Skip to main content

Fehlentwicklung des ableitenden Harnwegssystems im Fetus

  • Chapter
Book cover Genetik von Krankheiten des Urogenitalsystems

Zusammenfassung

Die ableitenden Harnwege entwickeln sick aus der Kloake. Die Kloake stellt in der 4. Entwicklungswoche den kaudalen Anteil des primitiven Darmrohrs in der Fortsetzung des Enddarms dar. Sie ist damit in ihrer Entstehung eng mit der Abfaltung der Keimscheibe vom Dottersack verknüpft. Unter der Abfaltung der Keimscheibe vom Dottersack versteht man zum einen die seitliche Krümmung der Keimscheibe zum Rohr und damit die ventrale Annäherung der Keimscheibenränder zum vorderen Körperwandverschluß (Abb. 3.1), zum anderen die zephalokaudale Krümmung des Embryo in der Längsachse (Abb. 3.2).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 54.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 69.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  1. Aanpreung P, Beckwith B. Galansky SH, Koyle MA, Sokol RJ (1993) Association of paucity of interlobular bile ducts with prune belly syndrome. J. Pediatr. Gastroenterol. Nutr. 16:81–86

    Article  PubMed  CAS  Google Scholar 

  2. Allera A, Herbst MA, Griffin JE, Wilson JD, Schweikert H-U, McPhaul MJ (1995) Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias. J. Clin. Endocr. Metab. 80:2697–2699

    Article  PubMed  CAS  Google Scholar 

  3. Aterman K, Abaci F (1967) Heterotopic gastric and esophageal tissue in the colon. Am. J. Dis. Child. 113:552–559

    PubMed  CAS  Google Scholar 

  4. Baird PA, MacDonald EC (1981): An epidemiologic study of congenital malformations of the rior abdominal wall in more than half a million consecutive live births. Am. J. Hum. Genet. 33:470–478

    PubMed  CAS  Google Scholar 

  5. Barone CM, Marion R. Shanske A, Argamaso RV, Shprintzen RJ (1993) Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3. Am. J. Med. Genet. 45:745–750

    Article  PubMed  CAS  Google Scholar 

  6. Beckmann H. Rehder H, Rauskolb R (1984): Prune belly sequence associated with trisomy 13. Letter to the editor. Am. J. Med. Genet. 19:603–604

    Article  PubMed  CAS  Google Scholar 

  7. Bernstein J, Churg J ( Hrsg. ) (1992): Urinary Tract Pathology. Raven Press—New York

    Google Scholar 

  8. Blackburn MG, Belliveau RE (1971): Ellis-van Creveld syndrome: a report of previously underscribed anomalies in two siblings. Am. J. Dis. Child. 122:267–270

    PubMed  CAS  Google Scholar 

  9. Bodurtha J, Coutinho M, Benator R, et al. (1989): Femoral duplication: a case report. Am. J. Med. Genet. 33:165–169

    Article  PubMed  CAS  Google Scholar 

  10. Campbell M. (1951): Clinical Pediatric Urology. W. B. Saunders Company, Philadelphia

    Google Scholar 

  11. Carey JC, Greenbaum B, Hall BD (1978): The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Birth Defects OAS XIV (6B):253–263

    Google Scholar 

  12. Chen CP, Liu FF, Jan SW, Wang KG, Lan CC (1997): First report of distal obstructive uropathy and prune belly syndrome in an infant with amniotic band syndrome. Am. J. Perinatol. 14:31–33

    Article  PubMed  Google Scholar 

  13. Cohen AR (1991): The mermaid malformation: cloacal exstrophy and occult spinal dysraphism. Neurosurgery 28:834–843

    Article  PubMed  CAS  Google Scholar 

  14. Cote G. B., Petmezaki S, Bastakis N (1979): A gene for hypospadias in a child with presumed tetrasomy 18p. Am. J. Med. Genet. 4:141–146

    Article  PubMed  CAS  Google Scholar 

  15. Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI (1997): Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am. J. Med. Genet. 68: 263–269

    Article  PubMed  CAS  Google Scholar 

  16. Djavan B, Litwiller SE, Michgrub S, Roehrborn CG (1995): Micinous adenocarcinoma in defunctionalized bladders. Urology 46:107–110

    Article  PubMed  CAS  Google Scholar 

  17. Dominguez R, Rott J, Castillo M, et al. (1993): Kaudal duplication syndrome. Am. J. Dis. Child. 147:1048–1052

    PubMed  CAS  Google Scholar 

  18. Escobar LF, Weaver DD, Bixler D, Hodes ME, Michell M (1987): Urorectal septum malformation sequence. Report of six cases and embryologic analysis. Am. J. De. Child. 141:1021–1024

