家族性若年性高尿酸血症性腎症(FJHN)の遺伝子変異
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| Published in | 痛風と核酸代謝 Vol. 28; no. 2; pp. 97 - 107 |
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| Main Authors | , , |
| Format | Journal Article |
| Language | Japanese |
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一般社団法人 日本痛風・核酸代謝学会
2004
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| ISSN | 1344-9796 2186-6368 |
| DOI | 10.6032/gnam1999.28.2_97 |
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| Author | 板倉, 光夫 森谷, 眞紀 工藤, 英治 |
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| Author_xml | – sequence: 1 fullname: 工藤, 英治 organization: 徳島大学ゲノム機能研究センター遺伝情報分野 – sequence: 1 fullname: 板倉, 光夫 organization: 徳島大学ゲノム機能研究センター遺伝情報分野 – sequence: 1 fullname: 森谷, 眞紀 organization: 徳島大学ゲノム機能研究センター遺伝情報分野 |
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| References | 33) Kumar S, Muchmore A: Tamm-Horsfallp roteinuromodulin (1950-1990). Kidney I nt 37: 1395 -1401, 1990. 57) Fukuoka S, Freedman SD, Yu H, et al: GP-2/THP gene family encodes self-bindingg lyc o sylphosphatidylinositolanchorepdr oteinsi n apical secretory compartmentso f pancreas and kidney. Proc Natl AcadS ci USA 89: 1189-1193, 1992. 11) Christodoulou K, Tsingis M, Sta vrou C, et al: Chromosome 1 localization of a gene for aut o somal dominant medullary cystic kidney d isease (ADMCKD). Hum Mol Genet 7: 90 5-911, 1998. 17) Hart TC, Gorry MC, Hart PS, et al: Mutations of the UMOD gene are responsible for medulla r y cyctic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 39: 882-892, 2002. 47) Bross P, Corydon TJ, Andersen BS, et al: Protein misfolding and degradationi n genetic di s eases. Hum Mutat 14: 186-198, 1999. 64) Becker MA, Roessler BJ: Hyperuricemia and gout, in Metabolica nd m olecularb asis of inherited disease, edited by Scriver CR, Beaud et AL, Sly WS, Valle D (7th ed), New York, McGr a w-Hill Company, 1995, p p 1655-1678 58) Scheele GA, Fukuoka S, Freedman SD: Role of the GP2/THP family of GPI-anchoredp roteins i n membranet rafficking during regulated exocrin e secretion. P ancreas 9: 139-149, 1994. 19) Kudo E, Kamatani N, Tezuka O, et al: Familial juvenile hyperuricemicn e phropathy: d ete c tiono f mutations in the uromodulin gene in fiv e Japanese families. Kidney Int 65: 1589-1597, 2004. 35) Tamm I, Horsfall FL: Characterizationa nd separation of an inhibitor of viral hemaggultin a tion present in urine. Proc Soc Exp Biol Med 7 4: 108-114, 1950. 72) Kahn AM: Effect of diuretics on the renal handling of urate. Semin Nephrol 8: 305-314, 1988. 8 ) Mejias E, Navas J, Lluberes R, Martinez-MaldonadoM. Hyperuricemia, gout, and autosomal dominant polycystic kidney disease. Am J Med S ei 2 97: 145-148, 1989. 63) Sica DA, Schoolwerth AC: Renal handling of organic anions and cations: Excretion of uric acid, in The kidney (vol 1), edited by Bren n er BM (6th ed), Philadelphia, WB Sa u nders Company, 2000, p p 680-700 56) Hoops TC, Rindler MJ: Isolation of the cDNA encoding glycoprotein-2 (GP-2), the m ajor zymogen granule membrane protein. J Biol Chem 266: 4257-4263, 1991. 29) Pak J, Pu Y, Zhang ZT, et al: Tamm-Horsfall protein binds to type 1 fimbria t e d Escherichia coli and prevents E. coli from bind i ng to uroplakin Ia and lb receptors. J Biol Ch e m 276: 9924-9930, 2001. 48) HortonJ K, Davis M, Topley N, et al: Activation of the inflammatoryr esponse of neut r o phils by Tamm-Horsfallg lycoprotein. Kidney I nt 3 7: 717 -726, 1990. 