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The Urinary System

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Fetal and Neonatal Pathology

In the perinatal period, congenital abnormalities of the kidneys and urinary tract are of major importance while specific acquired lesions and tumors are comparatively rare. Acquired problems associated with prematurity, such as acute tubular necrosis, cortical necrosis, and nephrocal-cinosis, are also quite common. The recognition that anomalies of the urogenital tract are often associated with other anomalies of the urogenital tract has led to the term CAKUT—congenital anomalies in the kidney and urinary tract (Nakai et al. 2003; Rodriguez 2004). Many congenital abnormalities are better appreciated by an understanding of normal renal development, and the pathophysiology of many of these anomalies are being identified at the molecular level (Nakanishi and Yoshikawa 2003). For more detailed information, the reader is advised to also consult recent embryology texts and reviews (Glassberg 2002; Levin and Schlussel 2003; Bouchard 2004). The increasingly sophisticated images obtained by the antenatal ultrasound screening program has increased the antenatal detection of renal abnormalities, allowing better management of these patients and showing the development and changing features of these diseases during gestation (Bhide et al. 2005). Tumors of the kidney in the neonate are covered in Chapter 15.

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References

  • Afshar K, Malek R, Bakhshi M, et al. (2005) Should the presence of congenital para-ureteral diverticulum affect the management of vesicoureteral reflux. J Urol 174:1590–1593.

    PubMed  CAS  Google Scholar 

  • Ahmed SF, Dobbie R, Finlayson AR, Gilbert J, Young-son G, Chalmers J, Stone D (2004) Prevalence of hypospadias and other genital anomalies among singleton births, 1988–1997, in Scotland. Arch Dis Child (Fetal Neonatal Ed) 89:F149–151.

    Google Scholar 

  • Allanson JE, Hunter AG, Mettler GS, Jimenez C (1992) Renal tubular dysgenesis: a not uncommon autoso-mal recessive syndrome: a review. Am J Med Genet 43:811–814.

    PubMed  CAS  Google Scholar 

  • Allanson JE, Pantzar JT, MacLeod PM (1983) Possible new autosomal recessive syndrome with unusual renal histopathological changes. Am J Med Genet 16:57–60.

    PubMed  CAS  Google Scholar 

  • Alpert SA, Noe HN (2004) Furosemide nephrolithiasis causing ureteral obstruction and urinoma in a preterm neonate. Urology 64:589.

    PubMed  Google Scholar 

  • Amann K, Plank C, Dotsch J (2004) Low nephron number—a new cardiovascular risk factor in children? Pediatr Nephrol 19:1319–1323.

    PubMed  Google Scholar 

  • Ansley SJ, Badano JL, Blacque OE, et al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425:628–633.

    PubMed  CAS  Google Scholar 

  • Bae KS, Jeon SH, Lee SJ, et al. (2005) Complete duplication of bladder and urethra in coronal plane with no other anomalies: case report with review of the literature. Urology 65:388.

    PubMed  Google Scholar 

  • Barr M Jr, Cohen MM Jr (1991) ACE inhibitor fetopathy and hypocalvaria: the kidney-skull connection. Teratology 44:485–495.

    PubMed  CAS  Google Scholar 

  • Bergmann C, Senderek J, Schneider F, et al. (2004) PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat 23:487–495.

    PubMed  CAS  Google Scholar 

  • patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int 67:829–848.

    PubMed  CAS  Google Scholar 

  • Bernstein J, Barajas L (1994) Renal tubular dysgenesis: evidence of abnormality in the renin-angiotensin system. J Am Soc Nephrol 5:224–227.

    PubMed  CAS  Google Scholar 

  • Bernstein J, Landing BH (1989) Glomerulocystic kidney diseases. Prog Clin Biol Res 305:27–43.

    PubMed  CAS  Google Scholar 

  • Bernstein J, Meyer R (1964) Some speculations on the nature and significance of developmentally small kidneys (renal hypoplasia). Nephron 47:137–143.