    CAS  Google Scholar 

  19. EUROCAT—Working Group (1993): Eurocat Report 5 — Surveillance of Kongenital Anomalies 1980 –1990. Institute of Hygiene and Epidemiology, Brussels

    Google Scholar 

  20. Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann HG, Utermann G, Moebius FF (1998) Characterization and localization of a candidate gene for the Smith-Lemli-Opitz syndrome. Med. Genet. 10:115

    Google Scholar 

  21. Fontaine E, Salomon L, Gagnadoux MF, Niaudet P, Broyer M, Beurton D (1997): Long-term results of renal translantation in children with the prune belly syndrome. J. Urol. 158:892–894

    Article  PubMed  CAS  Google Scholar 

  22. Fryburg JS, Lin KY, Golden WL (1996). Chromosome 22qll.2 deletion in a boy with Opitz (G/BBB) syndrome. Am. J. Med. Genet. 62:274–275

    Article  PubMed  CAS  Google Scholar 

  23. Frydman M, Magenis RE, Mohandas TK, Kaback MM (1983): Chromosome abnormalities in infants with prune belly anomaly: Association with trisomy 18. Am. J. Med. Genet. 15:145–148

    Article  PubMed  CAS  Google Scholar 

  24. Frydman M, Greiber C, Cohen HA (1985): Uncomplicated familial hypospadias: evidence for autosomal recessive inheritance. Am. J. Med. Genet. 21:51–55

    Article  PubMed  CAS  Google Scholar 

  25. Frydman M, Cohen HA, Ashkenazi A, Varsano J (1993): Familial segregation of cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction: a new syndrome ? Am. J. Med. Genet. 45:717–720

    Article  PubMed  CAS  Google Scholar 

  26. Fryns JP, Vandenberghe K, Van den Berghe H (1991): Prune-belly anomaly and large interstitial deletion of the long arm of chromosome 6. Ann. Genet. 34:127 only

    Google Scholar 

  27. Fryns JP, Vandenberghe K, Deschrijver D (1997): Early urethral obstruction sequence and unbalanced translocation with terminal 10p duplication/1p deficiency. Genet. Couns. 8:349–350

    CAS  Google Scholar 

  28. Genest DR, Driscoll SG, Bieber FR (1991): Complexities of limb anomalies: The lower extremity in the »prune belly« phenotype. Teratology 44: 365–371

    Article  PubMed  CAS  Google Scholar 

  29. Glaser LH, Rossiter Lewis AP (1961): A case of familial incidence of extopia vesicae. Brit. Med. J. 263:1333 only

    Google Scholar 

  30. Guillen DR, Lowichik A, Schneider NR, Cohen DS, Garcia S, Zinn AR (1997): Prune belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST. Am. J. Med. Gent. 70:32–36

    Article  CAS  Google Scholar 

  31. Guvenc M, Guvenc H, Aygun AD, Yalcin O, Baydinc YC, Soylu F (1995): Prune belly syndome associated with omphalocele in a female newborn. J. Pediatr. Surg. 30: 896–897

    Article  PubMed  CAS  Google Scholar 

  32. Hendren WH (1992): Cloacal malformations: experience with 105 cases. J. Pediatr. Surg. 27:890–897

    Article  PubMed  CAS  Google Scholar 

  33. Hurwitz RS, Manzoni GAM, Ransley PG, Stephens FD (1987): Cloacal exstrophy: a report of 34 cases. J. Urol. 138:1060–1064

    PubMed  CAS  Google Scholar 

  34. Ives EJ (1974): The abdominal muscle deficiency triad syndrome—Experience with ten cases. BDOAS X /4:127–135

    Google Scholar 

  35. Kutzner DK, Wilson WG, Hogge WA (1988): OEIS complex (cloacal exstrophy): prenatal diagnosis in the second trimester. Prenat. Diagn. 8:247–254

    Article  PubMed  CAS  Google Scholar 

  36. Liang X, Ioffe OB, Sun CCJ (1998): Cloacal dysgenesis sequence: Observations in four patients including three fetuses of second trimester gestation. Develop. Pathol. 1:281–288

    Article  CAS  Google Scholar 

  37. Lizcano-Gil LA, Garcia-Cruz D, Sanchez-Corona J (1995): Omphalocele—exstrophy — imperforate anus—spina bifida (OEIS) complex in a male prenatally exposed to diazepam (letter). Arch. Med. Res. 26:95–96

    PubMed  CAS  Google Scholar 

  38. Lowry RB, Kliman MR (1976): Hypospadias in successive generations—possible dominant gene inheritance. Clin. Genet. 9:285–288

    Article  PubMed  CAS  Google Scholar 

  39. Martinez-Frias ML, Cucalon F, Urioste M (1992): New case of limb body-wall complex associated with sirenomelia sequence. Am. J. Med. Genet. 44:583–585

