61:
1104:
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".
1174:
1159:
360:
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.
976:
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".
718:
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".
581:
1285:
798:
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).
755:
754:
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).
499:
1366:
1752:
1613:
1571:
2317:
1474:
598:
1636:
1278:
951:
1934:
1371:
2388:
2087:
1975:
1271:
1298:
1949:
1944:
1866:
586:
1702:
472:(where tetracycline changes to form epitetracycline and anhydrotetracycline which damage the proximal tubule), and as a side effect of
963:
1454:
558:
453:
in the developing mouse kidney caused
Fanconi syndrome phenotypes including polyruia, polydipsia, glycosuria, and phosphaturia. The
1953:
220:
2138:
407:
2327:
1757:
611:
Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K (March 2010).
1838:
2143:
2002:
1970:
476:
in cases of pre-existing renal impairment. In the HIV population, Fanconi syndrome can develop secondary to the use of an
2080:
1641:
2114:
2044:
1376:
436:
and with beta oxidation of fatty acids. The result is a decrease in the ability of the mitochondria to produce ATP.
2203:
2034:
2013:
1685:
1294:
226:
Different forms of
Fanconi syndrome can affect different functions of the proximal tubule, and result in different
204:
2238:
2039:
1929:
1646:
1618:
1386:
403:
2393:
2339:
2233:
1333:
1328:
1189:
216:
505:
Additionally, Fanconi syndrome can develop as a secondary or tertiary effect of certain autoimmune disorders.
1047:"Acquired fanconi syndrome with osteomalacia secondary to monoclonal gammopathy of undetermined significance"
964:
Tenofovir (Viread) Associated with Mild Kidney
Function Impairment, but not Clinically Relevant Renal Disease
947:
2243:
2073:
1834:
1499:
227:
208:
2279:
2193:
2185:
2150:
2133:
1828:
1697:
1479:
267:
231:
2302:
2223:
1983:
1418:
433:
164:
2307:
2173:
1844:
1794:
1549:
1306:
800:"The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a ÎČ cell phenotype"
521:
Treatment of children with
Fanconi syndrome mainly consists of replacement of substances lost in the
849:"Deep Sequencing in Microdissected Renal Tubules Identifies Nephron Segment-Specific Transcriptomes"
60:
2274:
2049:
1900:
1789:
1449:
1404:
1381:
1178:
1086:
669:
Cochat P, Pichault V, Bacchetta J, Dubourg L, Sabot JF, Saban C, Daudon M, Liutkus A (March 2010).
387:
212:
2398:
2365:
2322:
1784:
1707:
1674:
1343:
247:
2168:
2054:
1526:
1240:
1200:
1122:
1068:
1027:
986:
930:
878:
829:
780:
736:
700:
634:
414:
329:
160:
45:
2215:
2163:
1891:
1872:
1689:
1664:
1114:
1058:
1017:
920:
912:
868:
860:
819:
811:
770:
728:
690:
682:
624:
495:
325:
321:
Other features of the generalized proximal tubular dysfunction of the
Fanconi syndrome are:
118:
83:
445:, a gene encoding a transcription factor, causes Fanconi syndrome in human. In the kidney,
1997:
1992:
1824:
1744:
1544:
1348:
428:
A recently described form of this disease is due to a mutation in the peroxisomal protein
357:
345:
255:
652:
1263:
2355:
2228:
2198:
2104:
2096:
1904:
1858:
1669:
1608:
1338:
1045:
Hashimoto T, Arakawa K, Ohta Y, Suehiro T, Uesugi N, Nakayama M, Tsuchihashi T (2007).
925:
900:
873:
824:
799:
695:
670:
546:
489:
477:
315:
300:
20:
1183:
2382:
2334:
2269:
1939:
1798:
1731:
1586:
1063:
1046:
542:
534:
469:
418:
391:
180:
54:
2360:
2350:
2312:
1775:
1591:
1521:
1516:
1459:
538:
399:
294:
239:
176:
140:
1251:
848:
815:
1194:
775:
2346:
2125:
1924:
1767:
1235:
732:
432:. This mutation misdirects the EHHADH to the mitochondria. This interferes with
395:
365:
339:
310:
284:
251:
200:
1205:
513:
Urine routine, might not be completely reliable but is an important indicator.