    PubMed  CAS  Google Scholar 

  • Berrocal T, Lopez-Pereira P, Arjonilla A, Gutierrez J (2002) Anomalies of the distal ureter, bladder, and urethra in children: embryologic, radiologic, and pathologic features. Radiographics 22:1139–1164.

    PubMed  Google Scholar 

  • Bhide A, Sairam S, Farrugia MK, Boddy SA, Thilagana-than B (2005) The sensitivity of antenatal ultrasound for predicting renal tract surgery in early childhood. Ultrasound Obstet Gynecol 25:489–492.

    PubMed  CAS  Google Scholar 

  • Bisceglia M, Creti G (2005) AMR series unilateral (localized) renal cystic disease. Adv Anat Pathol 12:227– 232.

    PubMed  Google Scholar 

  • Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A (2006) Renal cystic diseases: a review. Adv Anat Pathol 13:26–56.

    PubMed  Google Scholar 

  • Bouchard M (2004) Transcriptional control of kidney development. Differentiation 72:295–306.

    PubMed  CAS  Google Scholar 

  • Brun M, Maugey-Laulom B, Eurin D, Didier F, Avni EF (2004) Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study. Ultrasound Obstet Gynecol 24:55–61.

    PubMed  CAS  Google Scholar 

  • Buchta RM, Viseskul C, Gilbert EF, Sarto GE, Opitz JM (1973) Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilkd 115:111– 129.

    PubMed  CAS  Google Scholar 

  • Burk D, Beaudoin AR (1977) Arsenate-induced renal agenesis in rats. Teratology 16:247–259.

    PubMed  CAS  Google Scholar 

  • Capisonda R, Phan V, Traubuci J, Daneman A, Balfe JW, Guay-Woodford LM (2003) Autosomal recessive polycystic kidney disease:outcomes from a single-center experience. Pediatr Nephrol 18:119–126.

    PubMed  Google Scholar 

  • Casale P, Grady RW, Waldhausen JH, Joyner BD, Wright J, Mitchell ME (2004) Cloacal exstrophy variants. Can blighted conjoined twinning play a role? J Urol 172:1103–1106.

    Google Scholar 

  • Cohen MM Jr (2005) Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 8:287–304.

    PubMed  Google Scholar 

  • Cohen-Overbeek TE, Wijngaard-Boom P, Ursem NTC, Hop WCJ, Wladimiroff JW, Wolffenbuttel KP (2005) Mild renal pyelectasis in the second trimester: determination of cut-off levels for postnatal referral. Ultrasound Obstet Gynecol 25:378–383.

    PubMed  CAS  Google Scholar 

  • Cremin BJ (1970) Infantile thoracic dystrophy. Br J Radiol 43:199–204.

    PubMed  CAS  Google Scholar 

  • Cunniff C, Jones KL, Phillipson J, Benirschke K, Short S, Wujek J (1990) Oligohydramnios sequence and renal tubular malformation associated with maternal enalapril use. Am J Obstet Gynecol 162: 187–189.

    PubMed  CAS  Google Scholar 

  • Davies JA (2006) The Kidney Development Database. http://golgi.ana.ed.ac.uk/kidhome.html.

    Google Scholar 

  • Delaney V, Mullaney J, Bourke E (1978) Juvenile neph-ronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins. Q J Med 47:281–290.

    PubMed  CAS  Google Scholar 

  • Dewan PA, Ng KP, Ashwood PJ (1998) The relationship of age to pathology in pelviureteric junction obstruction. J Paediatr Child Health 34:384–386.

    PubMed  CAS  Google Scholar 

  • Doroshow LW, Abeshouse BS (1961) Congenital unilateral solitary kidney: report of 37 cases and a review of the literature. Urol Surv 11:219–229.

    PubMed  CAS  Google Scholar 

  • Dressler GR, Deutsch U, Chowdhury K, Nornes HO, Gruss P (1990) Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. Development 109:787–795.

    PubMed  CAS  Google Scholar 

  • Drummond IA, Madden SL, Rohwer-Nutter P, Bell GI, Sukhatme VP, Rauscher FJ 3rd (1992) Repression of the insulin-like growth factor II gene by the Wilms tumor suppressor WT1. Science 257:674–678.

