Diagnostic ultrasound ( PDFDrive )

CHAPTER 39 The Fetal Urogenital Tract 1371
64. Arena F, Arena S, Paolata A, et al. Is a complete urological evaluation
necessary in all newborns with asymptomatic renal ectopia? Int J Urol.
2007;14(6):491-495.
65. Cho JY, Lee YH, Toi A, Macdonald B. Prenatal diagnosis of horseshoe
kidney by measurement of the renal pelvic angle. Ultrasound Obstet Gynecol.
2005;25(6):554-558.
66. Osathanondh V, Potter EL. Pathogenesis of polycystic kidneys. Historical
survey. Arch Pathol. 1964;77:459-465.
67. Avni FE, Garel C, Cassart M, et al. Imaging and classiication of congenital
cystic renal diseases. Am J Roentgenol. 2012;198:1004-1013.
68. Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med.
2011;364(16):1533-1543.
69. Bergmann C. ARPKD and early manifestations of ADPKD: the original
polycystic kidney disease and phenocopies. Pediatr Nephrol. 2015;30(1):
15-30.
70. Dungan JS, Fernandez MT, Abbitt PL, et al. Multicystic dysplastic kidney:
natural history of prenatally detected cases. Prenat Diagn. 1990;10(3):
175-182.
71. Kleiner B, Filly RA, Mack L, Callen PW. Multicystic dysplastic kidney:
observations of contralateral disease in the fetal population. Radiology.
1986;161(1):27-29.
72. Lazebnik N, Bellinger MF, Ferguson JE 2nd, et al. Insights into the pathogenesis
and natural history of fetuses with multicystic dysplastic kidney
disease. Prenat Diagn. 1999;19(5):418-423.
73. van Eijk L, Cohen-Overbeek TE, den Hollander NS, et al. Unilateral
multicystic dysplastic kidney: a combined pre- and postnatal assessment.
Ultrasound Obstet Gynecol. 2002;19(2):180-183.
74. Eckoldt F, Woderich R, Smith RD, Heling KS. Antenatal diagnostic aspects
of unilateral multicystic kidney dysplasia—sensitivity, speciicity, predictive
values, diferential diagnoses, associated malformations and consequences.
Fetal Diagn her. 2004;19(2):163-169.
75. Aslam M, Watson AR, Trent, Anglia MSG. Unilateral multicystic
dysplastic kidney: long term outcomes. Arch Dis Child. 2006;91(10):
820-823.
76. Narchi H. Risk of hypertension with multicystic kidney disease: a systematic
review. Arch Dis Child. 2005;90(9):921-924.
77. Narchi H. Risk of Wilms tumour with multicystic kidney disease: a systematic
review. Arch Dis Child. 2005;90(2):147-149.
78. Hains DS, Bates CM, Ingraham S, Schwaderer AL. Management and etiology
of the unilateral multicystic dysplastic kidney: a review. Pediatr Nephrol.
2009;24:233-241.
79. Heidet L, Decramer S, Pawtowski A, et al. Spectrum of HNF1B mutations
in a large cohort of patients who harbor renal diseases. Clin J Am Soc
Nephrol. 2010;5(6):1079-1090.
80. Beck AD. he efect of intra-uterine urinary obstruction upon the development
of the fetal kidney. J Urol. 1971;105(6):784-789.
81. Glazer GM, Filly RA, Callen PW. he varied sonographic appearance of
the urinary tract in the fetus and newborn with urethral obstruction.
Radiology. 1982;144(3):563-568.
82. Harrison MR, Filly RA. he fetus with obstructive uropathy: pathophysiology,
natural history, selection and treatment. In: Harrison MR, Golbus MS, Filly
RA, editors. he unborn patient: prenatal diagnosis and treatment. 2nd ed.
Philadelphia: Saunders; 1991. p. 328-393.
83. Ingraham SE, Saha M, Carpenter AR, et al. Pathogenesis of renal injury in
the megabladder mouse: a genetic model of congenital obstructive nephropathy.
Pediatr Res. 2010;68(6):500-507.
84. Mahony BS, Filly RA, Callen PW, et al. Fetal renal dysplasia: sonographic
evaluation. Radiology. 1984;152(1):143-146.
85. Estrof JA, Mandell J, Benacerraf BR. Increased renal parenchymal echogenicity
in the fetus: importance and clinical outcome. Radiology.
1991;181(1):135-139.
86. Avni FE, Garel L, Cassart M, et al. Perinatal assessment of hereditary cystic
renal diseases: the contribution of sonography. Pediatr Radiol.
2006;36(5):405-414.
87. Chaumoitre K, Brun M, Cassart M, et al. Diferential diagnosis
of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies:
a multicenter study. Ultrasound Obstet Gynecol. 2006;28(7):911-
917.
