A six year old male baby presents to a hospital with recurrent gross hematuria for 2 years. There is no h/o burning mictuition or pyuria. Urine routine examination domonstrated no pus cells and urine culture was sterile. Serum c3 levels were normal. What is the most Probable diagnosis –
Correct Answer: Wilm's tumour
Description: Wilms' tumor, also known as nephroblastoma, is a cancer of the kidneys that typically occurs in children, rarely in adults.It is named after Max Wilms, the German surgeon (1867-1918) who first described it Wilms' tumor has many causes, which can broadly be categorized as syndromic and non-syndromic. Syndromic causes of Wilms' tumor occur as a result of alterations to genes such as the Wilms Tumor 1 (WT1) or Wilms Tumor 2 (WT2) genes, and the tumor presents with a group of other signs and symptoms. Non-syndromic Wilms' tumor is not associated with other symptoms or pathologies. Many, but not all, cases of Wilms' tumor develop from nephrogenic rests, which are fragments of tissue in or around the kidney that develop before bih and become cancerous after bih. In paicular, cases of bilateral Wilms' tumor, as well as cases of Wilms' tumor derived from ceain genetic syndromes such as Denys-Drash syndrome, are strongly associated with nephrogenic rests. Most nephroblastomas are on one side of the body only and are found on both sides in less than 5% of cases, although people with Denys-Drash syndrome mostly have bilateral or multiple tumors. They tend to be encapsulated and vascularized tumors that do not cross the midline of the abdomen. In cases of metastasis it is usually to the lung. A rupture of Wilms' tumor puts the patient at risk of bleeding and peritoneal dissemination of the tumor. In such cases, surgical intervention by a surgeon who is experienced in the removal of such a fragile tumor is imperative. Pathologically, a triphasic nephroblastoma comprises three elements: blastema mesenchyme (stroma) epithelium Wilms' tumor is a malignant tumor containing metanephric blastema, stromal and epithelial derivatives. Characteristic is the presence of aboive tubules and glomeruli surrounded by a spindled cell stroma. The stroma may include striated muscle, cailage, bone, fat tissue, and fibrous tissue. Dysfunction is caused when the tumor compresses the normal kidney parenchyma. The mesenchymal component may include cells showing rhabdomyoid differentiation or malignancy (rhabdomyosarcomatous Wilms). Wilms' tumors may be separated into 2 prognostic groups based on pathologic characteristics: Favorable - Contains well developed components mentioned above Anaplastic - Contains diffuse anaplasia (poorly developed cells) Mutations of the WT1 gene on chromosome 11p13 are observed in approximately 20% of Wilms' tumors.At least half of the Wilms' tumors with mutations in WT1 also carry mutations in CTNNB1, the gene encoding the proto-oncogene beta-catenin Typical signs and symptoms of Wilms' tumor include the following: a painless, palpable abdominal mass loss of appetite abdominal pain fever nausea and vomiting blood in the urine (in about 20% of cases) high blood pressure in some cases (especially if synchronous or metachronous bilateral kidney involvement) Rarely as varicocele Ref Harrison20th edition pg 277
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