    PubMed  CAS  Google Scholar 

  • Duncomb GJ, Barker AP, Moss TJ, et al. (2002) The effects of overcoming experimental bladder outflow obstruction in fetal sheep. J Matern Fetal Neonatal Med 11:130–137.

    Google Scholar 

  • Eccles MR, Wallis LJ, Fidler AE, Spurr NK, Goodfellow PJ, Reeve AE (1992) Expression of the PAX2 gene in human fetal kidney and Wilms' tumor. Cell Growth Differ 3:279–289.

    PubMed  CAS  Google Scholar 

  • Fain PR, McFann KK, Taylor MR, et al. (2005) Modifier genes play a significant role in the phenotypic expression of PKD1. Kidney Int 67:1256–1267.

    PubMed  CAS  Google Scholar 

  • Fetterman GH (1970) Microdissection in the study of normal and abnormal renal structure and function. Pathol Annu 5:173–206.

    PubMed  CAS  Google Scholar 

  • Fraizer GE, Bowen-Pope DF, Vogel AM (1987) Production of platelet-derived growth factor by cultured Wilms' tumor cells and fetal kidney cells. J Cell Physiol 133:169–174.

    PubMed  CAS  Google Scholar 

  • Froster UG, Heinritz W, Bennek J, Horn LC, Faber R (2004) Another case of autosomal dominant exstrophy of the bladder. Prenat Diagn 24:375–377.

    PubMed  CAS  Google Scholar 

  • Gashler AL, Bonthron DT, Madden SL, Rauscher FJ 3rd, Collins T, Sukhatme VP (1992) Human platelet-derived growth factor A chain is transcriptionally repressed by the Wilms tumor suppressor WT1. Proc Natl Acad Sci U S A 89:10984–10988.

    PubMed  CAS  Google Scholar 

  • Glassberg KI (2002) Normal and abnormal development of the kidney: a clinician's interpretation of current knowledge. J Urol 167:2339–2350; discussion 2350–2351.

    PubMed  CAS  Google Scholar 

  • Gribouval O, Gonzales M, Neuhaus T, et al. (2005) Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet 37:964–968.

    PubMed  CAS  Google Scholar 

  • Guarino N, Tadini B, Camardi P, Silvestro L, Lace R, Bianchi M (2004) The incidence of associated uro-logical abnormalities in children with renal ectopia. J Urol 172:1757–1759.

    PubMed  Google Scholar 

  • Habib R, Bois E (1973) Heterogeneity of early onset nephrotic syndromes in infants (nephrotic syndrome “in infants”). Anatomical, clinical and genetic study of 37 cases. Helv Paediatr Acta 28: 91–107.

    PubMed  CAS  Google Scholar 

  • Hein G, Richter D, Manz F, Weitzel D, Kalhoff H (2004) Development of nephrocalcinosis in very low birth weight infants. Pediatr Nephrol 19:616– 620.

    PubMed  Google Scholar 

  • Henske EP (2005) Tuberous sclerosis and the kidney: from mesenchyme to epithelium, and beyond. Pediatr Nephrol 20:854–857.

    PubMed  Google Scholar 

  • Horenstein MG, Manci EA, Walker AB, Dehner LP (2004) Lumbosacral ectopic nephrogenic rest unas-sociated with spinal dysraphism. Am J Surg Pathol 28:1389–1392.

    PubMed  Google Scholar 

  • Izquierdo L, Porteous M, Paramo PG, Connor JM (1992) Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p. Hum Genet 89:557–560.

    PubMed  CAS  Google Scholar 

  • Jain D, Martel M, Reyes-Mugica M, Parkash V (2002) Heterotopic nephrogenic rests in the colon and multiple congenital anomalies: possibly related association. Pediatr Dev Pathol 5:587–591.

    PubMed  Google Scholar 

  • Jain V, Beneck D (2003) Renal tubular dysgenesis in an hydropic fetus with trisomy 21:a case report with literature review. Pediatr Dev Pathol 6:568–572.

    PubMed  Google Scholar 

  • Jaswon MS, Dibble L, Puri S, et al. (1999) Prospective study of outcome in antenatally diagnosed renal pelvis dilatation. Arch Dis Child (Fetal Neonatal Ed) 80:F135–138.