2018:
1987:
1779:
1656:
1628:
1396:
1310:
1168:
916:
686:
485:
380:
369:
334:
280:
188:
168:
50:
901:"Hnf4a deletion in the mouse kidney phenocopies Fanconi renotubular syndrome"
2264:
2259:
1914:
1563:
1559:
1508:
1494:
1246:
1211:
756:"Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy"
657:
481:
473:
243:
196:
192:
1126:
1072:
1031:
990:
934:
882:
864:
833:
784:
740:
704:
638:
629:
612:
207:(PCT), which is the first part of the tubule to process fluid after it is
151:. The syndrome can be caused by various underlying congenital or acquired
1909:
1854:
1820:
1808:
1735:
1722:
1470:
1428:
422:
305:
276:
156:
136:
1151:
1812:
1536:
1466:
1441:
1432:
1358:
562:
290:
235:
184:
152:
144:
1022:
1005:
613:"A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome"
2284:
1600:
1319:
1163:
1118:
429:
148:
457:
mutant kidney showed a defect in the formation of proximal tubules.
522:
441:
172:
2065:
1216:
2069:
1267:
449:
is expressed in the proximal tubules specifically. Deletion of
1004:
Barbier O, Jacquillet G, Tauc M, Cougnon M, Poujeol P (2005).
272:
The clinical features of proximal renal tubular acidosis are:
203:). Fanconi syndrome affects the proximal tubules, namely, the
899:
Marable SS, Chung E, Adam M, Potter SS, Park JS (July 2018).
89:
545:, contributed to its study. It should not be confused with
107:
101:
390:(a genetically inherited condition of copper metabolism),
383:
is the most common cause of
Fanconi syndrome in children.
364:
Different diseases underlie
Fanconi syndrome; they can be
124:
1006:"Effect of heavy metals on, and handling by, the kidney"
230:. The loss of bicarbonate results in type 2 or proximal
671:"Nephrolithiasis related to inborn metabolic diseases"
465:
It is possible to acquire this disease later in life.
234:. The loss of phosphate results in the bone diseases
127:
121:
104:
98:
92:
86:
1141:
2295:
2252:
2214:
2184:
2124:
2103:
2027:
1969:
1899:
1889:
1853:
1807:
1766:
1743:
1730:
1720:
1683:
1655:
1627:
1599:
1584:
1558:
1535:
1507:
1492:
1440:
1426:
1417:
1395:
1357:
1318:
1305:
1226:
1145:
95:
44:
36:
31:
500:monoclonal gammopathy of undetermined significance
721:American Journal of Physiology. Renal Physiology
439:It was shown that a specific mutation (R76W) of
1367:3-hydroxy-3-methylglutaryl-CoA lyase deficiency
541:, although various other scientists, including
1753:6-Pyruvoyltetrahydropterin synthase deficiency
2081:
1279:
853:Journal of the American Society of Nephrology
847:Lee JW, Chou CL, Knepper MA (November 2015).
8:
1637:2-Methylbutyryl-CoA dehydrogenase deficiency
250:levels), because phosphate is necessary for
1935:Carbamoyl phosphate synthetase I deficiency
1372:3-Methylcrotonyl-CoA carboxylase deficiency
167:. It results in various small molecules of
2088:
2074:
2066:
1896:
1740:
1727:
1596:
1504:
1437:
1423:
1315:
1286:
1272:
1264:
1142:
59:
28:
1062:
1021:
924:
872:
823:
774:
694:
628:
1614:Isobutyryl-CoA dehydrogenase deficiency
574:
1950:Ornithine transcarbamylase deficiency
1945:N-Acetylglutamate synthase deficiency
894:
892:
7:
2318:AbderhaldenâKaufmannâLignac syndrome
1867:Dopamine beta hydroxylase deficiency
601:at Merck Manual Home Health Handbook
1703:Methylmalonyl-CoA mutase deficiency
617:The New England Journal of Medicine
14:
1455:Glutathione synthetase deficiency
966:, hivandhepatitis.com, 2008-10-14
952:U.S. Food and Drug Administration
559:Familial renal disease in animals
468:Causes include ingesting expired
254:in children and even for ongoing
219:(pars recta), which leads to the
1064:10.2169/internalmedicine.46.1882
525:(mainly fluid and bicarbonate).
