Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth

Pediatric Nephrology

Volumn 22, Issue 3, 2007, Pages 380-388

  Boyer, Olivia ^a   Gagnadoux, Marie France ^a   Guest, Geneviève ^a   Biebuyck, Nathalie ^a   Charbit, Marina ^a   Salomon, Rémi ^a   Niaudet, Patrick ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

ADPKD; Childhood; Children; Early onset; PKD1; Prenatal diagnosis; Renal cysts

Indexed keywords

ANTIHYPERTENSIVE AGENT;

ARTICLE; CHILD; CHRONIC KIDNEY FAILURE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ECHOGRAPHY; FEMALE; FOLLOW UP; HEMATURIA; HUMAN; HYPERTENSION; INFANT; KIDNEY CYST; KIDNEY HYPERTROPHY; KIDNEY POLYCYSTIC DISEASE; MALE; PEDIGREE ANALYSIS; PNEUMOTHORAX; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; PROTEINURIA; PYELONEPHRITIS;

CHILD; FEMALE; FOLLOW-UP STUDIES; HUMANS; HYPERTENSION, RENAL; INFANT, NEWBORN; KIDNEY; MALE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PREGNANCY; PROGNOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 34248156631     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-006-0327-8     Document Type: Article

References (65)

1. Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Pearson PL, Weatherall DJ (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317:542-544
2. Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Norby S, Constantinou-Deltas CD, Pierides A, Briessenden JE, Frants RR, van Ommen GJB, Breuning MH (1993) Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet 5:359-362
3. Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S (1993) Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23. Genomics 18:467-472
4. Gabow PA (1993) Autosomal dominant polycystic kidney disease. N Engl J Med 329:332-342
5. Blyth H, Ockenden BG (1971) Polycystic disease of kidney and liver presenting in childhood. J Med Genet 8:257-284
6. MacDermot KD, Saggar-Malik AK, Economides DL, Jeffery S (1998) Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease. J Med Genet 35:13-16
7. Lawson TL, Foley WD, Berland LL, Clark KE (1981) Ultrasonic evaluation of fetal kidneys. Radiology 138:153-156
8. Han BK, Babcock DS (1985) Sonographic measurements and appearance of normal kidneys in children. Am J Roentgenol 145:611-616
9. Andre JL, Deschamps JP, Gueguen R (1980) Arterial blood pressure in 17,067 children and adolescents. Variation with age and height. Arch Fr Pediatr 37:477-482
10. Schwartz GJ, Haycock GB, Edelmann CM Jr, Spitzer A (1976) A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine. Pediatrics 58:259-263
11. Schwartz GJ, Feld LG, Langford DJ (1984) A simple estimate of glomerular filtration rate in full-term infants during the first year of life. J Pediatr 104:849-854
12. Kaplan BS, Rabin I, Nogrady MB, Drummond KN (1977) Autosomal dominant polycystic renal disease in children. J Pediatr 90:782-783
13. Tee JB, Acott PD, McLellan DH, Crocker JF (2004) Phenotypic heterogeneity in pediatric autosomal dominant polycystic kidney disease at first presentation: A single-center, 20-year review. Am J Kidney Dis 43:296-303
14. Cole BR, Conley SB, Stapleton FB (1987) Polycystic kidney disease in the first year of life. J Pediatr 111:693-699
15. Sedman A, Bell P, Manco-Johnson M, Schrier R, Warady BA, Heard EO, Butler-Simon N, Gabow P (1987) Autosomal dominant polycystic kidney disease in childhood: A longitudinal study. Kidney Int 31:1000-1005
16. Gagnadoux, MF, Habib R (1989) Polycystic kidney disease in children. Pediatrie 44:539-544
17. Pretorius DH, Lee ME, Manco-Johnson ML, Weingast GR, Sedman AB, Gabow PA (1987) Diagnosis of autosomal dominant polycystic kidney disease in utero and in the young infant. J Ultrasound Med 6:249-255
18. Garel L, Sauvegrain J, Filiatrault D (1983) Dominant polycystic disease of the kidney in a newborn child; report of one case. Ann Radiol 26:183-186