    CAS  Google Scholar 

  • Jenkins D, Bitner-Glindzicz M, Malcolm S, et al. (2005) De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. J Am Soc Nephrol 16:2141–2149.

    PubMed  CAS  Google Scholar 

  • Jones EA, Freedman AL, Ehrlich RM (2002) Megaloure-thra and urethral diverticula. Urol Clin North Am 29:341–348, vi.

    PubMed  Google Scholar 

  • Joshi VV, Kasznica J (1984) Clinicopathologic spectrum of glomerulocystic kidneys: report of two cases and a brief review of literature. Pediatr Pathol 2:171– 186.

    PubMed  CAS  Google Scholar 

  • Kallen K, Castilla EE, Robert E, Mastroiacovo P, Kallen B (2000) OEIS complex—a population study. Am J Med Genet 92:62–68.

    PubMed  CAS  Google Scholar 

  • Keppler-Noreuil KM (2001) OEIS complex (omphalo-cele-exstrophy-imperforate anus-spinal defects): a review of 14 cases. Am J Med Genet 99:271–279.

    PubMed  CAS  Google Scholar 

  • Kiddoo DA, Carr MC, Dulczak S, Canning DA (2004) Initial management of complex urological disorders: bladder exstrophy. Urol Clin North Am 31:417–426.

    PubMed  Google Scholar 

  • Kissane JM (1973) Hereditary disorders of the kidney. II. Hereditary nephropathies. Perspect Pediatr Pathol 1:147–187.

    CAS  Google Scholar 

  • Kouvalainen K, Hjelt L, Hallman N (1962) Placenta in congenital nephrotic syndrome. Ann Paediatr Fenn 8:181–188.

    PubMed  CAS  Google Scholar 

  • Kreidberg JA, Sariola H, Loring JM, et al. (1993) WT-1 is required for early kidney development. Cell 74:679–691.

    PubMed  CAS  Google Scholar 

  • Krishnan A, de Souza A, Konijeti R, Baskin LS (2006) The anatomy and embryology of posterior urethral valves. J Urol 175:1214–1220.

    PubMed  Google Scholar 

  • Langer LO Jr, Nishino R, Yamaguchi A, et al. (1983) Brachymesomelia-renal syndrome. Am J Med Genet 15:57–65.

    PubMed  Google Scholar 

  • Larsson SH, Charlieu JP, Miyagawa K, et al. (1995) Sub-nuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing. Cell 81:391–401.

    PubMed  CAS  Google Scholar 

  • Latini G, De Mitri B, Del Vecchio A, Chitano G, De Felice C, Zetterstrom R (2004) Foetal growth of kidneys, liver and spleen in intrauterine growth restriction: “programming” causing “metabolic syndrome” in adult age. Acta Paediatr 93:1635–1639.

    PubMed  CAS  Google Scholar 

  • Levin ME, Schlussel RN (2003) Molecular genetics of renal development. Curr Urol Rep 4:171–176.

    PubMed  Google Scholar 

  • 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.

    PubMed  CAS  Google Scholar 

  • Manson JM, Carr MC (2003) Molecular epidemiology of hypospadias: review of genetic and environmental risk factors. Birth Defects Res A Clin Mol Teratol 67:825–836.

    PubMed  CAS  Google Scholar 

  • Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla E, Frias JL (2001) Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect. Am J Med Genet 99: 261–269.

    PubMed  CAS  Google Scholar 

  • Martinez-FrĂ­as ML, Prieto D, Prieto L, Bermejo E, RodrĂ­guez-Pinilla E, Cuevas L (2004) Secular decreasing trend of the frequency of hypospadias among newborn male infants in Spain. Birth Defects Res A Clin Mol Teratol 70:75–81.

    PubMed  Google Scholar 

  • Matsell DG, Tarantal AF (2002) Experimental models of fetal obstructive nephropathy. Pediatr Nephrol 17: 470–476.