67) Bachmann S, Koeppen-Hagemann I, Kriz W: Ultrastructurallo calizationo f Tamm-Horsfalgl l ycoprotein(THP) in rat kidney as revealed by protein A-goldi mmunocytochemistry. Histochemistry 83: 531-538, 1985. 2) McBride MB, Rigden S, Haycock GB, et al: Presymptomatic detection of familial juven i l e hyperuricaemicn ephropathy in children. Pediatr Nephro112: 357-364,1998. 14) Dahan K, Fuchshuber A, Adamis S, et al: Familialj uvenile hyperuricemicn ephropathya n d autosomald ominantm edullaryc ystick idney d i sease type 2: two facets of the same disease ? J Am Soc Nephrol 12: 2348-2357, 2001. 27) Ohno I, Ichida K, Okabe H, et al: Familial juvenile gouty nephropathy: e xclusiono f 16p12 f rom the candidatel ocus. N ephron 92: 573-575, 2002. 9) Hildebrandt F, Otto E: Molecular genetics of nephronophthisis and medullary cystic kidne y disease. J Am Soc Nephrol 11: 1753- 1761, 2000. 23) Rezende-Lima W, Parreira KS, Caria-Gonzalez M, et al: Homozygosity for uromodulin disorders: FJHN and MCKD-type 2. Kidne y Int 66: 558-563, 2004. 70) Jackson EK: Diuretics, in Goodman and Gilman's The p harmacologicalb asis of therap eutics, edited by HardmanJ G, Limbird LE, Gilman AG ( 10th ed), New York, McGraw -Hill Company, 2001, pp 757-787 52) Su S-I, Chang K-L, Lin T-M, et al: Uromodulin and Tamm-Horsfalpl rotein induce hu m anm onocytes to secrete TNF and express tissue factor. J Immunal158: 3449-3456, 1997. 24) Bingham C, Ellard S, Van't Hoff WG, et al, Atypical familial juvenile hyperuricemi c nephropathy associated with a hepatocyte nuclear factor-1 ( 3 gene mutation. K idney Int 63: 1645-1651, 2003. 54) Hoyer JR: Tubulointerstitial immune complex nephritis in rats immunizedw ith Tamm - H orsfall protein. K idney I nt 17: 284-292, 1980. 46) Gething M-J, SambrookJ: Protein folding in the cell. Nature 355: 33-45, 1992. 39) Cavallone D, Malagolini N, Serafini-Cessi F: Mechanismo f release of urinary Tamm-Horsf a l l glycoprotein from the kidney G PI-anchored counterpart. Biochem Biophys R es Commun 280: 110-114, 2001. 25) Enomoto A, Kimura H, Chairoungdua A, et al: Molecular identification of a renal urate-anion exchanger that regulates blood ur a te levels. Nature 4 17: 447-451, 2002. 22) Rampoldi L, Caridi G, Santon D, et al: Allelism of MCKD, FJHN and GCKD caused by i mpairment of uromoduline xport dynamics. Hu m M o]Genet 24: 3369-3384, 2003. 37) Pennica D, Kohr WJ, Kuang W-J, et al: Identification of human uromodulin as t h e Tamm-Horsfall urinary glycoprotein. Scie n c e 236: 83-88, 1 987. 5) Stiburkova B, Majewski J, Sebesta I, et al: Familial juvenile hyperuricemic nephropath y: Localization of the gene on chromosome 16p11. 2 - and evidence for genetic heterogeneity. Am J Hum Genet 66: 1989- 1994, 2000. 53) Thomas DBL, Davies M, Williams JD: Tamm-Horsfall protein: an aetiological agent in tubulointerstitial disease? Exp Nephrol 1: 281 - 284, 1993. 69) Hoyer JR, Seiler MW: Pathophysiology of Tamm-Horsfallp rotein. Kidney I nt 16: 279 -289, 1979. 30) Bates JM Jr, Raffi HM, Prasadan K, et al: Tamm-Horsfallp rotein knockout mice are mo r e prone to urinary tract infection. Kidney Int 65: 791-797, 2004. 71) Steele TH, Oppenheimer S: Factors affecting urate excretionf ollowing diuretic admi n istration in man. Am J Med 47: 564-574, 1969. 60) Wiggins RC: Uromucoid (Tamm-Horsfalgl lycoprotein)forms different polymeric arrang e m ents on a filter surface under different p h ysicochemical conditions. Clin Chim Acta 1 62: 329-340, 1987. 15) Stiburkova B, Majewski J, Hodanova K, et al: Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 fam ilies, physical and transcriptional characterization o f the FJHN critical region on chromosome 16p1 1. 