Advertisement

Anomalien des Urogenitalsystems im Rahmen multipler Fehlbildungen

  • J. Mücke
  • J. Kunze

Zusammenfassung

Morphologische und funktionelle Störungen des menschlichen Urogenitaltrakts sind besonders häufig mit Minor- und Majoranomalien anderer Entwicklungsfelder verknüpft. Beinah synchron laufen während der Embryonalentwicklung ähnliche epithelial-mesenchymale Interaktionen auch in anderen Organsystemen ab, die dann in gleicher Weise störanfällig sind. Auch das für die Entwicklung des Urogenitaltraktes wichtige Wechselspiel von Testosteron, Anti-Müller-Hormon und Östrogenen beschränkt sich offenbar nicht nur auf das urogenitale Entwicklungsfeld. Schließlich muß bedacht werden, daß es sich beim Harntrakt um ein exkretorisches Organsystem handelt, bei dem auch Funktionsstörungen der Harnproduktion und -ausscheidung Einfluß auf den Gesamtorganismus nehmen können, wie die PotterSequenz und Prune-belly-Sequenz jeweils eindrucksvoll belegen.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  1. 1.
    Botto LD, Khoury MJ, Mastroiacovo P. et al. (1997) The spectrum of congenital anomalies of the VATER assoziation: an international study. Am J Med Genet 71:8–15PubMedCrossRefGoogle Scholar
  2. 2.
    Briggs GC, Freeman RK, Yaffe SJ (1990) Drugs in Pregnancy and Lactation. 3. Aufl. Williams & Wilkins, BaltimoreGoogle Scholar
  3. 3.
    Canzolari F, Contiero MR, Roncarati E. et al. (1986)Aetiological factors in hypospadias. J Med Genet 23:333CrossRefGoogle Scholar
  4. 4.
    Colwell KA, Yong SL, Baldwin VJ et al. (1992) Caudal dysplasia and sirenomalia: is there evidence for a vascular disruptive mechanism? Proc Greenwood Gen Center 11:74Google Scholar
  5. 5.
    Cross HE, McKusick VA, Breen W (1967) A new oculocerebral syndrome with hypopigmentation. J Pediat 70:398PubMedCrossRefGoogle Scholar
  6. 6.
    De Grouchy J, Gompel A, Salomon-Bernhard Y et al. (1985) Embryonic testicular regression syndrome and severe mental retardation in sibs. Ann Genet (Paris) 28:154–160PubMedGoogle Scholar
  7. 7.
    Eurocat report 6 (1995) Surveillance of congenital anomalies in Europe 1980–1992. Eurocat central registry, Institute of Hygiene and Epidemiology BrusselsGoogle Scholar
  8. 8.
    Fernandes ET, Hollobaugh RS, Young JA et al. (1990)Persistent mullerian duct syndrome. Urology 36:516PubMedCrossRefGoogle Scholar
  9. 9.
    Gilbert WM, Nicolaides, KH (1987) Fetal omphalocele:associated malformations and chromosomal defects. Obstet Gynecol 70:633PubMedGoogle Scholar
  10. 10.
    Goodman RM, Gorlin RJ (1983) Making a diagnosis and its implications. In: Goodman RM, Gorlin RJ: The Malformed Infant and Child. Oxford Univ. Press, Oxford New York, S 3Google Scholar
  11. 11.
    Goeminne L. (1968) A new probably X-linked inherited syndrome: congenital muscular torticollis,multiple keloids, cryptorchism und renal dysplasia. Acta Genet Med Gemellol 17: 439–467PubMedGoogle Scholar
  12. 12.
    Hall JG, Morgan A, Blizzard RM (1975) Familial congenital anorchia. BDOAS XI(4):115.Google Scholar
  13. 13.
    Hecker WC (1998) Verborgener Penis. Sozialpädiatrie 20:80Google Scholar
  14. 14.
    International clearinghouse for birth defects monitoring systems (1991): Congenital malformations worldwide. Elsevier Science Publishers, Amsterdam-New York-OxfordGoogle Scholar
  15. 15.
    Jonson VP, Munzon DP (1990) A new syndrome of aphalagy,hemivertebrae, and urogenital-intsestinal Dysgenesis. Clin Genet 38:346CrossRefGoogle Scholar
  16. 16.
    Kouseff BG, Montnegro R, Nichols P et al. (1987) Renal anomalies with cerebral hypolasia and intrauterine growth retardation: a new autosomal recessive syndrome? Proc Greenwood Genet Center 5:114Google Scholar
  17. 17.
    Lubinsky MS (1994) Properties od Associations: Identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations. Am J Med Genet 49:21–25PubMedCrossRefGoogle Scholar
  18. 18.
    Lurie IW, Ferencz C (1997) VACTERL-Hydrocephaly, DK-Phocomelia, and cerebro-cardio-radio-reno-rectal community. Am J Med Genet 70:144–149PubMedCrossRefGoogle Scholar
  19. 19.
    Lurie IW, Lazjuk GI, Korotkowa IA et al. (1991) The cerebro-reno-digital syndromes: a new community. Clin Genet 39:104PubMedCrossRefGoogle Scholar