    PubMed  Google Scholar 

  • McFadden DE, Pantzar JT, Van Allen MI, Langlois S (1997) Renal tubular dysgenesis with calvarial hypo-plasia: report of two additional cases and review. J Med Genet 34:846–848.

    PubMed  CAS  Google Scholar 

  • McNamara MF, McCurdy CM, Reed KL, Philipps AF, Seeds JW (1995) The relation between pulmonary hypoplasia and amniotic fluid volume: lessons learned from discordant urinary tract anomalies in monoamniotic twins. Obstet Gynecol 85:867–869.

    PubMed  CAS  Google Scholar 

  • Mercer ES, Broecker B, Smith EA, Kirsch AJ, Scherz HC, Massad CA (2004) Urological manifestations of Down syndrome. J Urol 171:1250–1253.

    PubMed  Google Scholar 

  • Moerman P, Fryns JP, Sastrowijoto SH, Vandenberghe K, Lauweryns JM (1994) Hereditary renal adysplasia: new observations and hypotheses. Pediatr Pathol 14:405–410.

    PubMed  CAS  Google Scholar 

  • Moldavsky M (2000) Lysozyme immunostaining in renal tubular dysgenesis. Pediatr Dev Pathol 3:200– 201.

    PubMed  CAS  Google Scholar 

  • Morris S, Akima S, Dahlstrom JE, Ellwood D, Kent A, Falk MC (2004) Renal tubular dysgenesis and neonatal hemochromatosis without pulmonary hypoplasia. Pediatr Nephrol 19:341–344.

    PubMed  Google Scholar 

  • Murugasu B, Cole BR, Hawkins EP, Blanton SH, Conley SB, Portman RJ (1991) Familial renal adysplasia. Am J Kidney Dis 18:490–494.

    PubMed  CAS  Google Scholar 

  • Nakai H, Asanuma H, Shishido S, Kitahara S, Yasuda K (2003) Changing concepts in urological management of the congenital anomalies of kidney and urinary tract, CAKUT. Pediatr Int 45:634–641.

    PubMed  Google Scholar 

  • Nakanishi K, Yoshikawa N (2003) Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT). Pediatr Int 45:610–616.

    PubMed  CAS  Google Scholar 

  • Nelson CP, Dunn RL, Wei JT (2005) Contemporary epidemiology of bladder exstrophy in the United States. J Urol 173:1728–1731.

    PubMed  Google Scholar 

  • Ochoa B (2004) Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated. Pediatr Nephrol 19:6–12.

    PubMed  Google Scholar 

  • Olbrich H, Fliegauf M, Hoefele J, et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephro-nophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet 34:455–459.

    PubMed  CAS  Google Scholar 

  • Ong AC, Harris PC (2005) Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney Int 67:1234–1247.

    PubMed  CAS  Google Scholar 

  • Osathanondh V, Potter EL (1963a) Development of human kidney as shown by microdissection. II. Renal pelvis, calyces, and papillae. Arch Pathol 76:277– 289.

    CAS  Google Scholar 

  • Osathanondh V, Potter EL (1963b) Development of human kidney as shown by microdissection. III. Formation and interrelationship of collecting tubules and nephrons. Arch Pathol 76:290–302.

    CAS  Google Scholar 

  • Osathanondh V, Potter EL (1964a) Pathogenesis of polycystic kidneys. Historical Survey. Arch Pathol 77:459–465.

    CAS  Google Scholar 

  • Osathanondh V, Potter EL (1964b) Pathogenesis of polycystic kidneys. Type 1 due to hyperplasia of interstitial portions of collecting tubules. Arch Pathol 77:466–473.

    CAS  Google Scholar 

  • Osathanondh V, Potter EL (1964c) Pathogenesis of polycystic kidneys. Type 2 due to inhibition of ampullary activity. Arch Pathol 77:474–484.

    CAS  Google Scholar 

  • Osathanondh V, Potter EL (1964d) Pathogenesis of polycystic kidneys. Type 3 due to multiple abnormalities of development. Arch Pathol 77:485–501.

    CAS  Google Scholar 

  • Osathanondh V, Potter EL (1964e) Pathogenesis of polycystic kidneys. Type 4 due to urethral obstruction. Arch Pathol 77:502–509.

