Molecular genetic identification of families with juvenile nephronophthisis type 1: Rate of progression to renal failure

Kidney International

Volumn 51, Issue 1, 1997, Pages 261-269

  Hildebrandt, Friedhelm ^a   Strahm, Brigitte ^b   Nothwang, Hans Gerd ^b   Gretz, Norbert ^b   Schnieders, Birgit ^b   Singh Sawhney, Iva ^b   Kutt, Ralf ^b   Vollmer, Martin ^b   Brandis, Matthias ^b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DISEASE COURSE; FAMILY STUDY; FEMALE; HUMAN; KIDNEY FAILURE; MALE; NEPHRONOPHTHISIS; PRIORITY JOURNAL;

EID: 0031055335     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1038/ki.1997.31     Document Type: Article

References (38)

1. SMITH CH, GRAHAM JB: Congenital medullary cysts of the kidneys with severe refractory anemia. Am J Dis Child 69:369-377, 1945
2. FANCONI G, HANHART E, ALBERTINI A, UHLINGER E, DOLIVO G, PRADER A: Die familiäre juvenile Nephronophthise. Helv Paediatr Acta 6:1-49, 1951
3. WALDHERR R, LENNERT T, WEBER HP, FODISH HJ, SCHÄRER K: The nephronophthisis complex: A clinicopathologic study in children. Virchows Arch 394:235-254, 1982
4. KLEINKNECHT C, HABIB R: Nephronophthisis, in Textbook of Clinical Nephrology, edited by CAMERON JC, DAVISON AM, GRÜNFELD JP, KERS KNS, RITZ E, Oxford, Oxford University Press, 1992, pp 2188-2197
5. BROYER M: Incidence and etiology of ESRD in children, in End-Stage Renal Disease in Children, edited by FINE RN, GRUSKIN AB, Philadelphia, Saunders, 1984, pp 9-15
6. HILDEBRANDT F, JUNGERS P, GRÜNFELD J-P: Medullary cystic and medullary sponge renal disorders, in Diseases of the Kidney, edited by SCHRIER WB, GOTTSCHALK C, Boston, Little, Brown and Co., 1996
7. SENIOR B, FRIEDMANN AI, BRAUDO JL: Juvenile familial nephropathy with tapetoretinal degeneration: A new oculorenal dystrophy. Am J Ophthalmol 52:625-633, 1961
8. LØKEN AC, HANSSEN O, HALVORSEN S, JOLSTER NJ: Hereditary renal dysplasia and blindness. Acta Pediatr 50:177, 1961
9. BOICHIS H, PASSWELL J, DAVID R, MILLER H: Congenital hepatic fibrosis and nephronophthisis: A family study. Quart J Med 42:221, 1973
10. MAINZER F, SALDINO RM, OZONOFF MB, MINAGI H: Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med 49:556, 1970
11. DEKABAN AS: Familial occurrence of congenital retinal blindness and renal lesions. J Hum Genet 17:289-296, 1969
12. GARDNER KD: Juvenile nephronophthisis and medullary cystic disease, in Cystic Disease of the Kidney, edited by GARDNER KD, New York, Wiley, 1976, pp 173-185
13. GARDNER KD, EVAN AP: The nephronophthisis-cystic renal medulla complex, in Nephrology, edited by HAMBURGER J, CROSNIER J, GRÜNFELD J-P, New York, Wiley, 1979, pp 893-907
14. COHEN AH, HOYER JR: Nephronophthisis. A primary tubular basement membrane defect. Lab Invest 55:564-572, 1986
15. RAHILLY MA, FLEMING S: Abnormal integrin receptor expression in two cases of familial nephronophthisis. Histopathol 26:345-349, 1995
16. ANTIGNAC C, ARDUY CH, BECKMANN JS, BENESSY F, GROS F, MEDHIOUB M, HILDEBRANDT F, DUFIER JL, KLEINKNECHT C, BROYER M, WEISSENBACH J, HABIB R, COHEN D: A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nature Genet 3:342-345, 1993
17. HILDEBRANDT F, SINGH-SAWHNEY I, SCHNIEDERS B, CENTOFANTE L, OMRAN H, POHLMANN A, SCHMALTZ C, WEDEKIND H, SCHUBOTZ C, ANTIGNAC C, WEBER JL, BRANDIS, MEMBERS OF THE APN: Mapping of a gene for familial juvenile nephronophthisis: Refining the map and definition of flanking markers. Am J Hum Genet 53:1256-1261, 1993
