1757:
1753:
1750:
1748:
1744:
1743:Phenylalanine
1740:
1737:
1735:
1730:
1720:
1717:
1715:
1712:
1710:
1707:
1706:
1704:
1702:
1698:
1693:
1687:
1684:
1682:
1679:
1677:
1674:
1673:
1671:
1669:
1665:
1659:
1656:
1654:
1651:
1649:
1646:
1645:
1643:
1641:
1637:
1631:
1628:
1626:
1623:
1621:
1618:
1617:
1615:
1613:
1609:
1606:
1604:
1599:
1598:propionyl-CoA
1594:
1584:
1581:
1580:
1578:
1576:
1572:
1568:
1562:
1559:
1557:
1554:
1553:
1551:
1549:
1545:
1539:
1536:
1534:
1531:
1529:
1526:
1525:
1523:
1521:
1517:
1514:
1512:
1507:
1502:
1492:
1489:
1487:
1483:
1479:
1476:
1475:
1472:
1469:
1467:
1464:
1462:
1459:
1458:
1456:
1454:
1450:
1447:
1445:
1441:
1436:
1433:
1431:
1427:
1417:
1414:
1413:
1411:
1409:
1405:
1399:
1396:
1394:
1391:
1389:
1386:
1384:
1381:
1379:
1376:
1375:
1373:
1371:
1367:
1361:
1358:
1356:
1353:
1351:
1348:
1346:
1343:
1341:
1338:
1337:
1335:
1332:
1328:
1325:
1323:
1319:
1315:
1311:
1307:
1300:
1295:
1293:
1288:
1286:
1281:
1280:
1277:
1264:
1260:
1259:
1255:
1253:
1249:
1248:
1244:
1243:
1240:
1236:
1229:
1225:
1224:
1220:
1218:
1214:
1213:
1209:
1207:
1203:
1202:
1198:
1196:
1192:
1191:
1187:
1183:
1181:
1177:
1176:
1172:
1168:
1167:
1164:
1159:
1155:
1148:
1139:
1135:
1131:
1127:
1124:(6): 427â32.
1123:
1119:
1111:
1108:
1103:
1099:
1093:
1090:
1085:
1081:
1076:
1071:
1067:
1063:
1059:
1052:
1049:
1044:
1040:
1035:
1030:
1027:(4): 105â10.
1026:
1022:
1018:
1011:
1008:
1003:
999:
996:(3): 114â21.
995:
991:
983:
980:
976:
971:
968:
964:
960:
955:
952:
947:
943:
938:
933:
929:
925:
921:
917:
913:
906:
904:
900:
895:
891:
886:
881:
877:
873:
869:
865:
861:
854:
851:
846:
842:
837:
832:
828:
824:
820:
816:
812:
805:
802:
797:
793:
788:
783:
779:
775:
768:
761:
758:
753:
749:
745:
741:
737:
733:
725:
722:
717:
713:
708:
703:
699:
695:
692:(3): 415â24.
691:
687:
683:
676:
673:
670:
666:
665:
659:
656:
651:
647:
642:
637:
633:
629:
625:
618:
615:
611:
606:
603:
600:
599:
594:
589:
586:
579:
575:
571:
568:
567:
563:
561:
559:
555:
554:George Lignac
551:
547:
546:Guido Fanconi
539:
537:
535:
527:
525:
519:
517:
514:
512:
508:
504:
502:
498:
494:
490:
486:
482:
481:tetracyclines
477:
471:
469:
467:
463:
459:
455:
454:
448:
446:
442:
437:
435:
431:
430:Lowe syndrome
427:
422:
420:
416:
412:
408:
404:
403:Lowe syndrome
400:
395:
393:
386:
384:
382:
378:
373:
370:
362:
358:
355:
352:
349:
347:
344:
342:
338:
335:
334:
333:
328:
325:
323:
320:
318:
315:
313:
310:
307:
303:
299:
297:
293:
289:
286:
285:
284:
280:
272:
270:
268:
264:
260:
256:
252:
248:
244:
240:
239:complications
235:
233:
229:
225:
221:
217:
213:
209:
205:
201:
197:
193:
192:tubular fluid
189:
185:
181:
177:
173:
169:
165:
161:
157:
156:renal tubules
153:
149:
143:
123:
87:
83:
73:
67:
66:endocrinology
63:
60:
58:
54:
50:
46:
41:
33:
19:
2372:Pyonephrosis
2324:Nephroptosis
2197:Interstitium
2169:
2123:
2020:
1903:oxaloacetate
1787:Alkaptonuria
1603:succinyl-CoA
1533:Histidinemia
1528:Carnosinemia
1471:Sarcosinemia
1306:Inborn error
1256:
1245:
1221:
1210:
1199:
1184:
1169:
1121:
1117:
1110:
1101:
1092:
1068:(5): 241â5.
1065:
1061:
1051:
1024:
1020:
1010:
993:
989:
982:
970:
954:
919:
915:
867:
863:
853:
821:(3): 165â9.