    Article  PubMed  CAS  Google Scholar 

  40. 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

    Article  PubMed  CAS  Google Scholar 

  41. Mollica F, Mazzone D, Cimino G, Opitz JM (1995): Severe case of Al Awadi/Raas-Rotschild syndrome or new possibly autosomal recessive facio-skeleto-genital syndrome. Am. J. Med. Genet. 56:168–172

    Article  PubMed  CAS  Google Scholar 

  42. Moore KL, Persaud TVN (Hrsg.) (1996): Embryologie. Schattauer—Stuttgart, New York

    Google Scholar 

  43. Moretti G, Mazzaglia E, D »Anieri A, Merlino V, Magaudda L, Mondello MR, Santoro G, Vaccaro M, Albanese A (1995): Epidermolysis bullosa junctionalis associated with urinary bladder exstrophy and concomitant malformations; a case report. Pedoatr. Dermatol. 12: 239 – 241

    Article  CAS  Google Scholar 

  44. Neidich JA, Whitacker LA, Zackai EH (1988): Frontonasal malformation: two new syndromes ? Am. J. Med. Genet. Suppl. 4:202–203

    Google Scholar 

  45. Opitz JM (1985): The developmental field concept. Am. J. Med. Genet. 21:1–11

    Article  PubMed  CAS  Google Scholar 

  46. Opitz JM (1987): G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or«Opitz. Frias« or«Opitz-G« syndrome) — perspective in 1987 and bibliography. Am. J. Med. Genet. 28:275–285

    Article  PubMed  CAS  Google Scholar 

  47. Opitz JM, Penchaszadeh VB, Holt MC, Spano LM, Smith VL (1994): Smith-Lemli-Opitz (RHS) syndrome bibliography: 1964–1993. Am. J. Med. Genet. 50:339–343

    Article  PubMed  CAS  Google Scholar 

  48. Page LA (1979): Inheritance of uncomplicated hypospadias. Pediatrics 63:788–790

    PubMed  CAS  Google Scholar 

  49. Pagon RA, Smith DW, Shepard TH (1979): Urethral obstruction malformation complex: a cause of abdominal deficiency and the »prune belly«. J. Pediat. 94:900–906

    Article  PubMed  CAS  Google Scholar 

  50. Parra RO, Cummings JM, Palmer DC (1991): Testicular seminoma in a long term survivor of the prune belly syndrome Eur. J. Urol. 19:79–80

    CAS  Google Scholar 

  51. Patten BM, Barry A (1952): The genesis of exstrophy of the bladder and epispadias. Am. J. Anat. 90:35–43

    Article  PubMed  CAS  Google Scholar 

  52. Pauli RM (1994): Lower mesodermal defects: a common cause of fetal and early neonatal death. Am. J. Med. Genet. 50:154–157

    Article  PubMed  CAS  Google Scholar 

  53. Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RCM, Opitz JM, Muenki M, Ropers HH, Ballabio A (1997): Opitz G/BBB syndrome, a defect of midline development, ist due to mutations in a new RING finger gene on XP22. Nature Genet. 17:285–291

    Article  PubMed  CAS  Google Scholar 

  54. Ramirez-Figueroa JL, Perez-Fernandez LF, Lopez-Corella E, Cuevas-Schacht FJ, Smith-Sousa A (1993) Prune belly syndrome associated with cystic adenomatoid malformation of the lung and pulmonary sequestration. Bol. Med. Hasp. Infant Mex. 50:336–340

    CAS  Google Scholar 

  55. Ramos FJ, McDonald-McGinn DM, Emanuel BS, Zackai EH (1992): Tricho-rhino-phalangeal syndrome type II (Langer Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion. Am. J. Med. Genet. 44:790–794

    Article  PubMed  CAS  Google Scholar 

  56. Rehder H (1981): Pathology of trisomy 21 - with particular reference to persistent common atrioventricular canal of the heart. In: GR Burgio, M. Fraccaro, L. Tiepolo, U. Wolf (Hrsg.) Trisomy 21, S. 57–73. An International Symposium. Springer Verlag - Berlin, Heidelberg, New York

    Google Scholar 

  57. Rehder H (1985): Ätiologie und Pathogenese von Fehlbildungen. In: H. H. Wolff, W. Schmeller (Hrsg.) Fehlbildungen, Nävi, Melanome, S. 3–15, Springer Verlag - Berlin, Heidelberg, New York, Tokyo

    Google Scholar 

  58. Rehder H, Rauskolb R (1992): Entwicklung fetaler Organe. Spezielle Diagnostik und Therapie. In: W. Künzel und K.-H. Wulf (Hrsg.) Klinik der Frauenheilkunde und Geburtshilfe, Bd. 4, S. 361–396, Urban & Schwarzenberg - München, Wien, Baltimore