19. Avni FE, Guissard G, Hall M, Janssen F, DeMaertelaer V, Rypens F (2002) Hereditary polycystic kidney diseases in children: Changing sonographic patterns through childhood. Pediatr Radiol 32:169-174
20. Bengtsson U, Hedman L, Svalander C (1975) Adult type of polycystic kidney disease in a new-born child. Acta Med Scand 197:447-450
21. Ross DG, Travers H (1975) Infantile presentation of adult-type polycystic kidney disease in a large kindred. J Pediatr 87:760-763
22. Begleteir ML, Smith TH, Harris DJ (1977) Ultrasound for genetic counselling in polycystic kidney disease. Lancet 2:1073-1074
23. Shokeir MH (1978) Expression of "adult" polycystic renal disease in the fetus and newborn. Clin Genet 14:61-72
24. Eulderink F, Hogewind BL (1978) Renal cysts in premature children: occurrence in a family with polycystic kidney disease. Arch Pathol Lab Med 102:592-595
25. Zerres K, Hansmann M, Knopfle G, Stephan M (1985) Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease? Hum Genet 71:368-369
26. Fryns JP, Vandenberghe K, Moerman F (1986) Mid-trimester ultrasonographic diagnosis of early manifesting "adult" form of polycystic kidney disease. Hum Genet 74:461
27. Edwards OP, Baldinger S (1989) Prenatal onset of autosomal dominant polycystic kidney disease. Urology 34:265-270
28. Ceccherini I, Lituania M, Cordone MS, Perfumo F, Gusmano R, Callea F, Archidiacono N, Romeo G (1989) Autosomal dominant polycystic kidney disease: Prenatal diagnosis by DNA analysis and sonography at 14 weeks. Prenat Diagn 9:751-758
29. McHugo JM, Shafi MI, Rowlands D, Weaver JB (1988) Pre-natal diagnosis of adult polycystic kidney disease. Br J Radiol 61:1072-1074
30. Journel H, Guyot C, Barc RM, Belbeoch P, Quemener A, Jouan H (1989) Unexpected ultrasonographic prenatal diagnosis of autosomal dominant polycystic kidney disease. Prenat Diagn 9:663-671
31. Fick GM, Johnson AM, Strain JD, Kimberling WJ, Kumar S, Manco-Johnson ML, Duley IT, Gabow PA (1993) Characteristics of very early onset autosomal dominant polycystic kidney disease. J Am Soc Nephrol 3:1863-1870
32. Pecoraro C, Larocca MR, Turco A, Pota A, Raddi G (2001) Prognosis for autosomal dominant polycystic kidney disease presenting in utero. Pediatr Nephrol 16:C50
33. Sinibaldi D, Malena S, Mingarelli R, Rizzoni G (1996) Prenatal ultrasonographic findings of dominant polycystic kidney disease and postnatal renal evolution. Am J Med Genet 65:337-341
34. Kaye C, Lewy PR (1974) Congenital appearance of adult-type (autosomal dominant) polycystic kidney disease. J Pediatr 85:807-810
35. Torra R, Badenas C, Darnell A, Bru C, Escorsell A, Estivill X (1997) Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Kidney Int 52:33-38
36. Proesmans W, Van Damme B, Casaer P, Marchal G (1982) Autosomal dominant polycystic kidney disease in the neonatal period: Association with a cerebral arteriovenous malformation. Pediatrics 70:971-975
37. Abdollah Shamshirsaz A, Reza Bekheirnia M, Kamgar M, Johnson AM, McFann K, Cadnapaphornchai M, Nobakhthaghighi N, Schrier RW (2005) Autosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome. Kidney Int 68:2218-2224
38. Fick-Brosnahan GM, Tran ZV, Johnson AM, Strain JD, Gabow PA (2001) Progression of autosomal dominant polycystic kidney disease in children. Kidney Int 59:1654-1662
39. Fick-Brosnahan GM, Belz MM, McFann KK, Johnson AM, Schrier RW (2002) Relationship between renal volume growth and renal function in autosomal dominant polycystic kidney disease: A longitudinal study. Am J Kidney Dis 39:1127-1134
40. Kaariainen H (1987) Polycystic kidney disease in children: A genetic and epidemiological study of 82 Finnish patients. J Med Genet 24:474-481
41. Peral B, Ong AC, San Millan JL, Gamble V, Rees L, Harris PC (1996) A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum Mol Genet 5:539-542
42. Michaud J, Russo P, Grignon A, Dallaire L, Bichet D, Rosenblatt D, Lamothe E, Lambert M (1994) Autosomal dominant polycystic kidney disease in the fetus. Am J Med Genet 51:240-246
