메뉴 건너뛰기




Volumn 9, Issue 3, 2005, Pages 192-194

Congenital/inherited kidney diseases: How to identify them early and how to manage them

Author keywords

Adenine phosphoribosyl transferase deficiency; Fabry disease; Podocin; Polycystic kidney diseases; Renal genetics

Indexed keywords

ANALYTIC METHOD; DIAGNOSTIC TEST; HERITABILITY; HUMAN; KIDNEY DISEASE; KIDNEY MALFORMATION; LABORATORY TEST; REVIEW; URINARY TRACT MALFORMATION;

EID: 26244438032     PISSN: 13421751     EISSN: 14377799     Source Type: Journal    
DOI: 10.1007/s10157-005-0352-0     Document Type: Review
Times cited : (5)

References (22)
  • 1
    • 0023028236 scopus 로고
    • Prenatal diagnosis of urinary tract abnormalities by ultrasound
    • I Helin P Persson 1986 Prenatal diagnosis of urinary tract abnormalities by ultrasound Pediatrics 78 879 83
    • (1986) Pediatrics , vol.78 , pp. 879-83
    • Helin, I.1    Persson, P.2
  • 2
    • 26244433846 scopus 로고    scopus 로고
    • Congenital abnormalities of the urinary tract
    • Davison AM, Cameron JS, Grünfeld JP, Ponticelli C et al., editors. Oxford University Press;
    • Rascher W, Rosch WH. Congenital abnormalities of the urinary tract. In: Davison AM, Cameron JS, Grünfeld JP, Ponticelli C et al., editors. Oxford textbook of clinical nephrology. 3rd ed. Oxford University Press; 2005.
    • (2005) Oxford Textbook of Clinical Nephrology. 3rd Ed.
    • Rascher, W.1    Rosch, W.H.2
  • 3
    • 26244453681 scopus 로고    scopus 로고
    • Cystinosis
    • Davison AM, Cameron JS, Grünfeld JP, Ponticelli C et al., editors. Oxford University Press;
    • Broyer M, Gubler MC. Cystinosis. In: Davison AM, Cameron JS, Grünfeld JP, Ponticelli C et al., editors. Oxford textbook of clinical nephrology. 3rd ed. Oxford University Press; 2005.
    • (2005) Oxford Textbook of Clinical Nephrology. 3rd Ed.
    • Broyer, M.1    Gubler, M.C.2
  • 4
    • 0035811624 scopus 로고    scopus 로고
    • Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease
    • C Eng N Guffon WR Wilcox 2001 Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease N Engl J Med 345 9 16
    • (2001) N Engl J Med , vol.345 , pp. 9-16
    • Eng, C.1    Guffon, N.2    Wilcox, W.R.3
  • 6
    • 12444319931 scopus 로고    scopus 로고
    • Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant"
    • S Nako C Kodama T Takenaka 2003 Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" Kidney Int 64 801 7
    • (2003) Kidney Int , vol.64 , pp. 801-7
    • Nako, S.1    Kodama, C.2    Takenaka, T.3
  • 7
    • 0041930936 scopus 로고    scopus 로고
    • How to improve the early diagnosis of Fabry's disease?
    • JP Grünfeld 2003 How to improve the early diagnosis of Fabry's disease? Kidney Int 64 1136 7
    • (2003) Kidney Int , vol.64 , pp. 1136-7
    • Grünfeld, J.P.1
  • 9
    • 0028260861 scopus 로고
    • Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: The first report of recurrence in a kidney transplant
    • ER Gagné E Deland M Daudon 1994 Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant Am J Kidney Dis 24 104 7
    • (1994) Am J Kidney Dis , vol.24 , pp. 104-7
    • Gagné, E.R.1    Deland, E.2    Daudon, M.3
  • 10
    • 0017780760 scopus 로고
    • Complete deficiency of adenine phosphoribosyltransferase: Report of a family
    • KJ Van Acker HA Simmonds CF Potter JS Cameron 1977 Complete deficiency of adenine phosphoribosyltransferase: report of a family N Engl J Med 297 127 32
    • (1977) N Engl J Med , vol.297 , pp. 127-32
