Zusammenfassung
In dem folgenden Kapitel sollen humangenetische Gesichtspunkte urologischer Krankheitsbilder des Kindesalters dargestellt werden. Der Urologe und Pädiater sieht sich nicht selten Kindern gegeüber, die eine isolierte urogenitale Fehlbildung aufweisen. Er wird von seiten der Eltern mit der Frage konfrontiert, ob weitere Kinder in gleicher oder ähnlicher Weise betroffen sein könnten. Die Angabe von Wiederholungsrisiken erfüllt hier wichtige Aufgaben. In gleicher Weise wenden sich Personen mit urogenitalen Fehlbildungen oder Funktionsstörungen an ihn mit der Sorge, welches Wiederholungsrisiko für eigene Kinder resultiert. Diese Ängste und Sorgen sind dabei selbstverständlich von dem Grad der körperlichen und funktionellen Beeinträchtigung abhängig, die aus der jeweiligen Erkrankung resultiert.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Literatur
Aarskog D (1970) Clinical and cytogenetic studies in hypospadias. Acta Paediatr Scand (Suppl) 203:1–62
Abbeele van den AD, Treves ST, Lebowitz RL, Bauer S, Davis RT, Retik A, Colodny A (1987) Vesicoureteral reflux in asymptomatic siblings of patients with known reflux: radionuclide cystography. Pediatrics 79:147–153
Abrams HJ (1975) Familial crytorchidism. Letter to the Editor. Urology 5:849
Abrams HJ, Sutton AP, Buchbinder MI (1980) Ureteroceles in siblings. J Urol 124:135
Aggarwal VK, Verrier Jones K (1989) Vesicoureteric reflux: screening of first degree relatives. Arch Dis Child 64:1538–1541
Alon US (1995) Nocturnal enuresis. Pediatr Nephrol 9:94–103
Anderson PAM, Rickwood AMK (1991) Features of primary vesicoureteric reflux detected by prenatal sonography. Br J Urol 67:267–271
Arap S, Nahas WC, Giron AM, Bruschini H, Mitre AI (1988) Incontinent epispadias: Surgical treatment of 38 cases. J Urol 140:577–581
Arnell H, Hjälmâs K, Jägervall M, Läckgren G, Stenberg A, Bengtsson B, Wassén C, Emahazion T, Annerén G, Petterson U, Sundvall M, Dahl N (1997) The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q. J Med Genet 34:360–365
Atiyeh B, Husmann D, Baum M (1992) Contralateral renal abnormalities in multicystic-dysplastic kidney disease. J Pediatr 121:65–67
Atiyeh B, Husmann D, Baum M (1993) Contralateral renal abnormalities in patients with renal agenesis and noncystic renal dysplasia. Pediatrics 91:812–815
Atwell JD, Cook PL, Howell CJ, Hyde I, Parker BC (1974) Familial incidence of bifid and double ureters. Arch Dis Child 49:390–393
Atwell JD (1985) Familial pelviureteric junction hydronephrosis and its association with a duplex pelvicaliceal system and vesicoureteric reflux. A family study. Br J Urol 57:365–369
Avellán L (1977) On aetiological factors in hypospadias. Scand J Plast Reconstr Surg 11:115–123
Avni EF, Thoua Y, Lalmand B, Didier F, Droulle P, Schulman CC (1987) Multicystic dysplastic kidney: Natural history from in utero diagnosis and postnatal followup. J Urol 138:1420–1424
Ayalon A, Shapiro A, Rubin SZ, Schiller M (1979) Ureterocele—a familial congenital anomaly. Urology 13:551–553
Bailey RR, Janus E, McLoughlin K, Lynn KL, Abbott GD (1984) Familial and genetic data in reflux nepropathy. In: Hodson CJ, Hepinstall RM, Winberg J (Hrsg) Reflux nephropathy update 1983. Karger, London, S 40–51
