RESUMEN
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.
Asunto(s)
Cromosomas Humanos Par 6 , Variación Genética , Hidronefrosis/genética , Pelvis Renal/anomalías , Obstrucción Ureteral/genética , Femenino , Expresión Génica , Genes Dominantes , Ligamiento Genético , Genotipo , Haplotipos , Humanos , Escala de Lod , Complejo Mayor de Histocompatibilidad/genética , Masculino , LinajeRESUMEN
The clinical features and management of genuine hereditary hydronephrosis (GHH) in 4 members of the same family are presented. Genealogical studies provide evidence of a dominant autosomal inheritance with complete penetrance. All affected members of the family had inherited the same HLA haplotype through the male line. This finding, added to those from previous association studies with histocompatibility typing (in 3 families), lends support to the localization of the GHH gene/s in the 6p human chromosome. Based on our findings from the present familial study and on a review of the literature, we suggest that all first-degree relatives of children or adults with genuine hydronephrosis should be screened by ultrasound. Such a prospective screening, including fetal echography, will lead to earlier diagnosis and treatment of asymptomatic cases and, moreover, will identify GHH cases for possible genetic counseling with regard to the empiric recurrence risk.
Asunto(s)
Genes Dominantes , Antígenos HLA/genética , Hidronefrosis/genética , Adulto , Niño , Haplotipos/genética , Humanos , Hidronefrosis/diagnóstico por imagen , Riñón/diagnóstico por imagen , Escala de Lod , Masculino , Persona de Mediana Edad , Linaje , UltrasonografíaAsunto(s)
Trastornos del Desarrollo Sexual , Antígeno H-Y/fisiología , Diferenciación Sexual , Animales , Trastornos del Desarrollo Sexual/embriología , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/inmunología , Perros , Femenino , Gónadas/embriología , Humanos , Masculino , Medicina en las Artes , Ratones , Ratas , Aberraciones Cromosómicas SexualesAsunto(s)
Testículo/ultraestructura , Varicocele/patología , Adolescente , Adulto , Niño , Humanos , Masculino , Músculo Liso/patología , Testículo/patologíaRESUMEN
This report is the second case in Western medical literature of retained ejaculation and subsequent sterility due to posterior urethral valves. A survey of this anomaly in adults is presented together with its andrological implications.
Asunto(s)
Eyaculación , Uretra/anomalías , Obstrucción Uretral/congénito , Adulto , Dilatación Patológica , Femenino , Humanos , Infertilidad Masculina/etiología , Masculino , Disfunciones Sexuales Fisiológicas/etiología , Uretra/cirugía , Obstrucción Uretral/fisiopatología , Obstrucción Uretral/cirugíaAsunto(s)
Ultrasonografía , Varicocele/diagnóstico , Adolescente , Adulto , Humanos , Masculino , Flebografía , Escroto/irrigación sanguínea , Termografía , Varicocele/cirugíaAsunto(s)
Escroto , Termografía , Varicocele/diagnóstico , Humanos , Masculino , Radiografía , Escroto/fisiología , Varicocele/diagnóstico por imagenAsunto(s)
Escroto/anomalías , Adulto , Niño , Genitales Masculinos/anomalías , Genitales Masculinos/cirugía , Humanos , Masculino , Métodos , Pene/cirugía , Escroto/cirugíaRESUMEN
An experimental study with synadelpho-ureterostomy (transuretero-ureterostomy) was performed in 25 dogs. The conclusions reached are: (1) side-to-side anastomosis is to be preferred to end-to-side suture; (2) risk of disruption is very slight even where an unexpected obstruction is encountered (test with induced cellophanic periureteritis), and (3) segmental replacement of the lumbo-iliac ureter may apparently be achieved by means of inverted synadelpho-ureterostomy (the damaged ureter is the recipient ureter). This replacement requires a double synadelphostomy, but in our study the normal transposed ureter suffered no harm despite the presence of previous infection and ureteral dilatation.
Asunto(s)
Uréter/cirugía , Derivación Urinaria/métodos , Animales , Perros , Hidronefrosis/etiología , Peritonitis/etiología , Complicaciones Posoperatorias/etiología , Pielonefritis/etiología , Trasplante Autólogo , Uréter/lesiones , Uréter/trasplante , Infecciones Urinarias/etiologíaRESUMEN
An extraordinary case is reported of "uretero-synadelphia" (a single Y-type ureteric tract for both kidneys) with ectopic opening into the bladder vertex. This case also showed an associated agenesis of the extrahepatic biliary ducts. The possible factors in the development of this anomaly are discussed. The term "synadelpho-ureterostomy" is proposed to describe the surgical techniques used to mimic these anomalies, in place of the more commonly accepted "trans-uretero-ureterostomy".