492:also leads to Fanconi syndrome.
221:descending limb of loop of Henle
117:
82:
2389:Amino acid metabolism disorders
408:hereditary fructose intolerance
1758:Tetrahydrobiopterin deficiency
502:can also cause the condition.
1:
2003:Lysinuric protein intolerance
1377:3-Methylglutaconic aciduria 1
816:10.1136/jmedgenet-2013-102066
1642:Beta-ketothiolase deficiency
776:10.1016/j.celrep.2016.04.037
587:Dorland's Medical Dictionary
386:Other recognised causes are
2115:Template:Glomerular disease
2045:Ethylmalonic encephalopathy
804:Journal of Medical Genetics
733:10.1152/ajprenal.00095.2007
2415:
2204:Balkan endemic nephropathy
2035:2-Hydroxyglutaric aciduria
2014:Oculocerebrorenal syndrome
265:
205:proximal convoluted tubule
18:
2239:Renovascular hypertension
2040:Aminoacylase 1 deficiency
1930:Argininosuccinic aciduria
1839:HermanskyâPudlak syndrome
1647:Maple syrup urine disease
1619:Maple syrup urine disease
1387:Maple syrup urine disease
917:10.1172/jci.insight.97497
687:10.1007/s00467-008-1085-6
404:glycogen storage diseases
2340:Renal papillary necrosis
2234:Hypertensive nephropathy
1329:Glutaric acidemia type 1
948:Viread Label Information
561:for Fanconi syndrome in
217:proximal straight tubule
19:Not to be confused with
2244:Renal cortical necrosis
1835:Oculocutaneous albinism
2280:Chronic kidney disease
2194:Interstitial nephritis
2151:Acute tubular necrosis
2134:Renal tubular acidosis
1954:translocase deficiency
1698:Methylmalonic acidemia
1480:Glycine encephalopathy
1091:The Medical Dictionary
865:10.1681/ASN.2014111067
549:, a separate disease.
268:renal tubular acidosis
232:renal tubular acidosis
171:being passed into the
165:adverse drug reactions
2303:Analgesic nephropathy
2224:Renal artery stenosis
1984:Solute carrier family
1299:amino acid metabolism
630:10.1056/NEJMoa0905647
434:respiratory complex I
2308:Renal osteodystrophy
1845:Waardenburg syndrome
1795:Tyrosinemia type III
1550:Prolidase deficiency
675:Pediatric Nephrology
242:(even with adequate
2275:Acute renal failure
2050:Fumarase deficiency
1790:Tyrosinemia type II
1450:D-Glyceric acidemia
1405:Hypertryptophanemia
1382:Isovaleric acidemia
1107:Clinical Nephrology
480:regimen containing
159:(for example, from
2366:Reflux nephropathy
2323:Diabetes insipidus
2105:Glomerular disease
1785:Tyrosinemia type I
1708:Propionic acidemia
1675:Hypermethioninemia
1344:Pipecolic acidemia
1227:External resources
1087:"Fanconi Syndrome"
1010:Nephron Physiology
582:"Fanconi syndrome"
533:It is named after
293:(in children) and
161:toxic heavy metals
75:Fanconi's syndrome
40:Fanconi's syndrome
2376:
2375:
2253:General syndromes
2174:Liddle's syndrome
2169:Gitelman syndrome
2063:
2062:
2055:Trimethylaminuria
1965:
1964:
1961:
1960:
1885:
1884:
1881:
1880:
1716:
1715:
1580:
1579:
1527:Urocanic aciduria
1488:
1487:
1413:
1412:
1261:
1260:
1051:Internal Medicine
1023:10.1159/000083981
954:(FDA), 2008-04-11
330:hyperphosphaturia
289:Hypophosphatemic
175:instead of being
68:
67:
26:Medical condition
2406:
2164:Bartter syndrome
2159:Fanconi syndrome
2090:
2083:
2076:
2067:
2010:Fanconi syndrome
1897:
1873:Brunner syndrome
1741:
1728:
1665:Cystathioninuria
1597:
1505:
1438:
1424:
1316:
1288:
1281:
1274:
1265:
1143:
1131:
1130:
1119:10.5414/CNP65427
1101:
1095:
1094:
1083:
1077:
1076:
1066:
1042:
1036:
1035:
1025:
1001:
995:
994:
973:
967:
961:
955:
945:
939:
938:
928:
896:
887:
886:
876:
844:
838:
837:
827:
795:
789:
788:
778:
769:(7): 1423â1429.