  20. 20.
    Martínez-Frías ML, Fías JL, Opitz JM (1998) Errors of morphogenesis and developmental field theory. Am J Med Genet 76:291–296PubMedCrossRefGoogle Scholar
  21. 21.
    McGillivray : Male genital system. In: Stevenson RE, Hall JG, Goodman RM (1993) Human Malfor­mations and Related Anomalies. Oxford University Press, New York—OxfordGoogle Scholar
  22. 22.
    McKusick VA (1997) Mendelian Inheritance in Man. 13th ed. The Johns Hopkins University Press, Baltimore, London.Google Scholar
  23. 23.
    Méhes K (1989) Minor malformations in the neonate. Akadémiai kiad Budapest 1989Google Scholar
  24. 24.
    Mücke J, Wiedemann H. -R. (1993) Syndromzuordnung in der Praxis. Hinweise zum Vorgehen. pädiat prax 45:585–593Google Scholar
  25. 25.
    Neto RM, Castilla EE, Paz JE (1981) Hypospadias: an epidemiological study in Latin America. Am J Med Genet 10:5CrossRefGoogle Scholar
  26. 26.
    Opitz JM (1982) The developmental field concept in clinical genetics. J Pediat 101:805PubMedCrossRefGoogle Scholar
  27. 27.
    Opitz JM (1994) Associations and Syndromes: terminology in clinical genetics und birth defects epidemiology. J Med Genet 49:14–20CrossRefGoogle Scholar
  28. 28.
    Osathanondh V, Potter EL (1964) Pathogenesis of polyzystic kidneys. Arch Path 77:459–512PubMedGoogle Scholar
  29. 29.
    Peters H, Pontz BF (1988) Klinisches Bald und Verlauf bei Kindern mit CHARGE-Assoziation. Mschr Kinderheilk 136:690–693Google Scholar
  30. 30.
    Polin RA, Ditmar MF (1998) Pediatric Secrets. CV Mosby, St. Louis, S 333Google Scholar
  31. 31.
    Queißer-Luft A, Schlaefer K, Schicketanz KH et al. (1994) Erfassung angeborener Fehlbildungen bei Neugeborenen: Das Mainzer Modell. Dt. Ärztebl 91: 747–750Google Scholar
  32. 32.
    Queißer-Luft A, Stolz G, Kieninger-Baum D et al. (1999) Ist ein risikoselektives Harnwegs-Fehlbil­dungs-Screeing sinnvoll? (im Druck)Google Scholar
  33. 33.
    Rizzo N, Gabrielli S, Pilu G, et al. (1987) Prenatal diagnosis and obstetrical management of multicystic dysplastic kidney disease. Prenat Diagn 7:109PubMedCrossRefGoogle Scholar
  34. 34.
    Shepard TH (1989) Catalog of Teratogenic Agents. 6. Aufl. John Hopkins University Press, BaltimoreGoogle Scholar
  35. 35.
    Spranger J, Benirschke K. Hall JG et al. (1982) Errors of morphogenis: concepts and terms. J Pediatr 100:160–165PubMedCrossRefGoogle Scholar
  36. 36.
    Stevenson RE, Jones KL, Phelan MC et al. (1986) Vascular steal. The pathogenetic mechanism pro­ducing sirenomelia and associated defects of the viscera and soft tissues. Pediatrics 78:451PubMedGoogle Scholar
  37. 37.
    Stevenson RE, Phelan MC, Said RA (1989) Defects of the abdominal wall: association with vascular steal. Proc Greenwood Genet Center 8:15Google Scholar
  38. 38.
    Van Allen MI (1993) Urinary Tract. In: Stevenson RE, Hall JG, Goodman RM (Hrsg) Human Malformations and Related Anomalies. Oxford University Press, New York—OxfordGoogle Scholar
  39. 39.
    Van Allen MI (1996) Congenital Disorders of the Urinary Tract. In: Rimoin DL,Connor JM, Pyeritz RE: Emery and Rimoin’s Principles and Practice of Medical Genetics. Third edition. Churchill Livingstone New York-Edinburgh-London-Madrid-Melbourne-San Francisco-TokioGoogle Scholar
  40. 40.
    Van Allen MI, Smith DW, Shepard TH (1983) Twin reversed atrial perfusion (TRAP) sequence: a study of 14 twin pregnancies with acardius. Semin PerinatOl 7:285PubMedGoogle Scholar
  41. 41.
    Choudhury SR, Maji Bp (1993) Penile agenesis: an unusual variant. Intern. Urol Nephrol 25(l):71–76CrossRefGoogle Scholar
  42. 42.
    Evans JA, Erdile LB, Greenberg CR, Chudley AE (1999) Agenesis of the penis: Patterns of associated malformations. Am J Med Genet 84:47–55PubMedCrossRefGoogle Scholar
  43. 43.
    Ozbey H, Ozbay N (1997) Immediate reconstraction for penile agenesis. J Pediatr Surg 32:938–939PubMedCrossRefGoogle Scholar
  44. 44.
    Diamond M, Sigmundson HK (1997) Sex assignment at birth: long term review and clinical implications. Arch Pediatr Adolesc Med 151:298–304PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2000

Authors and Affiliations

  • J. Mücke
  • J. Kunze

There are no affiliations available

Personalised recommendations