2and the analysiso f seven candidateg ene s. Eur J Hum Genet 11: 145-1542, 002. 38) Rindler MJ, Naik SS, Li N, et al: Uromodulin (Tamm-Horsfallg lycoprotein/urom u coid) is a phoshatidylinositol-linkedm embrane protein. J Biol Chem2 65: 20784-20789, 1990. 43) Chambers R, Groufsky A, Hunt JS, et al: Relationshipo f abnormal Tamm-Horsfallg lyc o protein localization to renal morpholog y and function. C lin N ephrol2 6: 21-26, 1986. 28) Bleyer AJ, Woodard AS, Shihabi Z, et al: Clinicalc haracterizationo f a family with a mu t a tion in the uromodulin (Tamm-Horsfall g l ycoprotein)gene. Kidney I nt 64: 36-42, 2003. 50) Cavallone D, Malagolini N, Se rafini-Cessi F: Binding of human neutrophils to cell-surfac e anchored Tamm-Horsfallg lycoprot e in in tubulointerstitialn ephritis. Kidney I nt 55: 1787- 1799, 1999. 10) Scolari F, Viola BF, Ghiggeri GM, et al: Towards the dentificatioin of (a) gene (s) for autosomald ominantm edullaryc ystic kidneydisease. J Nephrol 16: 321-3282, 0 03. 36) Muchmore AV, Decker JM: Uromodulin: a unique 85-kilodaltoni mmunosuppressiveg lyco protein isolated from urine of pregnant w o m en. Science229: 479-481, 1985. 1 ) Duncan H, Dixon St J: Gout, familial hyperuricaemia and renal disease. Q J Med 29: 127-135, 1960. 41) Zager RA, Cotran RS, Hoyer JR: Pathologic localization of Tamm-Horsfalpl rotein i n interstitial deposits in renal disease. Lab Invest 3 8: 52-57, 1978. 20) Wolf MTF, Mucha BE, Attanasio M, et al: Mutations of the uromodulin gene in MCK D type 2 patients cluster in exon 4, which e n codes three EGF-like domains. Kidney I nt 64: 1580-1587, 2003. 44) Malagolini N, Cavallone D, Serafini-Cessi F: Intracellulart ransport, cell-surfacee xposure an d release of recombinantT amm-Horsfallg lycop r otein. Kidney Int 52: 1340-1350, 1997. 66) Hoyer JR, Sisson SP, Vernier RL: Tamm-Horsfall glycoprotein: u ltrastructural imm u noperoxidase localizationi n rat kidney. Lab I nvest 41: 168-173, 1979. 7) T hompson GR, Weiss JJ, Goldman RT, et al: Familial occurrence of hyperuricemia, g out, a n d medullary cystic disease. Arch Intern Med 138: 1614-16171, 978. 12) Scolari F, Puzzer D, Amoroso A, et al: Identificationo f a new locus for medullaryc ys t i c disease, on chromosome 16p12. Am I H um Genet 6 4: 1655-1660, 1999. 49) Thomas DB, Davies M, Peters JR, Williams JD: Tamm Horsfall protein binds to a single class of carbohydrate specific receptors on human ne u trophils. K idneyI nt 44: 423-429, 1993. 45) Serafini-Cessi F, Malagolini N, Hoops TC, RindlerM J: Biosynthesis and oligosaccharide processing of human Tamm-Horsfall glycoprote in permanently expressed in HeLa cells. Biochem Biophys Res Commun 194: 784-790, 1993. 18) Turner JJO, Stacey JM, Harding B, et al: Uromodulin mutations cause familial juven i l e hyperuricemic nephropathy. J Clin En d icrinol Metab 88: 1398-1401, 2003. 34) Serafini-Cessi F, Malagoni N, Cavallone D: Tamm-HorsfallG lycoprotein: biology and cli n i cal relevance. Am J Kidney Dis 42: 658- 676, 2003. 6) Newcombe D S: Gouty arthritis and polycystic kidney disease. Ann Intern Med 79: 605, 1973. 40) Fukuoka S, Kobayashi K: Analysis of the C-terminal structureo f urinary Tamm-Horsfalpl r o tein reveals that the release of the glycosyl p hosphatidylinositolanchoredc ounterpart fro m the kidney occursb y phenylalanine-specifipc rote o lysis. BiochemB iophys Res Commun289: 1044-1048, 2001. 51) Thomas DB, Davies M, WilliamsJ D: Releaseo f gelatinase and superoxidef rom human monon u clear phagocytesi n response to particula t e T amm Horsfall protein. Am J Pathol 142: 249 - 260, 1993. 32) Bleyer AJ, Hart TC, Shihabi Z, et al: Mutations in the uromodulin gene decrease urin a r y excretion of Tamm-Horsfall protein. |