Barnes DG, McGeorge AM (1989) The duplex ureter in Burnley, Pendle and Rossendale. Br J Urol 64:345–346
Bauer SB, Bull MJ, Retik AB (1979) Hypospadias: a familial study. J Urol 121,474–477
Bonnet JP, Aigrain Y, Ferkadji L (1997) Cystic dysplasia of the testis with ipsilateral renal agenesis. A case report and review of the literature. Eur J Pediatr Surg 7:57–59
Bonnet JP, Aigrain Y, Ferkadji L (1997) Cystic dysplasia of the testis with ipsilateral renal agenesis. A case report and review of the literature. Eur J Pediatr Surg 7:57–59
Borer JG, Glassberg KI, Kassner EG, Schulsinger DA, Mooppan UMM (1994) Unilateral muticystic dysplasia in 1 component of a horsehoe kidney: case reports and review of the literature. J Urol 152:1568–1571
Bouachrine H, Lemelle JL, Didier F, Schmitt M (1996) A follow-up study of pre-natally detected primary vesico-ureteric reflux: a review of 61 patients. Br J Urol 78:936–939
Buchta RM, Viseskul C, Gilbert EF, Sarto GE, Opitz JM (1973): Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilk 115,111–129
Bugge M (1981) Monozygotic twins discordant for exstrophy of the urinary bladder. J Med Genet 18:139–141
Buonomo C, Treves ST, Jones B, Summerville D, Bauer S, Retik A (1993) Silent renal damage in symtom-free siblings of children with vesicoureteral reflex: Assessment with technetium Tc 99 m dimercaptosuccinic acid scintigraphy. J Pediatr 122:721–723
Burger RH (1972) A theory on the nature of transmission of congenital vesicoureteral reflux. J Urol 108:249–254
Cain DR, Griggs D, Lackey DA, Kagan BM (1974) Familial renal agenesis and total dysplasia. Am J Dis Child 128:377–380
Carter CO, Evans K, Pescia G (1979) A family study of renal agenesis. J Med Genet 16:176–188
Carter CO (1984) The genetics of urinary tract malformations. J Genet Hum 32:23–29
Chapman DJ, Bailey RR, James ED, Abbott GD, Lyna KL (1985) Vesicoureteric reflux: segregation analysis. Am J Med Genet 20:577–584
Chen YC, Woolley PV, Jr (1971) Genetic studies on hypospadias in males. J Med Genet 8;153–159
Cohen B, Goldman SM, Kopilnick M, Khurana SV, Salik JO (1978) Ureteropelvic junction obstruction: its occurrence in 3 members of s single family. J Urol 120:361–364
Connolly LP, Treves ST, Connolly SA, Zurakowski D, Share JC, Bar-Sever Z, Mitchell KD, Bauer SB (1997) Vesicoureteral reflux in children: incidence and severity in siblings. J Urol 157:2287–2290
Coplen DE, Duckett JW (1995) The modern approach to ureteroceles. J Urol 153:166–171
Cuckow PM, Dinneen MD, Risdon RA, Ransley PG, Duffy PG (1997) Long-term renal function in the posterior urethral valves, unilateral reflux and renal dysplasia syndrome. J Urol 158:1004–1007
Czeizel A, Tinneen MD, Risdon RA, Ransley PG, Duffy PG (1997) Long-term renal function in the posterior uDees JE (1960) Prognosis of the solitary kidney. J Urol 83:550–552
Devriendt K, Fryns JP (1995) Genetic locus on chromosome 6p for multicystic renal dysplasia, pelviureteral junction stenosis, and vesicoureteral reflux. Am J Med Genet 59:396–397
Dewald GW, Kelalis PP, Gordon H (1977) Chromosomal studies in cryptorchidism. J Urol 117:110–112
Deweerd JH, Feeney DP (1967) Bilateral ureteral ectopia with urinary incontinence in a mother and daughter. J Urol 98:335–336
Donohue RE, Fauver HE (1989): Unilateral absence of the vas deferens. A useful clinical sign. JAMA 261:1180–1182