818:
814:
804:
777:
774:Cell Reports
773:
760:
735:
731:
724:
689:
685:
675:
662:
658:
631:
627:
617:
605:
596:
588:
550:pediatrician
543:
531:
523:
515:
505:
478:
475:
465:
461:
457:
451:
449:
438:
423:
411:galactosemia
396:
390:
374:
366:
331:
306:osteomalacia
282:
273:Presentation
251:osteomalacia
236:
222:through the
152:reabsorption
85:
81:
80:
2358:Major calyx
2339:Nephrogenic
1936:Argininemia
1779:Tyrosinemia
1247:MedlinePlus
916:JCI Insight
424:Two forms,
407:tyrosinemia
351:Proteinuria
322:Hypokalemia
308:(in adults)
296:dehydration
269:in adults.
212:bicarbonate
200:amino acids
48:Other names
2394:Categories
2030:Cystinosis
1999:Cystinuria
1912:Urea cycle
1791:Ochronosis
1668:Methionine
1640:Isoleucine
1408:Tryptophan
1322:acetyl-CoA
1212:DiseasesDB
580:References
548:, a Swiss
497:didanosine
409:(type I),
392:Cystinosis
381:congenital
346:Glycosuria
292:polydipsia
226:, and the
224:glomerulus
188:reabsorbed
180:metabolism
62:Nephrology
2410:Syndromes
2276:Nephrosis
2271:Nephritis
1987:IE of RTT
1982:Transport
1926:aspartate
1882:reverse:
1575:glutamine
1571:Glutamate
1520:Histidine
1506:glutamate
1258:eMedicine
1223:SNOMED CT
669:eMedicine
528:Treatment
520:Diagnosis
493:tenofovir
485:tenofovir
387:Inherited
377:inherited
255:vitamin D
208:phosphate
204:uric acid
190:from the
174:), or by
91:English:
57:Specialty
2227:Vascular
2166:Genetic
2150:proximal
1921:arginine
1866:Tyrosine
1832:Albinism
1820:Tyrosine
1747:tyrosine
1734:fumarate
1695:General
1482:Creatine
1440:pyruvate
1228:40488004
1138:16792139
1084:17329920
1043:15722646
1002:19334328
946:30046000
894:25817355
845:24285859
796:27160910
752:17494094
716:19156444
650:20335586
574:Basenjis
564:See also
472:Acquired
434:X linked
317:Acidosis
288:Polyuria
220:filtered
168:toxicity
164:diseases
148:syndrome
2137:Tubules
1824:Melanin
1548:Proline
1478:Glycine
1453:Glycine
1444:citrate
1370:Leucine
1263:ped/756
1206:D005198
937:6124415
885:4625681
836:3932761
707:2810370
302:rickets
259:calcium
247:rickets
196:glucose
158:of the
146:) is a
2362:pelvis
2296:Uremia
2155:distal
1612:Valine
1583:SSADHD
1345:type 2
1331:Lysine
1252:000333
1136:
1082:
1041:
1000:
944:
934:
922:(14).
892:
882:
843:
833:
794:
750:
714:
704:
648:
540:Eponym
441:EHHADH
432:, are
417:, and
363:Causes
210:, and
160:kidney
68:
2307:Other
2039:Other
1217:11687
1195:270.0
1180:E72.0
770:(PDF)
534:urine
466:Hnf4a
462:Hnf4a
458:HNF4A
453:HNF4A
184:urine
166:, by
2124:See
1201:MeSH
1190:9-CM
1134:PMID
1080:PMID
1039:PMID
998:PMID
942:PMID
890:PMID
841:PMID
792:PMID
748:PMID
712:PMID
646:PMID
495:and
428:and
294:and
257:and
249:and
1308:of
1186:ICD
1171:ICD
1126:doi
1070:doi
1029:doi
932:PMC
924:doi
880:PMC
872:doi
831:PMC
823:doi
782:doi
740:doi
736:293
702:PMC
694:doi
667:at
636:doi
632:362
595:at
509:or
84:or
2396::
2023::
1997::
1901:Gâ
1834::
1732:Gâ
1701:OA
1697:BC
1596:Gâ
1504:Gâ
1484::
1438:Gâ
1261::
1250::
1226::
1215::
1204::
1193::
1178::
1175:10
1132:.
1122:65
1120:.
1100:.
1078:.
1066:46
1064:.
1060:.
1037:.
1025:99
1023:.
1019:.
994:19
992:.
961:,
940:.
930:.
918:.
914:.
902:^
888:.
878:.
868:26
866:.
862:.
839:.
829:.
819:51
817:.
813:.
790:.
778:15
776:.
772:.
746:.
734:.
710:.
700:.
690:25
688:.
684:.
644:.
630:.
626:.
499:.
436:.
421:.
413:,
405:,
379:,
290:,
234:.
206:,
202:,
198:,
142:-/
126:,
113:oÊ
101:ÉË
64:,
2360:/
2100:e
2093:t
2086:v
1984:/
1963:/
1928:)
1919:(
1914:/
1868:â
1852:)
1848:(
1842:)
1840:1
1838:(
1822:â
1808:/
1789:/
1745:/
1699:/
1600:â
1573:/
1508:â
1480:â
1442:â
1430:G
1320:â
1318:K
1298:e
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1173:-
1163:D
1140:.
1128::
1104:.
1086:.
1072::
1045:.
1031::
1004:.
948:.
926::
920:3
896:.
874::
847:.
825::
798:.
784::
754:.
742::
718:.
696::
652:.
638::
339:/
139:n
136:ĂŠ
133:f
130:/
122:/
119:i
116:n
110:k
107:Ë
104:n
98:f
95:/
88:(
34:.
20:)
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