| References_xml | – reference: 40) Fukuoka S, Kobayashi K: Analysis of the C-terminal structureo f urinary Tamm-Horsfalpl r o tein reveals that the release of the glycosyl p hosphatidylinositolanchoredc ounterpart fro m the kidney occursb y phenylalanine-specifipc rote o lysis. BiochemB iophys Res Commun289: 1044-1048, 2001. – reference: 50) Cavallone D, Malagolini N, Se rafini-Cessi F: Binding of human neutrophils to cell-surfac e anchored Tamm-Horsfallg lycoprot e in in tubulointerstitialn ephritis. Kidney I nt 55: 1787- 1799, 1999. – reference: 65) Sikri KL, Foster CL, Bloomfield FJ, Marshall RD: Localizationb y immunofluorescen ceand by light- and electron-microscopici mmunopero x idase techniques of Tamm-Horsf a llg lycoprotein in adult hamsterk idney. BiochemJ 181: 525-532, 1979. – reference: 54) Hoyer JR: Tubulointerstitial immune complex nephritis in rats immunizedw ith Tamm - H orsfall protein. K idney I nt 17: 284-292, 1980. – reference: 60) Wiggins RC: Uromucoid (Tamm-Horsfalgl lycoprotein)forms different polymeric arrang e m ents on a filter surface under different p h ysicochemical conditions. Clin Chim Acta 1 62: 329-340, 1987. – reference: 61) Grondin G, St-Jean P, Beaudoin AR: Cytochemical and immunocytochemiccahl aracteri z a tiono f a fibrillar network (GP2) in pancreaticj uice: poss i b le role as a sievei n the pancreaticd uctals yste m. E ur J CellB iol5 7: 155-1641, 992 – reference: 20) Wolf MTF, Mucha BE, Attanasio M, et al: Mutations of the uromodulin gene in MCK D type 2 patients cluster in exon 4, which e n codes three EGF-like domains. Kidney I nt 64: 1580-1587, 2003. – reference: 59) Freedman SD, Scheele GA: Reversible pHinduced homophilic binding of GP2, a glyc o syl phosphatidylinositol-anchorepdr otein in pancreatic zymogen granule membranes. Eur J Cell Biol 6 1: 229-238, 1993. – reference: 17) Hart TC, Gorry MC, Hart PS, et al: Mutations of the UMOD gene are responsible for medulla r y cyctic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 39: 882-892, 2002. – reference: 56) Hoops TC, Rindler MJ: Isolation of the cDNA encoding glycoprotein-2 (GP-2), the m ajor zymogen granule membrane protein. J Biol Chem 266: 4257-4263, 1991. – reference: 68) Mattey M, Naftalin L: Mechanoelectrical transduction, ion movement and water stasis in uromodulin. E xperientia 48: 975-980, 1992. – reference: 63) Sica DA, Schoolwerth AC: Renal handling of organic anions and cations: Excretion of uric acid, in The kidney (vol 1), edited by Bren n er BM (6th ed), Philadelphia, WB Sa u nders Company, 2000, p p 680-700 – reference: 57) Fukuoka S, Freedman SD, Yu H, et al: GP-2/THP gene family encodes self-bindingg lyc o sylphosphatidylinositolanchorepdr oteinsi n apical secretory compartmentso f pancreas and kidney. Proc Natl AcadS ci USA 89: 1189-1193, 1992. – reference: 5) Stiburkova B, Majewski J, Sebesta I, et al: Familial juvenile hyperuricemic nephropath y: Localization of the gene on chromosome 16p11. 