Donohue RE, Utley WLF, Maling TM (1973): Excretory urography in asymptornatic boys with cryptorchidism. J Urol 109:912–916
Dougall AJ, Maclean N, Wilkinson AW (1974) Histology of the maldescended testis at operation. Lancet 1:771–774
Drake MJ, Quinn FMJ (1996) Absent vas deferens and ipsilateral multicystic dysplastic kidney in a child. Br J Urol 77:756–757
Eiberg H, Berendt J, Mohr J (1995) Assignment of dominant inherited nocturnal enuresis (ENUR1) to chromosome 13q. Nature Genet 10:354–356
Emanuel B, Nachman R, Aronson N, Weiss H (1974) Congenital solitary kidney. A review of 74 cases. Am J Dis Child 127:17–19
Fernbach SK, Feinstein KA, Spencer K, Lindstrom CA (1997) Ureteral duplication and its complications. Radiographics 17:109–127
Flack CE, Bellinger MF (1993) The multicystic dysplastic kidney and contralateral. vesicoureteral. reflux: protection of the solitary kidney. J Urol 150:1873–1874
Fried K, Yuval E, Eidelman A, Beer S (1975) Familial primary vesicoureteral reflux. Clin Genet 7:144–147
Frydman M, Greiber C, Cohen HA (1985) Uncomplicated familial hypospadias: evidence for autosomal recessive inheritance. Am J Med Genet 21:51–55
Fryns JP, Kleczkowska A, Moerman P, Vandenberghe K (1993) Hereditary hydronephrosis and the short arm of chromosome 6. Hum Genet 91:514–515
Geffher ME, Lippe BM (1981) Genetic and endocrinologic syndromes associated with crytorchidism. In : Fonkalsrud EW, Mengel W (Hrsg) The undescended testis. Year Book Medical Publishers, Chicago, S 135–143
Gordon AC, Thomas DFM, Arthur RJ, Irving HC (1988) Multicystic dysplastic kidney: Is nephrectomy still appropriate? J Urol 140:1231–1234
Gross RE, Cresson SL (1952) Exstrophy of the bladder: observations from eighty cases. JAMA 149:1640–1644
Hitchcock R, Burge DM (1994) Renal agenesis: an acquired condition? J Pediatr Surgery 29:454–455
Hjertkvist M, Damber JE, Bergh A (1989) Cryptorchidism: a registry based study in Sweden on some factors of possible aetiological. importants. J Epidemiol Community Health 43:324–329
Hogg RJ, Husmann D (1993) The role of family history in predicting response to desmopressin in nocturnal enuresis. J Urol 150:444–445
Hohenfellner R, Walz PH (1986) Primärer and sekundärer Megaureter. In: R (Hrsg) Kinderurologie in Klinik und Praxis, 1. Aufl. Thieme, Stuttgart, New York, S 268–270
Hohenfellner M, Schultz-Lampel D, Lampel A, Steinbach F, Cramer BM, Thüroff JW (1992) Tumor in the horseshoe kidney: clinical implications and review of embryogenesis. J Urol 147:1098–1102 Hurwitz RS, Manzoni GAM, Ransley PG, Stephens FD (1987) Cloacal exstrophy: A report of 34 cases. J Urol 147:1098–1102
Hurwitz RS, Manzoni GAM, Ransley PG, Stephens FD (1987) Cloacal exstrophy: A report of 34 cases. J Urol 138:1060–1064
Ives E, Coffey R, Carter CO (1980) A family study of bladder exstrophy. J Med Genet 17:139–141
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
Jerkins GR, Noe HN (1982) Familial vesicoureteral reflux: a prospective study. J Urol 128:774–778
John Radcliffe Hospital Cryptorchidism Study Group (1992) Cryptorchidism: a prospective study of 7500 consecutive male births, 1984–1988. Arch Dis Child 67:892–899
Johnson DK, Perlmutter AD (1980) Single system ectopic ureteroceles with anomalies of the heart, testis and vas deferens. J Urol 123:81–83
