References
I Helin P Persson (1986) ArticleTitlePrenatal diagnosis of urinary tract abnormalities by ultrasound Pediatrics 78 879–83 Occurrence Handle3532021
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.
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.
C Eng N Guffon WR Wilcox et al. (2001) ArticleTitleSafety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease N Engl J Med 345 9–16 Occurrence Handle10.1056/NEJM200107053450102 Occurrence Handle11439963
PJ Meikle JJ Hopwood AE Clagne WF Carey (1999) ArticleTitlePrevalence of lysosomal storage disorders JAMA 289 249–54 Occurrence Handle10.1001/jama.281.3.249
S Nako C Kodama T Takenaka et al. (2003) ArticleTitleFabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” Kidney Int 64 801–7 Occurrence Handle10.1046/j.1523-1755.2003.00160.x Occurrence Handle12911529
JP Grünfeld (2003) ArticleTitleHow to improve the early diagnosis of Fabry's disease? Kidney Int 64 1136–7 Occurrence Handle10.1046/j.1523-1755.2003.00196.x Occurrence Handle12911568
S Fargue F Chevalier-Prost MO Rolland P Cochat (2002) ArticleTitleDiagnosis of primary hyperoxaluria type 1: a one-centre experience Pediatr Nephrol 17 C52 Occurrence Handle10.1007/s004670200010
ER Gagné E Deland M Daudon et al. (1994) ArticleTitleChronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant Am J Kidney Dis 24 104–7 Occurrence Handle8023815
KJ Van Acker HA Simmonds CF Potter JS Cameron (1977) ArticleTitleComplete deficiency of adenine phosphoribosyltransferase: report of a family N Engl J Med 297 127–32 Occurrence Handle865583
F Hildebrandt H Omran (2001) ArticleTitleNew insights: nephronophthisis/medullary cystic kidney disease Pediatr Nephrol 16 168–76 Occurrence Handle10.1007/s004670000518 Occurrence Handle11261687
N Boute O Gribouval S Roselli et al. (2000) ArticleTitleNPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome Nat Genet 24 349–54 Occurrence Handle10.1038/74166 Occurrence Handle10742096
L Massella A Onetti Muda T Faraggiana et al. (2003) ArticleTitleEpidermal basement membrane α5 IV) expression in females with Alport syndrome and severity of renal disease Kidney Int 64 1787–91 Occurrence Handle10.1046/j.1523-1755.2003.00251.x Occurrence Handle14531812
H Tsukaguchi A Sudhakar TC Le T Nguyen J Yao JA Schwimmer et al. (2002) ArticleTitleNPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele J Clin Invest 110 1659–66 Occurrence Handle10.1172/JCI200216242 Occurrence Handle12464671
M Schouck S Hoorntje J van Hooff (1998) ArticleTitleRenal transplantation in Alagille syndrome Nephrol Dial Transplant 13 197–9 Occurrence Handle10.1093/ndt/13.1.197 Occurrence Handle9481741
L Tricot Y Yahiaoui L Texeira et al. (2003) ArticleTitleEnd-stage renal failure in Lowe syndrome Nephrol Dial Transplant 18 1923–5 Occurrence Handle10.1093/ndt/gfg294 Occurrence Handle12937245
RW Schrier KK McFann AM Johnson (2003) ArticleTitleEpidemiological study of kidney survival in autosomal dominant polycystic kidney disease Kidney Int 63 678–85 Occurrence Handle10.1046/j.1523-1755.2003.00776.x Occurrence Handle12631134
Ve Torres X Wang Q Qian et al. (2004) ArticleTitleEffective treatment of an orthologous model of autosomal dominant polycystic kidney disease Nat Med 10 363–4 Occurrence Handle10.1038/nm1004 Occurrence Handle14991049
N Hateboer MA van Dijk N Bogdanova et al. (1999) ArticleTitleComparison of phenotypes of polycystic kidney disease type 1 and 2 Lancet 353 103–7 Occurrence Handle10.1016/S0140-6736(98)03495-3 Occurrence Handle10023895
A Persu M Duyne Y Pirson et al. (2004) ArticleTitleComparison between siblings and monozygotic twins supports a significant role of modifier genes in autosomal dominant polycystic kidney disease Kidney Int 66 2132–6 Occurrence Handle10.1111/j.1523-1755.2004.66003.x Occurrence Handle15569302
VP Krymshaya (2003) ArticleTitleTumour suppressors hamartin and tuberin: intracellular signaling Cell Signal 15 729–39 Occurrence Handle12781866
Muller S, Zingralf J, Grünfeld JP, Jungers P. ERA-EDTA Congress, 1997, Geneva, Switzerland.
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Grünfeld, JP. Congenital/inherited kidney diseases: how to identify them early and how to manage them. Clin Exp Nephrol 9, 192–194 (2005). https://doi.org/10.1007/s10157-005-0352-0
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DOI: https://doi.org/10.1007/s10157-005-0352-0