88. Reuss A, Wladimirof JW, Stewart PA, Niermeijer MF. Prenatal diagnosis
by ultrasound in pregnancies at risk for autosomal recessive polycystic
kidney disease. Ultrasound Med Biol. 1990;16(4):355-359.
89. Barth RA, Guillot AP, Capeless EL, Clemmons JJ. Prenatal diagnosis of
autosomal recessive polycystic kidney disease: variable outcome within one
family. Am J Obstet Gynecol. 1992;166(2):560-561.
90. Zerres K, Mucher G, Becker J, et al. Prenatal diagnosis of autosomal recessive
polycystic kidney disease (ARPKD): molecular genetics, clinical experience,
and fetal morphology. Am J Med Genet. 1998;76(2):137-144.
91. Guay-Woodford LM, Bissler JJ, Braun MC, et al. Consensus expert recommendations
for the diagnosis and management of autosomal recessive
polycystic kidney disease: report of an international conference. J Pediatr.
2014;165(3):611-617.
92. Pretorius DH, Lee ME, Manco-Johnson ML, et al. Diagnosis of autosomal
dominant polycystic kidney disease in utero and in the young infant. J
Ultrasound Med. 1987;6(5):249-255.
93. Brun M, Maugey-Laulom B, Eurin D, et al. Prenatal sonographic patterns
in autosomal dominant polycystic kidney disease: a multicenter study.
Ultrasound Obstet Gynecol. 2004;24(1):55-61.
94. Cornec-Le Gall E, Audrezet MP, Le Meur Y, et al. Genetics and pathogenesis
of autosomal dominant polycystic kidney disease: 20 years on. Hum Mutat.
2014;35(12):1393-1406.
95. Fick GM, Johnson AM, Strain JD, et al. Characteristics of very early onset
autosomal dominant polycystic kidney disease. J Am Soc Nephrol.
1993;3(12):1863-1870.
96. MacDermot KD, Saggar-Malik AK, Economides DL, Jefery S. Prenatal
diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting
in utero and prognosis for very early onset disease. J Med Genet.
1998;35(1):13-16.
97. Boyer O, Gagnadoux MF, Guest G, et al. Prognosis of autosomal dominant
polycystic kidney disease diagnosed in utero or at birth. Pediatr Nephrol.
2007;22(3):380-388.
98. Audrézet MP, Corbiere C, Lebbah S, et al. Comprehensive PKD1 and PKD2
mutation analysis in prenatal autosomal dominant polycystic kidney disease.
J Am Soc Nephrol. 2016;27(3):722-729.
99. Decramer S, Parant O, Beauils S, et al. Anomalies of the TCF2 gene are
the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol.
2007;18(3):923-933.
100. Madariaga L, Morinière V, Jeanpierre C, et al. Severe prenatal renal anomalies
associated with mutations in HNF1B or PAX2 genes. Clin J Am Soc Nephrol.
2013;8(7):1179-1187.
101. Sepulveda W, Sebire NJ, Souka A, et al. Diagnosis of the Meckel-Gruber
syndrome at eleven to fourteen weeks’ gestation. Am J Obstet Gynecol.
1997;176(2):316-319.
102. Nyberg DA, Hallesy D, Mahony BS, et al. Meckel-Gruber syndrome.
Importance of prenatal diagnosis. J Ultrasound Med. 1990;9(12):
691-696.
103. Ickowicz V, Eurin D, Maugey-Laulom B, et al. Meckel-Gruber syndrome:
sonography and pathology. Ultrasound Obstet Gynecol. 2006;27:
296-300.
104. Avni FE, Hall M. Renal cystic diseases in children: new concepts. Pediatr
Radiol. 2010;40(6):939-946.
105. Tsatsaris V, Gagnadoux MF, Aubry MC, et al. Prenatal diagnosis of bilateral
isolated fetal hyperechogenic kidneys. Is it possible to predict long term
outcome? BJOG. 2002;109(12):1388-1393.
106. Emmanuelli V, Lahoche-Manucci A, Holder-Espinasse M, et al. Prenatal
diagnosis of hyperechogenic kidneys: a study of 17 cases. J Gynecol Obstet
Biol Reprod (Paris). 2010;39(8):637-646.
107. Al-Hamed MH, Kurdi W, Alsahan N, et al. Genetic spectrum of Saudi
Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes
using a targeted renal gene panel. J Med Genet. 2016;53(5):
338-347.
108. Carr MC, Benacerraf BR, Estrof JA, Mandell J. Prenatally diagnosed bilateral
hyperechoic kidneys with normal amniotic luid: postnatal outcome. J Urol.
1995;153(2):442-444.
109. Mashiach R, Davidovits M, Eisenstein B, et al. Fetal hyperechogenic kidney
with normal amniotic luid volume: a diagnostic dilemma. Prenat Diagn.
2005;25:553-558.