    • Van Acker, K.J.1    Simmonds, H.A.2    Potter, C.F.3    Cameron, J.S.4
  • 11
    • 0035140597 scopus 로고    scopus 로고
    • New insights: Nephronophthisis/medullary cystic kidney disease
    • F Hildebrandt H Omran 2001 New insights: nephronophthisis/medullary cystic kidney disease Pediatr Nephrol 16 168 76
    • (2001) Pediatr Nephrol , vol.16 , pp. 168-76
    • Hildebrandt, F.1    Omran, H.2
  • 12
    • 0034034757 scopus 로고    scopus 로고
    • NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
    • N Boute O Gribouval S Roselli 2000 NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome Nat Genet 24 349 54
    • (2000) Nat Genet , vol.24 , pp. 349-54
    • Boute, N.1    Gribouval, O.2    Roselli, S.3
  • 13
    • 0142156122 scopus 로고    scopus 로고
    • Epidermal basement membrane α5 IV) expression in females with Alport syndrome and severity of renal disease
    • L Massella A Onetti Muda T Faraggiana 2003 Epidermal basement membrane α5 IV) expression in females with Alport syndrome and severity of renal disease Kidney Int 64 1787 91
    • (2003) Kidney Int , vol.64 , pp. 1787-91
    • Massella, L.1    Onetti Muda, A.2    Faraggiana, T.3
  • 14
    • 0036897388 scopus 로고    scopus 로고
    • NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele
    • H Tsukaguchi A Sudhakar TC Le T Nguyen J Yao JA Schwimmer 2002 NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele J Clin Invest 110 1659 66
    • (2002) J Clin Invest , vol.110 , pp. 1659-66
    • Tsukaguchi, H.1    Sudhakar, A.2    Le, T.C.3    Nguyen, T.4    Yao, J.5    Schwimmer, J.A.6
  • 17
    • 0037246041 scopus 로고    scopus 로고
    • Epidemiological study of kidney survival in autosomal dominant polycystic kidney disease
    • RW Schrier KK McFann AM Johnson 2003 Epidemiological study of kidney survival in autosomal dominant polycystic kidney disease Kidney Int 63 678 85
    • (2003) Kidney Int , vol.63 , pp. 678-85
    • Schrier, R.W.1    McFann, K.K.2    Johnson, A.M.3
  • 18
    • 1942486801 scopus 로고    scopus 로고
    • Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease
    • Ve Torres X Wang Q Qian 2004 Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease Nat Med 10 363 4
    • (2004) Nat Med , vol.10 , pp. 363-4
    • Ve, T.1    Wang, X.2    Qian, Q.3
  • 19
    • 0033537164 scopus 로고    scopus 로고
    • Comparison of phenotypes of polycystic kidney disease type 1 and 2
    • N Hateboer MA van Dijk N Bogdanova 1999 Comparison of phenotypes of polycystic kidney disease type 1 and 2 Lancet 353 103 7
    • (1999) Lancet , vol.353 , pp. 103-7
    • Hateboer, N.1    Van Dijk, M.A.2    Bogdanova, N.3
  • 20
    • 16244367509 scopus 로고    scopus 로고
    • Comparison between siblings and monozygotic twins supports a significant role of modifier genes in autosomal dominant polycystic kidney disease
    • A Persu M Duyne Y Pirson 2004 Comparison between siblings and monozygotic twins supports a significant role of modifier genes in autosomal dominant polycystic kidney disease Kidney Int 66 2132 6
    • (2004) Kidney Int , vol.66 , pp. 2132-6
    • Persu, A.1    Duyne, M.2    Pirson, Y.3
  • 21
    • 0037683087 scopus 로고    scopus 로고
    • Tumour suppressors hamartin and tuberin: Intracellular signaling
    • VP Krymshaya 2003 Tumour suppressors hamartin and tuberin: intracellular signaling Cell Signal 15 729 39
    • (2003) Cell Signal , vol.15 , pp. 729-39
    • Krymshaya, V.P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.