    CAS  Google Scholar 

  • Osathanondh V, Potter EL (1964f) Pathogenesis of polycystic kidneys. Survey of results of microdissec-tion. Arch Pathol 77:510–512.

    CAS  Google Scholar 

  • Osathanondh V, Potter EL (1966) Development of human kidney as shown by microdissection. IV. Development of tubular portions of nephrons. Arch Pathol 82:391–402.

    CAS  Google Scholar 

  • Pelletier J, Bruening W, Kashtan CE, et al. (1991) Germ-line mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67:437–447.

    PubMed  CAS  Google Scholar 

  • Pierik FH, Burdorf A, Nijman JM, de Muinck Keizer-Schrama SM, Juttmann RE, Weber RF (2002) A high hypospadias rate in The Netherlands. Hum Reprod 17:1112–1115.

    PubMed  Google Scholar 

  • Piscione TD, Rosenblum ND (2002) The molecular control of renal branching morphogenesis: current knowledge and emerging insights. Differentiation 70:227–246.

    PubMed  CAS  Google Scholar 

  • Plachov D, Chowdhury K, Walther C, Simon D, Guenet JL, Gruss P (1990) Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development 110:643–651.

    PubMed  CAS  Google Scholar 

  • Potter EL (1946) Facial characteristics of infants with bilateral renal agenesis. Am J Obstet Gynecol 51: 885–888.

    Google Scholar 

  • Pringle KC, Zuccollo J, Kitagawa H, Koike J, Delahunt B (2003) Renal dysplasia produced by obstructive uropathy in the fetal lamb. Pathology 35:518–521.

    PubMed  Google Scholar 

  • Pritchard-Jones K, Fleming S, Davidson D, et al. (1990) The candidate Wilms' tumour gene is involved in genitourinary development. Nature 346:194–197.

    PubMed  CAS  Google Scholar 

  • Quintero RA (2005) Fetal obstructive uropathy. Clin Obstet Gynecol 48:923–941.

    PubMed  Google Scholar 

  • Rapola J, Kääriäinen H (1988) Polycystic kidney disease. Morphological diagnosis of recessive and dominant polycystic kidney disease in infancy and childhood. APMIS 96:68–76.

    CAS  Google Scholar 

  • Reutter H, Shapiro E, Gruen JR (2003) Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature. Am J Med Genet A 120:215–221.

    Google Scholar 

  • Risdon RA (1971a) Renal dysplasia. I. A clinico-pathological study of 76 cases. J Clin Pathol 24:57– 65.

    CAS  Google Scholar 

  • Risdon RA (1971b) Renal dysplasia. II. A necropsy study of 41 cases. J Clin Pathol 24:65–71.

    Google Scholar 

  • Risdon RA (1981a) Diseases of the kidney and lower urinary tract. In: Berry CL (ed) Paediatric Pathology. Springer, Berlin, pp. 395–450.

    Google Scholar 

  • Risdon RA (1981b) Reflux nephropathy. Diagn Histo-pathol 4:61–70.

    CAS  Google Scholar 

  • Rodriguez MM (2004) Developmental renal pathology: its past, present, and future. Fetal Pediatr Pathol 23:211–229.

    PubMed  Google Scholar 

  • Rolfes DB, Towbin R, Bove KE (1985) Vascular dyspla-sia in a child with tuberous sclerosis. Pediatr Pathol 3:359–373.

    PubMed  CAS  Google Scholar 

  • Roodhooft AM, Birnholz JC, Holmes LB (1984) Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med 310:1341–1345.

    PubMed  CAS  Google Scholar 

  • Roosen-Runge EC (1949) Retardation of post natal development of kidneys in persons with early cerebral lesions. Am J Dis Child 77:185–200.

    PubMed  CAS  Google Scholar 

  • Rossetti S, Strmecki L, Gamble V, et al. (2001) Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am J Hum Genet 68:46–63.