760:
751:
745:
744:
715:
709:
708:
698:
666:
660:
653:Fanconi Syndrome
649:
643:
642:
632:
608:
602:
599:Fanconi Syndrome
596:
590:
579:
496:Multiple myeloma
388:Wilson's disease
326:Hypophosphatemia
252:bone development
143:in the proximal
134:
133:
130:
129:
126:
123:
114:
113:
110:
109:
106:
103:
100:
97:
94:
91:
88:
81:
71:Fanconi syndrome
64:
63:
32:Fanconi syndrome
29:
2414:
2413:
2409:
2408:
2407:
2405:
2404:
2403:
2394:Kidney diseases
2379:
2378:
2377:
2372:
2291:
2248:
2210:
2180:
2120:
2099:
2094:
2064:
2059:
2023:
1998:Iminoglycinuria
1993:Hartnup disease
1974:
1957:
1907:
1877:
1849:
1825:Ocular albinism
1803:
1762:
1745:Phenylketonuria
1712:
1679:
1651:
1623:
1590:
1576:
1554:
1545:Hyperprolinemia
1531:
1500:α-ketoglutarate
1498:
1484:
1475:GAMT deficiency
1409:
1391:
1353:
1349:Saccharopinuria
1322:/straight chain
1301:
1292:
1262:
1257:
1256:
1222:
1221:
1154:
1140:
1135:
1134:
1103:
1102:
1098:
1085:
1084:
1080:
1044:
1043:
1039:
1003:
1002:
998:
979:The AIDS Reader
975:
974:
970:
962:
958:
946:
942:
898:
897:
890:
859:(11): 2669â77.
846:
845:
841:
797:
796:
792:
758:
753:
752:
748:
717:
716:
712:
668:
667:
663:
650:
646:
610:
609:
605:
597:
593:
580:
576:
571:
555:
531:
519:
511:
463:
378:
372:, or acquired.
358:Hartnup disease
356:In contrast to
354:
346:Hyperuricosuria
270:
264:
256:bone metabolism
120:
116:
85:
79:
78:
58:
27:
24:
17:
16:Kidney disorder
12:
11:
5:
2412:
2410:
2402:
2401:
2396:
2391:
2381:
2380:
2374:
2373:
2371:
2370:
2369:
2368:
2363:
2358:
2356:Hydronephrosis
2344:
2343:
2342:
2332:
2331:
2330:
2320:
2315:
2310:
2305:
2299:
2297:
2293:
2292:
2290:
2289:
2288:
2287:
2282:
2277:
2267:
2262:
2256:
2254:
2250:
2249:
2247:
2246:
2241:
2236:
2231:
2229:Renal ischemia
2226:
2220:
2218:
2212:
2211:
2209:
2208:
2207:
2206:
2201:
2199:Pyelonephritis
2190:
2188:
2182:
2181:
2179:
2178:
2177:
2176:
2171:
2166:
2161:
2153:
2148:
2147:
2146:
2141:
2130:
2128:
2122:
2121:
2119:
2118:
2109:
2107:
2101:
2100:
2097:Kidney disease
2095:
2093:
2092:
2085:
2078:
2070:
2061:
2060:
2058:
2057:
2052:
2047:
2042:
2037:
2031:
2029:
2025:
2024:
2022:
2021:
2016:
2006:
2005:
2000:
1995:
1990:
1980:
1978:
1967:
1966:
1963:
1962:
1959:
1958:
1956:
1947:
1942:
1937:
1932:
1927:
1922:
1920:
1919:
1918:
1905:Hyperammonemia
1894:
1887:
1886:
1883:
1882:
1879:
1878:
1876:
1875:
1869:
1863:
1861:
1859:Norepinephrine
1851:
1850:
1848:
1847:
1842:
1832:
1817:
1815:
1805:
1804:
1802:
1801:
1792:
1787:
1782:
1772:
1770:
1764:
1763:
1761:
1760:
1755:
1749:
1747:
1738:
1725:
1718:
1717:
1714:
1713:
1711:
1710:
1705:
1700:
1694:
1692:
1681:
1680:
1678:
1677:
1672:
1670:Homocystinuria
1667:
1661:
1659:
1653:
1652:
1650:
1649:
1644:
1639:
1633:
1631:
1625:
1624:
1622:
1621:
1616:
1611:
1609:Hypervalinemia
1605:
1603:
1594:
1582:
1581:
1578:
1577:
1575:
1574:
1568:
1566:
1556:
1555:
1553:
1552:
1547:
1541:
1539:
1533:
1532:
1530:
1529:
1524:
1519:
1513:
1511:
1502:
1490:
1489:
1486:
1485:
1483:
1482:
1477:
1463:
1462:
1457:
1452:
1446:
1444:
1435:
1421:
1415:
1414:
1411:
1410:
1408:
1407:
1401:
1399:
1393:
1392:
1390:
1389:
1384:
1379:
1374:
1369:
1363:
1361:
1355:
1354:
1352:
1351:
1346:
1341:
1339:Hyperlysinemia
1336:
1331:
1325:
1323:
1313:
1303:
1302:
1293:
1291:
1290:
1283:
1276:
1268:
1259:
1258:
1255:
1254:
1243:
1231:
1230:
1228:
1224:
1223:
1220:
1219:
1208:
1197:
1186:
1171:
1155:
1150:
1149:
1147:
1146:Classification
1139:
1138:External links
1136:
1133:
1132:
1096:
1078:
1037:
996:
968:
956:
940:
888:
839:
790:
746:
727:(2): F456-67.
710:
661:
644:
623:(12): 1102â9.
603:
591:
573:
572:
570:
567:
566:
565:
554:
551:
547:Fanconi anemia
530:
527:
518:
515:
510:
507:
490:Lead poisoning
478:antiretroviral
462:
459:
415:Dent's disease
377:
374:
353:
350:
349:
348:
343:
342:/aminoaciduria
337:
332:
319:
318:
316:Hyperchloremia
313:
308:
303:
301:Growth failure
298:
287:
266:Main article:
263:
260:
183:(for example,
139:of inadequate
66:
65:
48:
42:
41:
38:
34:
33:
25:
21:Fanconi anemia
15:
13:
10:
9:
6:
4:
3:
2:
2411:
2400:
2397:
2395:
2392:
2390:
2387:
2386:
2384:
2367:
2364:
2362:
2359:
2357:
2354:
2353:
2352:
2348:
2345:
2341:
2338:
2337:
2336:
2335:Renal papilla
2333:
2329:
2326:
2325:
2324:
2321:
2319:
2316:
2314:
2311:
2309:
2306:
2304:
2301:
2300:
2298:
2294:
2286:
2283:
2281:
2278:
2276:
2273:
2272:
2271:
2270:Renal failure
2268:
2266:
2263:
2261:
2258:
2257:
2255:
2251:
2245:
2242:
2240:
2237:
2235:
2232:
2230:
2227:
2225:
2222:
2221:
2219:
2217:
2213:
2205:
2202:
2200:
2197:
2196:
2195:
2192:
2191:
2189:
2187:
2183:
2175:
2172:
2170:
2167:
2165:
2162:
2160:
2157:
2156:
2154:
2152:
2149:
2145:
2142:
2140:
2137:
2136:
2135:
2132:
2131:
2129:
2127:
2123:
2117:
2116:
2111:
2110:
2108:
2106:
2102:
2098:
2091:
2086:
2084:
2079:
2077:
2072:
2071:
2068:
2056:
2053:
2051:
2048:
2046:
2043:
2041:
2038:
2036:
2033:
2032:
2030:
2026:
2020:
2017:
2015:
2011:
2008:
2007:
2004:
2001:
1999:
1996:
1994:
1991:
1989:
1985:
1982:
1981:
1979:
1977:
1972:
1968:
1955:
1951:
1948:
1946:
1943:
1941:
1940:Citrullinemia
1938:
1936:
1933:
1931:
1928:
1926:
1923:
1921:
1916:
1913:
1912:
1911:
1906:
1902:
1898:
1895:
1893:
1888:
1874:
1870:
1868:
1865:
1864:
1862:
1860:
1856:
1852:
1846:
1843:
1840:
1836:
1833:
1830:
1826:
1822:
1819:
1818:
1816:
1814:
1810:
1806:
1800:
1799:Hawkinsinuria
1796:
1793:
1791:
1788:
1786:
1783:
1781:
1777:
1774:
1773:
1771:
1769:
1765:
1759:
1756:
1754:
1751:
1750:
1748:
1746:
1742:
1739:
1737:
1733:
1732:Phenylalanine
1729:
1726:
1724:
1719:
1709:
1706:
1704:
1701:
1699:
1696:
1695:
1693:
1691:
1687:
1682:
1676:
1673:
1671:
1668:
1666:
1663:
1662:
1660:
1658:
1654:
1648:
1645:
1643:
1640:
1638:
1635:
1634:
1632:
1630:
1626:
1620:
1617:
1615:
1612:
1610:
1607:
1606:
1604:
1602:
1598:
1595:
1593:
1588:
1587:propionyl-CoA
1583:
1573:
1570:
1569:
1567:
1565:
1561:
1557:
1551:
1548:
1546:
1543:
1542:
1540:
1538:
1534:
1528:
1525:
1523:
1520:
1518:
1515:
1514:
1512:
1510:
1506:
1503:
1501:
1496:
1491:
1481:
1478:
1476:
1472:
1468:
1465:
1464:
1461:
1458:
1456:
1453:
1451:
1448:
1447:
1445:
1443:
1439:
1436:
1434:
1430:
1425:
1422:
1420:
1416:
1406:
1403:
1402:
1400:
1398:
1394:
1388:
1385:
1383:
1380:
1378:
1375:
1373:
1370:
1368:
1365:
1364:
1362:
1360:
1356:
1350:
1347:
1345:
1342:
1340:
1337:
1335:
1332:
1330:
1327:
1326:
1324:
1321:
1317:
1314:
1312:
1308:
1304:
1300:
1296:
1289:
1284:
1282:
1277:
1275:
1270:
1269:
1266:
1253:
1249:
1248:
1244:
1242:
1238:
1237:
1233:
1232:
1229:
1225:
1218:
1214:
1213:
1209:
1207:
1203:
1202:
1198:
1196:
1192:
1191:
1187:
1185:
1181:
1180:
1176:
1172:
1170:
1166:
1165:
1161:
1157:
1156:
1153:
1148:
1144:
1137:
1128:
1124:
1120:
1116:
1113:(6): 427â32.
1112:
1108:
1100:
1097:
1092:
1088:
1082:
1079:
1074:
1070:
1065:
1060:
1056:
1052:
1048:
1041:
1038:
1033:
1029:
1024:
1019:
1016:(4): 105â10.
1015:
1011:
1007:
1000:
997:
992:
988:
985:(3): 114â21.
