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  • Electronic Resource  (2)
  • 2000-2004  (2)
  • Proteinuria  (1)
  • Subcortical laminar heterotopia  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 14 (2000), S. 59-61 
    ISSN: 1432-198X
    Keywords: Key words Wilms tumor ; Proteinuria ; Hematuria ; Hydronephrosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  A rare case of botryoid Wilms tumor is presented. The main clinical manifestations were persistent low-grade fever, malaise, and proteinuria associated with microhematuria. Ultrasonography revealed an echogenic mass in the right kidney, and a contrast-enhanced mass was found in the dilated collecting system by contrast-enhanced computed tomography. The surgically resected tumor was a polypoid, light-yellow, glistening mass that occupied a large part of the renal pelvis and originated from the pelvicaliceal wall. Part of the tumor extended to the proximal ureter, resulting in hydronephrosis in the involved kidney. No parenchymal lesion was observed. Microscopic examination revealed epithelial, stromal, and blastemal components, which indicated Wilms tumor. Infection had occurred in the hydronephrotic kidney, which presumably had caused the major presenting symptoms. The prognosis of our patient and previously reported cases of botryoid Wilms tumor was good compared with that of typical Wilms tumor, since the botryoid type can be detected at an early stage.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1435-232X
    Keywords: Key wordsDCX gene ; Subcortical laminar heterotopia ; Isolated lissencephaly sequence
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We examined mutations of the doublecortin (DCX) gene, which is responsible for X-linked subcortical laminar heterotopia (SCLH) and lissencephaly, in eight unrelated Japanese patients, four with SCLH and four with isolated lissencephaly sequence (ILS). Polymerase chain reaction (PCR) disclosed a deletion of part of the DCX gene in one male ILS patient. Single-strand conformational polymorphism analysis and subsequent sequence analysis were carried out in the remaining seven patients. One male ILS patient had a nonsense mutation in exon V, which would result in premature termination of the gene product. One female SCLH patient had a missense mutation in exon IV. Our results indicate that in the Japanese, as has been seen elsewhere, abnormality of the DCX gene is the common cause of SCLH and ILS.
    Type of Medium: Electronic Resource
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