18. SPURR NK, BARTON H, BASHIR R, BRYSON GM, BUSHBY K, COX S, GINGRICH JC, HENTATI A, HILDEBRANDT F, KAO F-T, KRUSE T, LAI E, LIU J, MENKE M, NAYLOR S, NICKLIN M, READ A, REINER O, ROCCHI, SUMMAR M: Report of the Third International Workshop on Human Chromosome 2 Mapping 1994. Cytogenet Cell Genet 67:215-244, 1994
19. MEDHIOUB M, CHERIF D, BENESSY F, SILBERMANN F, GUBLER MC, LEPASLIER D, COHEN D, WEISSENBACH J, BECKMANN J, ANTIGNAC C: Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity. Genomics 22:296-301, 1994
20. HILDEBRANDT F, SINGH-SAWHNEY I, SCHNIEDERS B, PAPENFUSS T, BRANDIS M, MEMBERS OE THE APN STUDY GROUP: Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. Genomics 25:360-364, 1995
21. KONRAD M, SAUNIER S, SILBERMANN F, BENESSY F, LE PASLIER D, WEISSENBACH J, BROYER M, GUBLER M, ANTIGNAC C: A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q. Genomics 30:514-520, 1995
22. HILDEBRANDT F, CYBULLA M, STRAHM B, NOTHWANG HG, SINGH-SAWHNEY I, BERZ K, NICKLIN M, REINER O, BRANDIS M: Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 6.5 Mb on chromosome 2q13. Cytogenet Cell Genet 73:235-239, 1996
23. KONRAD M, SAUNIER S, SILBERMANN F, GUBLER MC, ANTIGNAC C: Physical map of the nephronophthisis region: Exclusion of PAX8 as a possible candidate gene. (abstract) J Am Soc Nephrol 6:699, 1995
24. KONRAD M, SAUNIER S, HEIDET L, SILBERMANN F, BENESSY F, CALADO J, LE PASLIER D, BROYER M, GUBLER M-C, ANTIGNAC C: Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Human Mol Genet 5:367-371, 1996
25. MANIATIS T, FRITSCH EF, SAMBROOK J: Molecular Cloning. A Laboratory Manual (2nd ed), Cold Spring Harbor Laboratory, Cold Spring Harbor Press, 1987
26. STEEL CM, PHILIPSON J, ARTHUR E, GARDINER SE, NEWTON MS, MCINTOSH RV: Possibility of EB virus preferentially transforming a subpopulation of human B lymphocytes. Nature 270:729-731, 1977
27. GYAPAY G, MORISETTE J, VIGNAL, A, DIB C, FIZAMES C, MILLASEAU P, MARC S, BERNARDI G, LATHROP M, WEISSENBACH M: The 1993-94 Généthon human genetic linkage map. Nature Genet 7:246-339, 1994
28. WHITEHEAD/MIT CENTER FOR GENOME RESEARCH: Human Genetic Mapping Project, Data Release 7, May, 1995
29. DIB C, FAURE S, FIZAMES C, SAMSON D, DROUOT N, VIGNAL A, MILLASSEAU P, MARC S, HAZAN J, SEBOUN E, LATHROP M, GYAPAY G, MORISETTE J, WEISSENBACH J: A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:A1-A138, 1996
30. WEBER JL: Personal communication in GDB(TM) Human Genome Data Base (GDB ID: G00-1157-015) Johns Hopkins University, Baltimore, 1992
31. SAS INSTITUTE INC: SAS/STAT User's Guide (vol 2, GLM-VARCOMP, Release 6.04 ed). Cary, SAS Institute Inc., 1990
32. SAS INSTITUTE INC: SAS Procedures Guide (Version 3 ed). Cary, SAS Institute Inc., 1987
33. SAS INSTITUTE INC: SAS/GRAPH Software (vol 2, Release 6 ed). Cary, SAS Institute Inc., 1990
34. GRETZ N, SCHÄRER K, WALDHERR R, STRAUCH M: Rate of deterioration of renal function in juvenile nephronophthisis. Pediatr Nephrol 3:56-60, 1989
35. GRETZ NM: How to assess the rate of progression of chronic renal failure in children? Pediatr Nephrol 8:499-504, 1994
36. MANZ F, GRETZ N, EUROPEAN COLLABORATIVE STUDY ON CYSTINOSIS: Progression of chronic renal failure in a historical group of patients with nephropathic cystinosis. Pediatr Nephrol 8:466-471, 1994
37. OTT J: Analysis of Human Linkage (Revised edition). Baltimore, Johns Hopkins University Press, 1985
38. VAN T'HOFF WG, GRETZ N: The treatment of cystinosis with cysteamine and phosphocysteamine in the United Kingdom and Eire. Pediatr Nephrol 9:685-689, 1995