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aniridia/proteinuria
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5 resultater
Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 17-1985. A 13-year-old boy with aniridia and proteinuria 11 years after nephrectomy for a Wilms' tumor.
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Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family.
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The combined use of qualitative and quantitative analysis of 11p13 polymorphic markers together with chromosomal in situ suppression hybridization (CISS) with biotin labeled probes mapping to 11p allowed us to characterize a complex rearrangement segregating in a family. We detected a pericentric
Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome).
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The clinicopathologic and radiologic features of 12 children with complete and incomplete forms of Drash syndrome are reported. Their common denominator was a nephropathy. Four had the full triad, consisting of nephropathy, Wilms tumor, and genital abnormalities; five had nephropathy and genital
Focal segmental glomerulosclerosis in patients with complete deletion of one WT1 allele.
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The renal prognosis of patients with Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation syndrome (WAGR) is poor. However, the renal histology and its mechanisms are not well understood. We performed renal biopsies in 3 patients with WAGR syndrome who had heavy proteinuria. The
Focal segmental glomerulosclerosis in solitary kidney in WAGR syndrome.
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WAGR syndrome consists of Wilms' tumour, aniridia, genitourinary malformations and mental retardation, and is associated with chromosomal microdeletion of 11p13. We report a case of young male, exhibiting several typical features of WAGR syndrome (e.g. WT, aniridia and genitourinary abnormalities),
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