984:
980:
972:
969:
965:
960:
957:
953:
949:
944:
941:
936:
932:
927:
922:
918:
914:
910:
906:
902:
895:
893:
889:
884:
880:
875:
870:
866:
862:
858:
854:
850:
843:
840:
835:
831:
826:
821:
817:
813:
809:
805:
801:
794:
791:
786:
782:
777:
772:
768:
764:
757:
750:
747:
742:
738:
734:
730:
726:
722:
714:
711:
706:
702:
697:
692:
688:
684:
681:(3): 415â24.
680:
676:
672:
665:
662:
659:
655:
654:
648:
645:
640:
636:
631:
626:
622:
618:
614:
607:
604:
600:
595:
592:
589:
588:
583:
578:
575:
568:
564:
560:
557:
556:
552:
550:
548:
544:
543:George Lignac
540:
536:
535:Guido Fanconi
528:
526:
524:
516:
514:
508:
506:
503:
501:
497:
493:
491:
487:
483:
479:
475:
471:
470:tetracyclines
466:
460:
458:
456:
452:
448:
444:
443:
437:
435:
431:
426:
424:
420:
419:Lowe syndrome
416:
411:
409:
405:
401:
397:
393:
392:Lowe syndrome
389:
384:
382:
375:
373:
371:
367:
362:
359:
351:
347:
344:
341:
338:
336:
333:
331:
327:
324:
323:
322:
317:
314:
312:
309:
307:
304:
302:
299:
296:
292:
288:
286:
282:
278:
275:
274:
273:
269:
261:
259:
257:
253:
249:
245:
241:
237:
233:
229:
228:complications
224:
222:
218:
214:
210:
206:
202:
198:
194:
190:
186:
182:
181:tubular fluid
178:
174:
170:
166:
162:
158:
154:
150:
146:
145:renal tubules
142:
138:
132:
112:
76:
72:
62:
56:
55:endocrinology
52:
49:
47:
43:
39:
35:
30:
22:
2361:Pyonephrosis
2313:Nephroptosis
2186:Interstitium
2158:
2112:
2009:
1892:oxaloacetate
1776:Alkaptonuria
1592:succinyl-CoA
1522:Histidinemia
1517:Carnosinemia
1460:Sarcosinemia
1295:Inborn error
1245:
1234:
1210:
1199:
1188:
1173:
1158:
1110:
1106:
1099:
1090:
1081:
1057:(5): 241â5.
1054:
1050:
1040:
1013:
1009:
999:
982:
978:
971:
959:
943:
908:
904:
856:
852:
842:
810:(3): 165â9.
807:
803:
793:
766:
763:Cell Reports
762:
749:
724:
720:
713:
678:
674:
664:
651:
647:
620:
616:
606:
594:
585:
577:
539:pediatrician
532:
520:
512:
504:
494:
467:
464:
454:
450:
446:
440:
438:
427:
412:
400:galactosemia
385:
379:
363:
355:
320:
295:osteomalacia
271:
262:Presentation
240:osteomalacia
225:
211:through the
141:reabsorption
74:
70:
69:
2347:Major calyx
2328:Nephrogenic
1925:Argininemia
1768:Tyrosinemia
1236:MedlinePlus
905:JCI Insight
413:Two forms,
396:tyrosinemia
340:Proteinuria
311:Hypokalemia
297:(in adults)
285:dehydration
258:in adults.