Jones IRG, Young ID (1982) Familial incidence of cryptorchidism. J Urol 127:508–509
Kaffman M, Elizur E (1977) Infants who become enuretics: a longitudinal study of 161 Kibbutz children. Monogr Soc Res Child Dev: 2–12
Källné B, Winberg J (1982) An epidemiological study of hypospadias in Sweden. Acta Paediatr Scand 293:1–21
Kaneko K, Suzuki Y, Fukuda Y, Yabuta K, Miyano T (1995) Abnormal contralateral kidney in unilateral multicystic dysplastic kidney disease. Pediatr Radiol 25:275–277
Karmazyn B, Zerin JM (1997) Lower urinary tract abnormalities in children with multicystic dysplastic kidney. Radiology 203:223–226
Kemp T (1940) Hypospadie. In: Erbbiologie und Erbpathologie körperlicher Zustände und Funktionen. Bd II, Innere Krankheiten, 2. Teil. Springer, Berlin
Kenney PJ, Bobbins GL, Ellis DA, Spirt BA (1985) Adrenal glands in patiens with congenital renal anomalies: CT appearance. Radiology 155:181–182
Khuri FJ, Hardy BE, Churchill BM (1981) Urological anomalies associated with hypospadias. Urol Clin North Am 8:565–571
Kramer SA, Kelalis PP (1982) Assessment of urinary continence in epispadias: review of 94 patients. J Urol 128:290–293
Kroovand RL, Weinberg N, Emami A (1977) Posterior urethral valves in identical twins. Pediatrics 60:748
Lattimer JK, Smith MJV (1966) Exstrophy closure. A follow-up on 70 cases. J Urol 95:356–359
Leung HY, Kiely EA (1997) Single ectopic ureterocele associated with ipsilateral renal dysplasia and undescended testis. Scand J Urol Nephrol 31:573–574
Leung TJ, Baird PA, Mc Gillivray B (1985) Hypospadias in British Columbia. Am J Med Genet 21:39–48
Lewy PR, Belman AB (1975) Familial occurrence of nonobsturctive noninfectious vesicoureteral reflux with renal scarring. J Pediatr 86:851–856
Lippe B, Geffner ME, Dietrich RB, Boechat MI, Kangarloo H (1988) Renal malformations in patients with Turner syndrome: Imaging in 141 patients. Pediatrics 82:852–856
Livne DM, Delaune J, Gonzales EJ (1983) Genetic etiology of posterior urethral valves. J Urol 130:781–784
Lowry RB, man MR (1976) Hypospadias in successive generations—possible dominant gene inheritance. Clin Genet 9:285–288
Mackintosh P, Almarhoos G, Heath DA (1989) HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction. Tissue Antigens 34:185–189
Madisson H (1934) Über das Fehlen beider Nieren (Aplasia renum bilateralis). Zentralbl Allg Pathol Pathol Anat 60:1–8
Magee MC, Lucey DT, Fried F (1979) A new embryologic classification for uro-gynecologic malformations: the syndromes of mesonephric duct induced Müllerian deformities. J Urol 121:265–267
Marshall FF (1982) Anomalies associated with cryptorchidism. Urol Clin North Am 9:339–347
Mauer SM, Dobrin RS, Vernier RL (1974) Unilateral and bilateral renal agenesis in monoamniotic twins. J Pediatr 84:236–238
McHale D, Porteous MEM, Wentzel J, Burn J (1996) Further evidence of genetic heterogeneity in hereditary hydronephrosis. Clin Genet 50:491–493
McPherson E, Corey J, Kramer A, Hall JG, Pauli RM, Schimke RN, Tasin MH (1987): Dominantly inherited renal adyplasia. Am J Med Genet 26:863–872
Meridies R, Maar K, Claussen U (1976) Klinisch-genetische Aspekte der Hufeisenniere. Urol Int 31:239–245
