Summary
Hereditary hydronephrosis (MIM 143400) is an autosomal dominant trait that causes unilateral or bilateral pelvi-ureteric junction (PUJ) obstruction. Linkage analysis was undertaken in 5 families with hereditary PUJ obstruction using the major histocompatibility complex locus as a test marker. The data as a whole supported a hereditary hydronephrosis locus on 6p. Maximal lod scores were 3.090 at a recombination fraction of 0.1 with full penetrance, and 2.486 at a recombination fraction of 0.1 with a penetrance of 90%. However, analysis of two point lod scores using the HOMOG program revealed significant evidence for genetic heterogeneity with one locus on 6p in 4 of the families, and a different locus in one family. After exclusion of this unlinked family, two point analysis gave a maximal lod score of 3.9 at a recombination fraction of 0.05 with full penetrance, and 4.2 at a recombination fraction of 0.0 with 90% penetrance. These data support the assignment of one of the loci for hereditary hydronephrosis to chromosome 6p.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Arnold AJ, Rickwood AMK (1990) Natural history of pelviureteric obstruction detected by prenatal sonography. Br J Urol 65:91
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
Atwell JD, Allen NH (1980) The interrelationship between paraureteric diverticula, vesicoureteral reflux and duplication of the pelvicaliceal collecting system: a family study. Br J Urol 52:269–273
Buscemi M, Shanske A, Mallet E, Ozoktay S, Hanna MK (1985) Dominantly inherited ureteropelvic junction obstruction. Urology 26:568
Dwoskin JY (1979) Ureteropelvic junction obstruction and sibling uropathology. Urology 13:153
Lebowitz RL, Blickman JG (1983) The coexistence of ureteropelvic junction obstruction and reflux. Am J Roent 140:231–238
MacCormak M (1982) Prenatal detection of the autosomal dominant type of congenital hydronephrosis by ultrasonography. Prenat Diagn 2:157–161
Mackintosh M, Almarhoos G, Heath DA (1989) HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction. Tissue Antigens 34:185–189
MacKay M (1945) Congenital bilateral megaloureters with hydronephrosis. A remarkable family history. Proc R Soc Med 38:567–568
Maizels M, Smith CK, Firlit CF (1984) The management of children with vesico-ureteral reflux and ureteropelvic junction obstruction. J Urol 131:722–727
Paramo P, Izquierdo L, Paramo PS, LLorente L, Uson AC (1991) Hereditary hydronephrosis: a three generation family. Eur J Urol (in press)
Ransley PG, Dhillon HK, Godon I, Duffy PG, Dillon MJ, Barrat TM (1990) The postnatal management of hydronephrosis diagnosed by prenatal ultrasound. J Urol 144:584
Sengar DPS, Rashid A, Wolfish (1979) Familial urinary tract anomalies. J Urol 121:194
Thomas DFM (1990) Fetal uropathy. Br J Urol 66:225
Thomas DFM, Agarwal M, Laidin AZ, Eckstein HB (1982) Pelviureteric obstruction in infancy and childhood. A review of 117 patients. Br J Urol 54:204–208
Wladimiroff JW, Beemer FA, Scholtmeyer RJ, Stewart PA, Spritzer R, Wolf ED (1985) Failure to detect fetal obstructive uropathy by second trimester ultrasound. Prenat Diagn 5:41–46
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Izquierdo, L., Porteous, M., Paramo, P.G. et al. 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 (1992). https://doi.org/10.1007/BF00219184
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00219184