Search results for "Renal dysplasia"

showing 3 items of 3 documents

Reflux nephropathy: a clinico-pathological study of 16 cases.

1991

The pathologic features of 16 nephrectomy specimens obtained from patients with a radiological diagnosis of reflux nephropathy were analyzed. Chronic pyelonephritis was diagnosed in 7 cases, renal dysplasia in 5 and segmental atrophy in 4. Clear correlations between pathologic pictures and pathogenic mechanisms involved in the development of renal lesions in kidneys with reflux are difficult to establish. These results show, however, that 'reflux nephropathy' is a broad term, which encompasses both congenital and acquired renal lesions.

AdultMalemedicine.medical_specialtyPathologyAdolescentUrologymedicine.medical_treatmentKidneyVesicoureteral refluxGastroenterologyNephropathyInternal medicinemedicineHumansChronic pyelonephritisChildReflux nephropathyVesico-Ureteral RefluxPyelonephritisbusiness.industryMiddle Agedmedicine.diseaseRenal dysplasiaNephrectomyChild PreschoolChronic DiseaseEtiologyClinico pathologicalFemaleKidney DiseasesAtrophybusinessUrologia internationalis
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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

1998

The LIM-homeodomain protein Lmxlb plays a central role in dorso-ventral patterning of the vertebrate limb1. Targeted disruption of Lmxlb results in skeletal defects including hypoplas-tic nails, absent patellae and a unique form of renal dysplasia (see accompanying manuscript by H. Chen et al.; ref. 2). These features are reminiscent of the dominantly inherited skeletal malformation nail patella syndrome (NFS). We show that LMX1B maps to the NFS locus and that three independent NFS patients carry de novo heterozygous mutations in this gene. Functional studies show that one of these mutations disrupts sequence-specific DNA binding, while the other two mutations result in premature terminatio…

HeterozygotePathologymedicine.medical_specialtyLIM-Homeodomain ProteinsMolecular Sequence DataLocus (genetics)BiologyKidneyBone and BonesMiceGene mappingNail-Patella SyndromeGeneticsmedicineAnimalsHumansAmino Acid SequenceGeneBody PatterningNail patella syndromeHomeodomain ProteinsGeneticsBase SequenceDysostosismedicine.diseasePhenotypeRenal dysplasiaMutationHomeotic geneTranscription FactorsNature Genetics
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Imaging in Prune Belly Syndrome and Other Syndromes Affecting the Urogenital Tract

2018

The absence of the abdominal musculature, urinary tract dilatation, and bilateral undescended testis is known as prune belly syndrome (PBS) (Eagle and Barrett 1950; Greskovich and Nyberg 1988; Williams 1982). The classical syndrome is also known as triad syndrome, Eagle-Barrett syndrome, or abdominal muscular deficiency syndrome. There is a broad spectrum of malformations with severe dilatation of the urinary tract as a consequence of aplasia of the musculature. The pathogenetic mechanism is different from that of dilatation as a consequence of supra- or infravesical obstruction. Some patients with prune belly syndrome have a real obstruction, such as urethral aplasia with oligohydramnios s…

PathogenesisGenitourinary systembusiness.industryPrune belly syndromeUrinary systemmedicineOligohydramniosAnatomyAplasiaAbnormalitymedicine.diseasebusinessRenal dysplasia
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