Mesrobian HGJ, Rushton HG, Bulas D (1993) Unilateral renal agenesis may result from in utero regression of multicystic renal dysplasia. J Urol 150:793–794
Messelink EJ, Aronson DC, Knuist M, Heij HA, Vos A (1994) Four cases of bladder exstrophy in two families. J Med Genet 31:490–492
Middleton GW, Howards SS, Gillenwater JY (1975) Sex-linked familial reflux. J Urol 114:36–39
Miller K, Goldberg S, Atkin B (1989) Nocturnal enuresis: experience with long-term use of intranasally administered desmopressin. J Pediatr 114:723–726
Noe HN, Wyatt RJ, Peeden JN, Jr, Rivas ML (1992) The transmission of vesicoureteral reflux from parent to child. J Urol 148:1869–1871
Opitz JM (1985) Editoral comment: hypospadias. Am J Med Genet 21:57–60
Page LA (1979) Inheritance of uncomplicated hypospadias. Pediatrics 63:788–790
Paramo PG, Izquierdo L, Paramo P, Jr, Llorente L, Diego A, Paez A, Gomez Ruiz JJ, Uson AC (1991) Genuine hereditary hydronephrosis in a three-generation family. Clinicopathological and genetic implications with a review of the literature. Eur Urol 20:293–300
Peeden JN, Noe HN (1992) Is it practical to screen for familial vesicoureteral reflux within a private pediatric practice? Pediatrics 89:758–760
Phillips DIW, Divall JM, Maskell RM, Barker JP (1987) A geographical focus of duplex ureter. Br J Urol 60:329–331
Prewitt LH, Lebowitz RL (1976) The single ectopic ureter. Am J Roentgenol 127:941–948
Privett JTJ, Jeans WD, Roylance J (1976) The incidence and importance of renal duplication. Clin Radiol 27:521–530
Rackley RR, Angermeier KW, Levin H, Pontes E, Kay R (1994) Renal cell carcinoma arising in a regressed multicystic dysplastic kidney. J Urol 152:1543–1545
Rezvani I, Rettig KR, DiGeorge AM (1976) Inheritance of cryptorchidism. Letter to the Editor. Pediatrics 58:774–775
Riba LW (1936) Ureterocele: with case reports of bilateral ureterocele in identical twins. Br J Urol 8:119–131
Robson WL, Rogers RC, Leung AK (1994) Renal agenesis, multicystic dysplasia, and uretero-pelvic junction obstruction — a common pathogenesis? Am J Med Genet 53:302
Robson WL, Thomason MA, Minette LJ (1998) Cystic dysplasia of the testis associated with multicystic dysplasia of the kidney. Urology 51:477–479
Roodhooft AM, Birnholz JC, Holmes LB (1984): Familial nature of congential absence and severe dysgenesis of both kidneys. N Eng J Med 310, 1341–1345
Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Byns W, Eccles MR (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 9:358–363
Šantavá A, Utíkalová A, Bártová A, Drábek J, Šantavy J, Scheinar J (1997) Familial hydronephrosis unlinked to the HLA complex. Am J Med Genet 70:118–120
Sasagawa I, Nakada T, Ishigooka M, Sawamura T, Adachi Y, Hashimoto T (1996) Chromosomal anomalies in cryptorchidism. Int Urol Nephrol 28:99–102
Schlegel PN, Shin D, Goldstein M (1996) Urogenital anomalies in men with congenital absence of the vas deferens. J Urol 155:1644–1648
Schmidt ECH, Hartley AA, Bower R (1952) Renal aplasia in sisters. Arch Pathol 54:403–406
Sengar DP, Rashid A, Wolfish NM (1979) Familial urinary tract anomalies. Association with the major histocompatibility complex in man. J Urol 121:194–197
Shapiro E, Lepor H, Jeffs RD (1984) The inheritance of the exstrophy-epispadias complex. J Urol 132:308–310