    PubMed  CAS  Google Scholar 

  • Royer P, Habib R, Mathieu H, Courtecuisse V (1962) L'hypoplasie nĂ©nale bilatĂ©rale congĂ©nital avec rĂ©duc-tion du nombre, et hypertrophie des nĂ©phrons chez l'enchant. Ann Pediatr (Paris) 9:133–146.

    CAS  Google Scholar 

  • Sampson JR, Maheshwar MM, Aspinwall R, et al. (1997) Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet 61:843–851.

    PubMed  CAS  Google Scholar 

  • Schultheiss M, Ruf RG, Mucha BE, et al. (2004) No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. Pediatr Nephrol 19: 1340–1348.

    PubMed  Google Scholar 

  • Scott J, Cowell J, Robertson ME, et al. (1985) Insulinlike growth factor-II gene expression in Wilms' tumour and embryonic tissues. Nature 317:260–262.

    PubMed  CAS  Google Scholar 

  • Shakya R, Watanabe T, Costantini F (2005) The role of GDNF/Ret signaling in ureteric bud cell fate and branching morphogenesis. Dev Cell 8:65–74.

    PubMed  CAS  Google Scholar 

  • Shibata S, Nagata M (2003) Pathogenesis of human renal dysplasia: an alternative scenario to the major theories. Pediatr Int 45:605–609.

    PubMed  Google Scholar 

  • Stapleton FB, Bernstein J, Koh G, Roy S 3rd, Wilroy RS (1982) Cystic kidneys in a patient with oral-facial-digital syndrome type I. Am J Kidney Dis 1:288– 293.

    PubMed  CAS  Google Scholar 

  • Stein RJ, Matoka DJ, Noh PH, Docimo SG (2005) Spontaneous perforation of congenital bladder diverticu-lum. Urology 66:881.

    PubMed  Google Scholar 

  • Taxy JB, Filmer RB (1976) Glomerulocystic kidney. Report of a case. Arch Pathol Lab Med 100:186– 188.

    PubMed  CAS  Google Scholar 

  • Verbruggen SC, Wijnen RM, van den Berg P (2004) Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report. J Matern Fetal Neonatal Med 16:140–141.

    PubMed  CAS  Google Scholar 

  • Weksberg R, Shuman C, Smith AC (2005) Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 137:12–23.

    Google Scholar 

  • Wigger HJ, Blanc WA (1977) The prune belly syndrome. Pathol Annu 12:17–39.

    PubMed  Google Scholar 

  • Wigglesworth JS (1984) Perinatal Pathology. WB Saun-ders, Philadelphia.

    Google Scholar 

  • Wilson PD (2004) Polycystic kidney disease. N Engl J Med 350:151–164.

    PubMed  CAS  Google Scholar 

  • Wood HP, Trock BP, Gearhart JP (2003) In vitro fertilization and the cloacal-bladder exstrophy-epispadias complex: is there an association? J Urol 169:1512– 1515.

    PubMed  Google Scholar 

  • Woolf AS, Price KL, Scambler PJ, Winyard PJ (2004) Evolving concepts in human renal dysplasia. J Am Soc Nephrol 15:998–1007.

    PubMed  Google Scholar 

  • Woolf AS, Winyard PJ (2002) Molecular mechanisms of human embryogenesis: developmental pathogenesis of renal tract malformations. Pediatr Dev Pathol 5:108–129.

    PubMed  CAS  Google Scholar 

  • Zerin JM, Baker DR, Casale JA (2000) Single-system ureteroceles in infants and children: imaging features. Pediatr Radiol 30:139–146.

    PubMed  CAS  Google Scholar 

  • Zhang MZ, Mai W, Li C, et al. (2004) PKHD1 protein encoded by the gene for autosomal recessive polycys-tic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. Proc Natl Acad Sci U S A 101:2311–2316.

    PubMed  CAS  Google Scholar 

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© 2007 Springer-Verlag London Limited

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Khong, T.Y., Charles, A.K. (2007). The Urinary System. In: Keeling, J.W., Khong, T.Y. (eds) Fetal and Neonatal Pathology. Springer, London. https://doi.org/10.1007/978-1-84628-743-5_22

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  • DOI: https://doi.org/10.1007/978-1-84628-743-5_22

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