Abstract
Seven publications on familial hydronephrosis apparently due to uretero-pelvic junction stricture have been collected from the literature. an eighth family with this defect is reported in this paper; it involves a mother and at least two of her sons. The following conclusions can be drawn from these cases: The defect is most probably due to a mutant dominant gene, bilateral or unilateral involvement representing variable expressivity of this gene. The uretero-pelvic junction stenosis in the familial cases is more probably due to an intrinsic defect at the junction than to an extrinsic defect such as fibrous bands or aberrant vessels.
Zusammenfassung
Sieben Publikationen über familiäre Hydronephrose infolge einer Ureterabgangsstenose wurden in der Weltliteratur gefunden. Über einen weiteren Fall — eine Mutter und zwei ihrer drei Söhne betreffend — wird hier berichtet. Es wird angenommen, daß die Stenose ihre Ursache in einer dominanten Genmutation hat. Ein-oder beidseitiges Betroffensein dürfte auf den Grad der Expressivität des Gens zurückzuführen sein. Es ist wahrscheinlicher, daß die Stenose durch eine intrinsischen Defekt als durch äußeren Druck von Bindegewebssträngen oder aberreirenden Gefäßen im Gebiet des Ureterabgangs verurscht wird.
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Contributed in part as Paper No. 1616 from the University of Wisconsin Genetics Laboratory
Supported by a Fellow-ship from the National Foundation-March of Dimes
Supported, in part, by NIH Grants GM 15422 and 5 KO4 HD 18982 (Career Development Award), and by a Grant from the National Foundation-March of Dimes
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Grosse, F.R., Kaveggia, L. & Opitz, J.M. Familial hydronephrosis. Z. Kinder-Heilk. 114, 313–321 (1973). https://doi.org/10.1007/BF00569924
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DOI: https://doi.org/10.1007/BF00569924