Sheih CP, Li YW, Liao YJ, Chen WL, Lin JY, Chen SM (1994) Early detection of unilateral occlusion of duplicated Müllerian ducts: the use of serial pelvic sonography for girls with renal agenesis. J Urol 151:708–710
Shelton TB, Noe HN (1985) The role of excretory urography in patients with hypospadias. J Urol 134:97–99
Song JT, Ritchey ML, Zerin JM, Bloom DA (1995) Incidence of vesicoureteral reflux in children with unilateral renal agenesis. J Urol 153:1249–1251
Sfrensen HR (1953) Hypospadias: with special reference to aetiology. In: Opera ex Domo Biol Hered Hum Univ Hafniensis, vol 31. Munksgaard, Kopenhagen
Sourtiz S, Damry N, Janssen F, Perlmutter N (1994) Ureteral quadruplication: the fourth case report. Pediatr Radiol 24:604–605
Squiers EC, Morden RS, Bernstein J (1987) Renal multicystic dysplasia: an occasional manifestation of the hereditary renal adysplasia syndrome. Am J Med Genet 3(Suppl):279–284
Steele BT, Robitaille P, DeMaria J, Grignon A (1989) Follow-up evaluation of prenatally recognized vesicoureteric reflux. J Pediatr 115:95–96
Stringer MD, Duffy PG, Ransley PG (1994) Inguinal hernias associated with bladder exstrophy, Br J Urol 73:308–309
Sweet RA, Schrott HG, Kurland R, Culp DS (1974) Study of the incidence of hypospadias in Rochester, Minnesota, 1940–1970, and a case-control comparison of possible etiologic factors. Mayo Clin Proc 49:52–58
Tatu W, Brennan RE (1981) Primary megaureter in a mother and daughter. Urol Radiol 3:185–187 Tolorová M (1976) Hypospadias from the genetic point of view: Annotation of experimental results. Acta Chir Plast 18:161–163
Uder M, Siemer S, Gohe D, Schneider G, Kramann B, Humke U (1998) Samenblasenzysten bei ipsilateraler Nierenagenesic. Bildgebende Diagnostik, Klinik und Langzeitverlauf. Radiology 38:766–773
Wan J, Greenfield SP, Ng M, Zerin M, Ritchey ML, Bloom D (1996) Sibling reflux: a dual center retrospective study. J Urol 156:677–679
Wheeler PG, Weaver DD, Obeime MO, Vance GH, Bull MJ, Escobar LF (1997) Urorectal septum malformation sequence: Report of thirteen additional cases and review of the literature. Am J Med Genet 73:456–462
Whitaker J, Danks DM (1966) A study of the inheritance of duplication of the kidneys and ureters. J Urol 195:176–178
Whitaker RH, Hunt GM (1987) Incidence and distribution of renal anomalies in patients with neural tube defects. Eur Urol 13,322–323
Yamaguchi T, Kitada S, Osada Y (1991) Chromosomal anomalies in cryptorchidism and hypospadias. Urol Int 47:60–63
Zaontz MR, Packer MG (1997) Abnormalities of the external genitalia. Pediatr Clin North Am 44:1267–1297
Zerin JM, Ritchey ML, Chang ACH (1993) Incidental vesicoureteral reflux in neonates with antenatally detected hydronephrosis and other renal abnormalities. Radiology 187:157–160
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2000 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Wullich, B. (2000). Genetik isolierter urogenitaler Fehlbildungen und Harntransportstörungen. In: Wullich, B., Zang, K.D. (eds) Genetik von Krankheiten des Urogenitalsystems. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59589-9_8
Download citation
DOI: https://doi.org/10.1007/978-3-642-59589-9_8
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-64039-1
Online ISBN: 978-3-642-59589-9
eBook Packages: Springer Book Archive