2 - and evidence for genetic heterogeneity. Am J Hum Genet 66: 1989- 1994, 2000. – reference: 67) Bachmann S, Koeppen-Hagemann I, Kriz W: Ultrastructurallo calizationo f Tamm-Horsfalgl l ycoprotein(THP) in rat kidney as revealed by protein A-goldi mmunocytochemistry. Histochemistry 83: 531-538, 1985. – reference: 6) Newcombe D S: Gouty arthritis and polycystic kidney disease. Ann Intern Med 79: 605, 1973. – reference: 18) Turner JJO, Stacey JM, Harding B, et al: Uromodulin mutations cause familial juven i l e hyperuricemic nephropathy. J Clin En d icrinol Metab 88: 1398-1401, 2003. – reference: 29) Pak J, Pu Y, Zhang ZT, et al: Tamm-Horsfall protein binds to type 1 fimbria t e d Escherichia coli and prevents E. coli from bind i ng to uroplakin Ia and lb receptors. J Biol Ch e m 276: 9924-9930, 2001. – reference: 52) Su S-I, Chang K-L, Lin T-M, et al: Uromodulin and Tamm-Horsfalpl rotein induce hu m anm onocytes to secrete TNF and express tissue factor. J Immunal158: 3449-3456, 1997. – reference: 41) Zager RA, Cotran RS, Hoyer JR: Pathologic localization of Tamm-Horsfalpl rotein i n interstitial deposits in renal disease. Lab Invest 3 8: 52-57, 1978. – reference: 24) Bingham C, Ellard S, Van't Hoff WG, et al, Atypical familial juvenile hyperuricemi c nephropathy associated with a hepatocyte nuclear factor-1 ( 3 gene mutation. K idney Int 63: 1645-1651, 2003. – reference: 66) Hoyer JR, Sisson SP, Vernier RL: Tamm-Horsfall glycoprotein: u ltrastructural imm u noperoxidase localizationi n rat kidney. Lab I nvest 41: 168-173, 1979. – reference: 51) Thomas DB, Davies M, WilliamsJ D: Releaseo f gelatinase and superoxidef rom human monon u clear phagocytesi n response to particula t e T amm Horsfall protein. Am J Pathol 142: 249 - 260, 1993. – reference: 22) Rampoldi L, Caridi G, Santon D, et al: Allelism of MCKD, FJHN and GCKD caused by i mpairment of uromoduline xport dynamics. Hu m M o]Genet 24: 3369-3384, 2003. – reference: 71) Steele TH, Oppenheimer S: Factors affecting urate excretionf ollowing diuretic admi n istration in man. Am J Med 47: 564-574, 1969. – reference: 3) Yokota N, Yamanak a H, Yamamoto Y, et al: Autosomal dominant transmission of gouty arthritis with renal disease in a large Jap a nese family. Ann Rheum D is 50: 108-111, 1 9 9 1. – reference: 53) Thomas DBL, Davies M, Williams JD: Tamm-Horsfall protein: an aetiological agent in tubulointerstitial disease? Exp Nephrol 1: 281 - 284, 1993. – reference: 38) Rindler MJ, Naik SS, Li N, et al: Uromodulin (Tamm-Horsfallg lycoprotein/urom u coid) is a phoshatidylinositol-linkedm embrane protein. J Biol Chem2 65: 20784-20789, 1990. – reference: 62) Torffvit O, Melander O, Hulten UL: Urinary excretionr ate of Tamm-Horsfallp rotein is related to salt intake in humans. Nephron Physiol 97: 31-36, 2004. – reference: 16) Stacey JM, Turner JJO, Harding B, et al: Genetic mapping studies of familial juvenile h yperuricemic nephropathy on chromosome 1 6p11p13. J Clin Endocrinol Metabol 88: 464 -470, 2003. – reference: 43) Chambers R, Groufsky A, Hunt JS, et al: Relationshipo f abnormal Tamm-Horsfallg lyc o protein localization to renal morpholog y and function. C lin N ephrol2 6: 21-26, 1986. – reference: 46) Gething M-J, SambrookJ: Protein folding in the cell. Nature 355: 33-45, 1992. – reference: 33) Kumar S, Muchmore A: Tamm-Horsfallp roteinuromodulin (1950-1990). Kidney I nt 37: 1395 -1401, 1990. – reference: 39) Cavallone D, Malagolini N, Serafini-Cessi F: Mechanismo f release of urinary Tamm-Horsf a l l glycoprotein from the kidney G PI-anchored counterpart. Biochem Biophys R es Commun 280: 110-114, 2001. – reference: 8 ) Mejias E, Navas J, Lluberes R, Martinez-MaldonadoM. Hyperuricemia, gout, and autosomal dominant polycystic kidney disease. Am J Med S ei 2 97: 145-148, 1989. – reference: 34) Serafini-Cessi F, Malagoni N, Cavallone D: Tamm-HorsfallG lycoprotein: biology and cli n i cal relevance. Am J Kidney Dis 42: 658- 676, 2003. – reference: 21) Dahan K, Devuyst O, Smaers M, et al: A cluster of mutations in the U MOD gene causes fa m ilial juvenile hyperuricemicn ephropathyw ith abnormal expression of uromodulin. J Am Soc Nephrol 14: 2883-2893, 2003. – reference: 28) Bleyer AJ, Woodard AS, Shihabi Z, et al: Clinicalc haracterizationo f a family with a mu t a tion in the uromodulin (Tamm-Horsfall g l ycoprotein)gene. Kidney I nt 64: 36-42, 2003. – reference: 37) Pennica D, Kohr WJ, Kuang W-J, et al: Identification of human uromodulin as t h e Tamm-Horsfall urinary glycoprotein. Scie n c e 236: 83-88, 1 987. – reference: 42) Resnick JS, Sisson S, Vernier RL: Tamm-Horsfall protein: abnormal localization in renal disease. L ab Invest 38: 550-555, 1978. – reference: 25) Enomoto A, Kimura H, Chairoungdua A, et al: Molecular identification of a renal urate-anion exchanger that regulates blood ur a te levels. Nature 4 17: 447-451, 2002. – reference: 23) Rezende-Lima W, Parreira KS, Caria-Gonzalez M, et al: Homozygosity for uromodulin disorders: FJHN and MCKD-type 2. Kidne y Int 66: 558-563, 2004. – reference: 11) Christodoulou K, Tsingis M, Sta vrou C, et al: Chromosome 1 localization of a gene for aut o somal dominant medullary cystic kidney d isease (ADMCKD). Hum Mol Genet 7: 90 5-911, 1998. – reference: 10) Scolari F, Viola BF, Ghiggeri GM, et al: Towards the dentificatioin of (a) gene (s) for autosomald ominantm edullaryc ystic kidneydisease. J Nephrol 16: 321-3282, 0 03. – reference: 72) Kahn AM: Effect of diuretics on the renal handling of urate. Semin Nephrol 8: 305-314, 1988. – reference: 7) T hompson GR, Weiss JJ, Goldman RT, et al: Familial occurrence of hyperuricemia, g out, a n d medullary cystic disease. Arch Intern Med 138: 1614-16171, 978. – reference: 32) Bleyer AJ, Hart TC, Shihabi Z, et al: Mutations in the uromodulin gene decrease urin a r y excretion of Tamm-Horsfall protein. Kidne y Int 66: 974-977, 2004. – reference: 9) Hildebrandt F, Otto E: Molecular genetics of nephronophthisis and medullary cystic kidne y disease. J Am Soc Nephrol 11: 1753- 1761, 2000. – reference: 48) HortonJ K, Davis M, Topley N, et al: Activation of the inflammatoryr esponse of neut r o phils by Tamm-Horsfallg lycoprotein. Kidney I nt 3 7: 717 -726, 1990. – reference: 12) Scolari F, Puzzer D, Amoroso A, et al: Identificationo f a new locus for medullaryc ys t i c disease, on chromosome 16p12. Am I H um Genet 6 4: 1655-1660, 1999. – reference: 4) Kamatani N, Moritani M, Yamanak a H, et al: Localization of a gene for familialj uvenile hype ruricemic nephropathy causing underexcr etiontype gout to 16p12 by genom e - wide linkage analysis of a large family. Arthritis R heum 43: 925-929, 2000. – reference: 31) Mo L, Zhu X, Huang H, et al: Ablation of the Tamm-Horsfallp roteing ene increases uscepti b ility of mice to bladder colonizationb y t y pe 1-fimbriated Esherichia coli. Am J Physiol R enal Physiol2 86: F795-F8022, 004. – reference: 1 ) Duncan H, Dixon St J: Gout, familial hyperuricaemia and renal disease. Q J Med 29: 127-135, 1960. – reference: 30) Bates JM Jr, Raffi HM, Prasadan K, et al: Tamm-Horsfallp rotein knockout mice are mo r e prone to urinary tract infection. Kidney Int 65: 791-797, 2004. – reference: 69) Hoyer JR, Seiler MW: Pathophysiology of Tamm-Horsfallp rotein. 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| Title | 家族性若年性高尿酸血症性腎症(FJHN)の遺伝子変異 |
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