43. Torra R, Badenas C, San Millan JL, Perez-Oller L, Estivill X, Darnell A (1999) A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. Am J Hum Genet 65:345-352
44. Gal A, Wirth B, Kaariainen H, Lucotte G, Landais P, Gillessen-Kaesbach G, Muller-Wiefel DE, Zerres K (1989) Childhood manifestation of autosomal dominant polycystic kidney disease: No evidence for genetic heterogeneity. Clin Genet 35:13-19
45. Novelli G, Frontali M, Baldini D, Bosman C, Dallapiccola B, Pachi A, Torcia F (1989) Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem. Prenat Diagn 9:759-767
46. Parfrey P, Bear J, Morgan J, Cramer B, McManamon P, Gault H, Churchill D, Singh M, Hewitt R, Somlo S, Reeders S (1990) The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med 323:1085-1090
47. Ravind D, Walker R, Gibson R, Forrest S, Richards S, Friend K, Sheffield L, Kincaid-Smith A, Danks D (1992) Phenotype and genotype heterogeneity in autosomal polycystic kidney disease. Lancet 340:1330-1333
48. Zerres K, Rudnik-Schoneborn S, Deget F (1993) Childhood onset autosomal dominant polycystic kidney disease in sibs: Clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft fur Pädiatrische Nephrologie). J Med Genet 30:583-588
49. Bear JC, Parfrey PS, Morgan JM, Martin CJ, Cramer BC (1992) Autosomal dominant polycystic kidney disease: New information for genetic counselling. Am J Med Genet 43:548-553
50. Fick GM, Johnson AM, Gabow PA (1994) Is there evidence for anticipation in autosomal-dominant polycystic kidney disease? Kidney Int 45:1153-1162
51. Perrichot RA, Mercier B, de Parscau L, Simon PM, Cledes J, Ferec C (2001) Inheritance of a stable mutation in a family with early-onset disease. Nephron 87:340-345
52. Turco AE, Padovani EM, Peissel B, Chiaffoni GP, Rossetti S, Gammaro L, Maschio G, Pignatti PF (1995) Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. J Perinat Med 23:205-212
53. Pei Y, Watnick T, He N, Wang K, Liang Y, Parfrey P, Germino G, St George-Hyslop P (1999) Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. J Am Soc Nephrol 10:1524-1529
54. Qian F, Watnick TJ, Onuchic LF, Germino GG (1996) The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 87:979-987
55. Brasier JL, Henske EP (1997) Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis. J Clin Invest 99:194-199
56. Koptides M, Mean R, Demetriou K, Pierides A, Deltas CC (2000) Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease. Hum Mol Genet 9:447-52
57. Ryynanen M, Dolata MM, Lampainen E, Reeders ST (1987) Localisation of a mutation producing autosomal dominant polycystic kidney disease without renal failure. J Med Genet 24:462-465
58. Smedley MG, Bailey RR (1987) Autosomal dominant polycystic kidney disease diagnosed in utero using ultrasonography. N Z Med J 100:606
59. Hayden CK Jr, Swischuk LE, Davis M, Brouhard BH (1984) Puddling: A distinguishing feature of adult polycystic kidney disease in the neonate. Am J Roentgenol 142:811-8112
60. Main D, Mennuti MT, Cornfeld D, Coleman B (1983) Prenatal diagnosis of adult polycystic kidney disease. Lancet 2:337-338
61. Zerres K, Weiss H, Bulla M, Roth B (1982) Prenatal diagnosis of an early manifestation of autosomal dominant adult-type polycystic kidney disease. Lancet 2:988
62. Fryns JP, Van Den Berghe H (1979) "Adult" form of polycystic kidney disease in neonates. Clin Genet 15:205-206
63. Loh JP, Haller JO, Kassner EG, Aloni A, Glassberg K (1977) Dominantly-inherited polycystic kidneys in infants: Association with hypertrophic pyloric stenosis. Pediatr Radiol 6:27-31
64. Fellows RA, Leonidas JC, Beatty EC Jr (1976) Radiologic features of "adult type" polycystic kidney disease in the neonate. Pediatr Radiol 4:87-92
65. Chevalier RL, Garland TA, Buschi AJ (1981) The neonate with adult-type autosomal dominant polycystic kidney disease. Int J Pediatr 2:73-77