201:bicarbonate
189:amino acids
37:Other names
2383:Categories
2019:Cystinosis
1988:Cystinuria
1901:Urea cycle
1780:Ochronosis
1657:Methionine
1629:Isoleucine
1397:Tryptophan
1311:acetyl-CoA
1201:DiseasesDB
569:References
537:, a Swiss
486:didanosine
398:(type I),
381:Cystinosis
370:congenital
335:Glycosuria
281:polydipsia
215:, and the
213:glomerulus
177:reabsorbed
169:metabolism
51:Nephrology
2399:Syndromes
2265:Nephrosis
2260:Nephritis
1976:IE of RTT
1971:Transport
1915:aspartate
1871:reverse:
1564:glutamine
1560:Glutamate
1509:Histidine
1495:glutamate
1247:eMedicine
1212:SNOMED CT
658:eMedicine
517:Treatment
509:Diagnosis
482:tenofovir
474:tenofovir
376:Inherited
366:inherited
244:vitamin D
197:phosphate
193:uric acid
179:from the
163:), or by
80:English:
46:Specialty
2216:Vascular
2155:Genetic
2139:proximal
1910:arginine
1855:Tyrosine
1821:Albinism
1809:Tyrosine
1736:tyrosine
1723:fumarate
1684:General
1471:Creatine
1429:pyruvate
1217:40488004
1127:16792139
1073:17329920
1032:15722646
991:19334328
935:30046000
883:25817355
834:24285859
785:27160910
741:17494094
705:19156444
639:20335586
563:Basenjis
553:See also
461:Acquired
423:X linked
306:Acidosis
277:Polyuria
209:filtered
157:toxicity
153:diseases
137:syndrome
2126:Tubules
1813:Melanin
1537:Proline
1467:Glycine
1442:Glycine
1433:citrate
1359:Leucine
1252:ped/756
1195:D005198
926:6124415
874:4625681
825:3932761
696:2810370
291:rickets
248:calcium
236:rickets
185:glucose
147:of the
135:) is a
2351:pelvis
2285:Uremia
2144:distal
1601:Valine
1572:SSADHD
1334:type 2
1320:Lysine
1241:000333
1125:
1071:
1030:
989:
933:
923:
911:(14).
881:
871:
832:
822:
783:
739:
703:
693:
637:
529:Eponym
430:EHHADH
421:, are
406:, and
352:Causes
199:, and
149:kidney
57:
2296:Other
2028:Other
1206:11687
1184:270.0
1169:E72.0
759:(PDF)
523:urine
455:Hnf4a
451:Hnf4a
447:HNF4A
442:HNF4A
173:urine
155:, by
2113:See
1190:MeSH
1179:9-CM
1123:PMID
1069:PMID
1028:PMID
987:PMID
931:PMID
879:PMID
830:PMID
781:PMID
737:PMID
701:PMID
635:PMID
484:and
417:and
283:and
246:and
238:and
1297:of
1175:ICD
1160:ICD
1115:doi
1059:doi
1018:doi
921:PMC
913:doi
869:PMC
861:doi
820:PMC
812:doi
771:doi
729:doi
725:293
691:PMC
683:doi
656:at
625:doi
621:362
584:at
498:or
73:or
2385::
2012::
1986::
1890:Gâ
1823::
1721:Gâ
1690:OA
1686:BC
1585:Gâ
1493:Gâ
1473::
1427:Gâ
1250::
1239::
1215::
1204::
1193::
1182::
1167::
1164:10
1121:.
1111:65
1109:.
1089:.
1067:.
1055:46
1053:.
1049:.
1026:.
1014:99
1012:.
1008:.
983:19
981:.
950:,
929:.
919:.
907:.
903:.
891:^
877:.
867:.
857:26
855:.
851:.
828:.
818:.
808:51
806:.
802:.
779:.
767:15
765:.
761:.
735:.
723:.
699:.
689:.
679:25
677:.
673:.
633:.
619:.
615:.
488:.
425:.
410:.
402:,
394:,
368:,
279:,
223:.
195:,
191:,
187:,
131:-/
115:,
102:oÊ
90:ÉË
53:,
2349:/
2089:e
2082:t
2075:v
1973:/
1952:/
1917:)
1908:(
1903:/
1857:â
1841:)
1837:(
1831:)
1829:1
1827:(
1811:â
1797:/
1778:/
1734:/
1688:/
1589:â
1562:/
1497:â
1469:â
1431:â
1419:G
1309:â
1307:K
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1273:v
1177:-
1162:-
1152:D
1129:.
1117::
1093:.
1075:.
1061::
1034:.
1020::
993:.
937:.
915::
909:3
885:.
863::
836:.
814::
787:.
773::
743:.
731::
707:.
685::
641:.
627::
328:/
128:n
125:ĂŠ
122:f
119:/
111:/
108:i
105:n
99:k
96:Ë
93:n
87:f
84:/
77:(
23:.
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