    Google Scholar 

  59. Robin NH, Newidich JA, Bason LD, Whitacker LA, McDonald-McGinn D, Hunter J, Snyder HM III, Zackai EH (1996): Frontonasal malformation and cloacal exstrophy: a previously unreported association. Am. J. Med. Genet. 61:75–78

    Article  PubMed  CAS  Google Scholar 

  60. Robin NH, Opitz JM, Muenke M (1996): Opitz G/BBB syndrome: clinical comparison of families linked to XP22 and 22q, and a review of the literature. Am. J. Med. Genet. 62:305–317

    Article  PubMed  CAS  Google Scholar 

  61. Robinow M, Johnson GF, Broock GJ (1982): Syndactyly type V. Am. J. Med. Genet. 11:475–482

    Article  PubMed  CAS  Google Scholar 

  62. Robinson HB, Tross JK (1984): Agenesis of the cloacal membrane. A probable teratogenic anomaly. Perspect. Pediatr. Pathol. 1: 79–96

    Google Scholar 

  63. Schmittenbecher PP, Endres W (1990): Alpha 1-antitrypsin deficiency and prune belly syndrome-first report of coincidence. Klin. Wochenschr. 68:346 only

    Article  PubMed  CAS  Google Scholar 

  64. Schwiese K, Ngo E, Louwen F, Hülskamp G, Rehder H (1998): Severe manifestation of the Johanson-Blizzard syndrome. Med. Genet. 10:120 only

    Google Scholar 

  65. Smith NM, Chambers HM, Furness ME, Haan EA (1992): The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs. J. Med. Genet. 29:730–732

    Article  PubMed  CAS  Google Scholar 

  66. Stoll C, Alembik Y, Roth MP, Dott B (1990): Genetic and environmental factors in hypospadias. J. Med. Genet. 27:559–563

    Article  PubMed  CAS  Google Scholar 

  67. Sutherland RW, Wiener JS, Hicks JP, Marcelli M, Gonzales ET, Toth DR, Lamb DJ (1996) Androgen receptor gene mutations are rarely associated with isolated penile hypospadias. J. Urol. 156:828–831

    Article  PubMed  CAS  Google Scholar 

  68. Tang TT, Oechler HW, Hinke DH, Segura AD, Franciosi RA (1991): Limb body wall complex in association with sirenomelia sequence. Am. J. Med. Genet. 41:21–25

    Article  PubMed  CAS  Google Scholar 

  69. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chrn TS, Salen G (1994): Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. New Eng. J. Med. 330:107–113

    Article  PubMed  CAS  Google Scholar 

  70. Tsur M, Linder N, Cappis S (1987): Hypospadias in a consanguineous family. (Letter) Am. J. Med. Genet. 27:487–489

    Article  PubMed  CAS  Google Scholar 

  71. Uson AC, Lattimer JK, Melicow MM (1959) Types of exstrophy of urinary bladder and concomitant malformations. A report based on 82 cases. Pediatrics 23:927–933

    PubMed  CAS  Google Scholar 

  72. Van Buggenhout G, Cooreman G, Thienpont L, Fryns JP (1995): Early urethral obstruction sequence and trisomy of the long arm of chromosome 1. Ann. Genet. 38:106–107

    PubMed  Google Scholar 

  73. Warkany J (Hrsg.) (1971): Kongenital Malformations. Year Book Medical Publishers —Chicago

    Google Scholar 

  74. Watanabe H, Yamanaka T (1990): A possible relationship between Beckwith-Wiedemann syndrome, urinary tract anomaly and prune belly syndrome. Clin. Genet. 38:410–414

    Article  PubMed  CAS  Google Scholar 

  75. Wehrung DA, Hay S (1970): Kongenital malformations in twins. Am. J. Hum. Genet. 22:662–678

    PubMed  Google Scholar 

  76. Williams DI, Burkholder GV (1967): The prune belly syndrome. J. Urol. 98:244–251

    PubMed  CAS  Google Scholar 

  77. Woodhouse CRJ, Ransley PG, Innes-Williams D (1982): Prune belly syndrome — report of 47 cases. Arch. Dis. Child. 57:856–859

    Article  PubMed  CAS  Google Scholar 

  78. Yoshida M, Matsumura M, Shintaku Y, Yura Y, Kanamori T, Matsushita K, Nonogaki T, Hayashi M, Tauchi K (1995): Prenatally diagnosed female prune belly syndrome associated with tetralogy of Fallot. Gynecol. Obstet. Invest. 39:141–144

    Article  PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2000 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Rehder, H. (2000). Fehlentwicklung des ableitenden Harnwegssystems im Fetus. 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_3

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-59589-9_3

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-64039-1

  • Online ISBN: 978-3-642-59589-9

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics