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Fehlentwicklung des ableitenden Harnwegssystems im Fetus

  • H. Rehder

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).

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Literatur

  1. 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. 16:81–86PubMedCrossRefGoogle Scholar
  2. 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. 80:2697–2699PubMedCrossRefGoogle Scholar
  3. 3.
    Aterman K, Abaci F (1967) Heterotopic gastric and esophageal tissue in the colon. Am. J. Dis. Child. 113:552–559PubMedGoogle Scholar
  4. 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. 33:470–478PubMedGoogle Scholar
  5. 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. 45:745–750PubMedCrossRefGoogle Scholar
  6. 6.
    Beckmann H. Rehder H, Rauskolb R (1984): Prune belly sequence associated with trisomy 13. Letter to the editor. Am. J. Med. Genet. 19:603–604PubMedCrossRefGoogle Scholar
  7. 7.
    Bernstein J, Churg J ( Hrsg. ) (1992): Urinary Tract Pathology. Raven Press—New YorkGoogle Scholar
  8. 8.
    Blackburn MG, Belliveau RE (1971): Ellis-van Creveld syndrome: a report of previously underscribed anomalies in two siblings. Am. J. Dis. Child. 122:267–270PubMedGoogle Scholar
  9. 9.
    Bodurtha J, Coutinho M, Benator R, et al. (1989): Femoral duplication: a case report. Am. J. Med. Genet. 33:165–169PubMedCrossRefGoogle Scholar
  10. 10.
    Campbell M. (1951): Clinical Pediatric Urology. W. B. Saunders Company, PhiladelphiaGoogle Scholar
  11. 11.
    Carey JC, Greenbaum B, Hall BD (1978): The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Birth Defects OAS XIV (6B):253–263Google Scholar
  12. 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. 14:31–33PubMedCrossRefGoogle Scholar
  13. 13.
    Cohen AR (1991): The mermaid malformation: cloacal exstrophy and occult spinal dysraphism. Neurosurgery 28:834–843PubMedCrossRefGoogle Scholar
  14. 14.
    Cote G. B., Petmezaki S, Bastakis N (1979): A gene for hypospadias in a child with presumed tetrasomy 18p. Am. J. Med. Genet. 4:141–146PubMedCrossRefGoogle Scholar
  15. 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: 263–269PubMedCrossRefGoogle Scholar
  16. 16.
    Djavan B, Litwiller SE, Michgrub S, Roehrborn CG (1995): Micinous adenocarcinoma in defunctionalized bladders. Urology 46:107–110PubMedCrossRefGoogle Scholar
  17. 17.
    Dominguez R, Rott J, Castillo M, et al. (1993): Kaudal duplication syndrome. Am. J. Dis. Child. 147:1048–1052PubMedGoogle Scholar
  18. 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. 141:1021–1024Google Scholar
  19. 19.
    EUROCAT—Working Group (1993): Eurocat Report 5 — Surveillance of Kongenital Anomalies 1980 –1990. Institute of Hygiene and Epidemiology, BrusselsGoogle Scholar
  20. 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. 10:115Google Scholar
  21. 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. 158:892–894PubMedCrossRefGoogle Scholar
  22. 22.
    Fryburg JS, Lin KY, Golden WL (1996). Chromosome 22qll.2 deletion in a boy with Opitz (G/BBB) syndrome. Am. J. Med. Genet. 62:274–275PubMedCrossRefGoogle Scholar
  23. 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. 15:145–148PubMedCrossRefGoogle Scholar
  24. 24.
    Frydman M, Greiber C, Cohen HA (1985): Uncomplicated familial hypospadias: evidence for autosomal recessive inheritance. Am. J. Med. Genet. 21:51–55PubMedCrossRefGoogle Scholar
  25. 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. 45:717–720PubMedCrossRefGoogle Scholar
  26. 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 onlyGoogle Scholar
  27. 27.
    Fryns JP, Vandenberghe K, Deschrijver D (1997): Early urethral obstruction sequence and unbalanced translocation with terminal 10p duplication/1p deficiency. Genet. Couns. 8:349–350Google Scholar
  28. 28.
    Genest DR, Driscoll SG, Bieber FR (1991): Complexities of limb anomalies: The lower extremity in the »prune belly« phenotype. Teratology 44: 365–371PubMedCrossRefGoogle Scholar
  29. 29.
    Glaser LH, Rossiter Lewis AP (1961): A case of familial incidence of extopia vesicae. Brit. Med. J. 263:1333 onlyGoogle Scholar
  30. 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. 70:32–36CrossRefGoogle Scholar
  31. 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: 896–897PubMedCrossRefGoogle Scholar
  32. 32.
    Hendren WH (1992): Cloacal malformations: experience with 105 cases. J. Pediatr. Surg. 27:890–897PubMedCrossRefGoogle Scholar
  33. 33.
    Hurwitz RS, Manzoni GAM, Ransley PG, Stephens FD (1987): Cloacal exstrophy: a report of 34 cases. J. Urol. 138:1060–1064PubMedGoogle Scholar
  34. 34.
    Ives EJ (1974): The abdominal muscle deficiency triad syndrome—Experience with ten cases. BDOAS X /4:127–135Google Scholar
  35. 35.
    Kutzner DK, Wilson WG, Hogge WA (1988): OEIS complex (cloacal exstrophy): prenatal diagnosis in the second trimester. Prenat. Diagn. 8:247–254PubMedCrossRefGoogle Scholar
  36. 36.
    Liang X, Ioffe OB, Sun CCJ (1998): Cloacal dysgenesis sequence: Observations in four patients including three fetuses of second trimester gestation. Develop. Pathol. 1:281–288CrossRefGoogle Scholar
  37. 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. 26:95–96PubMedGoogle Scholar
  38. 38.
    Lowry RB, Kliman MR (1976): Hypospadias in successive generations—possible dominant gene inheritance. Clin. Genet. 9:285–288PubMedCrossRefGoogle Scholar
  39. 39.
    Martinez-Frias ML, Cucalon F, Urioste M (1992): New case of limb body-wall complex associated with sirenomelia sequence. Am. J. Med. Genet. 44:583–585PubMedCrossRefGoogle Scholar
  40. 40.
    Messelink EJ, Aronson DC, Knuist M, Heij HA, Vos A(1994): Four cases of bladder exstrophy in two families. J. Med. Genet. 31: 490–492PubMedCrossRefGoogle Scholar
  41. 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. 56:168–172PubMedCrossRefGoogle Scholar
  42. 42.
    Moore KL, Persaud TVN (Hrsg.) (1996): Embryologie. Schattauer—Stuttgart, New YorkGoogle Scholar
  43. 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 – 241CrossRefGoogle Scholar
  44. 44.
    Neidich JA, Whitacker LA, Zackai EH (1988): Frontonasal malformation: two new syndromes ? Am. J. Med. Genet. Suppl. 4:202–203Google Scholar
  45. 45.
    Opitz JM (1985): The developmental field concept. Am. J. Med. Genet. 21:1–11PubMedCrossRefGoogle Scholar
  46. 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. 28:275–285PubMedCrossRefGoogle Scholar
  47. 47.
    Opitz JM, Penchaszadeh VB, Holt MC, Spano LM, Smith VL (1994): Smith-Lemli-Opitz (RHS) syndrome bibliography: 1964–1993. Am. J. Med. Genet. 50:339–343PubMedCrossRefGoogle Scholar
  48. 48.
    Page LA (1979): Inheritance of uncomplicated hypospadias. Pediatrics 63:788–790PubMedGoogle Scholar
  49. 49.
    Pagon RA, Smith DW, Shepard TH (1979): Urethral obstruction malformation complex: a cause of abdominal deficiency and the »prune belly«. J. Pediat. 94:900–906PubMedCrossRefGoogle Scholar
  50. 50.
    Parra RO, Cummings JM, Palmer DC (1991): Testicular seminoma in a long term survivor of the prune belly syndrome Eur. J. Urol. 19:79–80Google Scholar
  51. 51.
    Patten BM, Barry A (1952): The genesis of exstrophy of the bladder and epispadias. Am. J. Anat. 90:35–43PubMedCrossRefGoogle Scholar
  52. 52.
    Pauli RM (1994): Lower mesodermal defects: a common cause of fetal and early neonatal death. Am. J. Med. Genet. 50:154–157PubMedCrossRefGoogle Scholar
  53. 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. 17:285–291PubMedCrossRefGoogle Scholar
  54. 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. 50:336–340Google Scholar
  55. 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. 44:790–794PubMedCrossRefGoogle Scholar
  56. 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 YorkGoogle Scholar
  57. 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, TokyoGoogle Scholar
  58. 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, BaltimoreGoogle Scholar
  59. 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. 61:75–78PubMedCrossRefGoogle Scholar
  60. 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. 62:305–317PubMedCrossRefGoogle Scholar
  61. 61.
    Robinow M, Johnson GF, Broock GJ (1982): Syndactyly type V. Am. J. Med. Genet. 11:475–482PubMedCrossRefGoogle Scholar
  62. 62.
    Robinson HB, Tross JK (1984): Agenesis of the cloacal membrane. A probable teratogenic anomaly. Perspect. Pediatr. Pathol. 1: 79–96Google Scholar
  63. 63.
    Schmittenbecher PP, Endres W (1990): Alpha 1-antitrypsin deficiency and prune belly syndrome-first report of coincidence. Klin. Wochenschr. 68:346 onlyPubMedCrossRefGoogle Scholar
  64. 64.
    Schwiese K, Ngo E, Louwen F, Hülskamp G, Rehder H (1998): Severe manifestation of the Johanson-Blizzard syndrome. Med. Genet. 10:120 onlyGoogle Scholar
  65. 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. 29:730–732PubMedCrossRefGoogle Scholar
  66. 66.
    Stoll C, Alembik Y, Roth MP, Dott B (1990): Genetic and environmental factors in hypospadias. J. Med. Genet. 27:559–563PubMedCrossRefGoogle Scholar
  67. 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. 156:828–831PubMedCrossRefGoogle Scholar
  68. 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. 41:21–25PubMedCrossRefGoogle Scholar
  69. 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. 330:107–113PubMedCrossRefGoogle Scholar
  70. 70.
    Tsur M, Linder N, Cappis S (1987): Hypospadias in a consanguineous family. (Letter) Am. J. Med. Genet. 27:487–489PubMedCrossRefGoogle Scholar
  71. 71.
    Uson AC, Lattimer JK, Melicow MM (1959) Types of exstrophy of urinary bladder and concomitant malformations. A report based on 82 cases. Pediatrics 23:927–933PubMedGoogle Scholar
  72. 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. 38:106–107PubMedGoogle Scholar
  73. 73.
    Warkany J (Hrsg.) (1971): Kongenital Malformations. Year Book Medical Publishers —ChicagoGoogle Scholar
  74. 74.
    Watanabe H, Yamanaka T (1990): A possible relationship between Beckwith-Wiedemann syndrome, urinary tract anomaly and prune belly syndrome. Clin. Genet. 38:410–414PubMedCrossRefGoogle Scholar
  75. 75.
    Wehrung DA, Hay S (1970): Kongenital malformations in twins. Am. J. Hum. Genet. 22:662–678PubMedGoogle Scholar
  76. 76.
    Williams DI, Burkholder GV (1967): The prune belly syndrome. J. Urol. 98:244–251PubMedGoogle Scholar
  77. 77.
    Woodhouse CRJ, Ransley PG, Innes-Williams D (1982): Prune belly syndrome — report of 47 cases. Arch. Dis. Child. 57:856–859PubMedCrossRefGoogle Scholar
  78. 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. 39:141–144PubMedCrossRefGoogle Scholar

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  • H. Rehder

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