Symptoms and treatment of the von hippel lindau syndrome vhl

The Doyne Memorial Lecturs: Eye symptoms in phakomatoses. Tr Ophth Soc UK.

Symptoms and treatment of the von hippel lindau syndrome vhl

Laboratory tests[ edit ] Laboratory tests are generally conducted when the patient presents with signs and symptoms that may be characteristic of kidney impairment. They are not primarily used to diagnose kidney cancer, due to its asymptomatic nature and are generally found incidentally during tests for other illnesses such as gallbladder disease.

Laboratory analysis can provide an assessment on the overall health of the patient and can provide information in determining the staging and degree of metastasis to other parts of the body if a renal lesion has been identified before treatment is given.

Urine analysis[ edit ] The presence of blood in urine is a common presumptive sign of renal cell carcinoma.

How Is VHL Diagnosed?

The haemoglobin of the blood causes the urine to be rusty, brown or red in colour. Alternatively, urinalysis can test for sugarprotein and bacteria which can also serve as indicators for cancer. A complete blood cell count can also provide additional information regarding the severity and spreading of the cancer.

Such cells examined for in this test include red blood cells erythrocyteswhite blood cells leukocytes and platelets thrombocytes.

A common sign of renal cell carcinoma is anaemia whereby the patient exhibits deficiency in red blood cells. Blood chemistry[ edit ] Blood chemistry tests are conducted if renal cell carcinoma is suspected as cancer has the potential to elevate levels of particular chemicals in blood.

For example, liver enzymes such as aspartate aminotransferase [AST] and alanine aminotransferase [ALT] are found to be at abnormally high levels. Blood chemistry tests also assess the overall function of the kidneys and can allow the doctor to decide upon further radiological tests.

Radiology[ edit ] The characteristic appearance of renal cell carcinoma RCC is a solid renal lesion which disturbs the renal contour. It will frequently have an irregular or lobulated margin and may be seen as a lump on the lower pelvic or abdomen region.

Ten percent of RCC will contain calcificationsand some contain macroscopic fat likely due to invasion and encasement of the perirenal fat. As there are several benign cystic renal lesions simple renal cyst, haemorrhagic renal cyst, multilocular cystic nephromapolycystic kidney diseaseit may occasionally be difficult for the radiologist to differentiate a benign cystic lesion from a malignant one.

Computed tomography[ edit ] Contrast-enhanced computed tomography CT scanning is routinely used to determine the stage of the renal cell carcinoma in the abdominal and pelvic regions.

CT scans have the potential to distinguish solid masses from cystic masses and may provide information on the localization, stage or spread of the cancer to other organs of the patient.

Key parts of the human body which are examined for metastatic involvement of renal cell carcinoma may include the renal veinlymph node and the involvement of the inferior vena cava.

This safe and non-invasive radiologic procedure uses high frequency sound waves to generate an interior image of the body on a computer monitor.

The image generated by the ultrasound can help diagnose renal cell carcinoma based on the differences of sound reflections on the surface of organs and the abnormal tissue masses. Essentially, ultrasound tests can determine whether the composition of the kidney mass is mainly solid or filled with fluid.

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However this is not routinely performed because when the typical imaging features of renal cell carcinoma are present, the possibility of an incorrectly negative result together with the risk of a medical complication to the patient may make it unfavourable from a risk-benefit perspective.

MRI can be used instead of CT if the patient exhibits an allergy to the contrast media administered for the test. Patients on dialysis or those who have renal insufficiency should avoid this contrasting material as it may induce a rare, yet severe, side effect known as nephrogenic systemic fibrosis.

MRI scans should also be considered to evaluate tumour extension which has grown in major blood vessels, including the vena cavain the abdomen.

Symptoms and treatment of the von hippel lindau syndrome vhl

MRI can be used to observe the possible spread of cancer to the brain or spinal cord should the patient present symptoms that suggest this might be the case. Intravenous pyelogram[ edit ] Intravenous pyelogram IVP is a useful procedure in detecting the presence of abnormal renal mass in the urinary tract.

This procedure involves the injection of a contrasting dye into the arm of the patient. The dye travels from the blood stream and into the kidneys which in time, passes into the kidneys and bladder.

This radiologic test is important in diagnosing renal cell carcinoma as an aid for examining blood vessels in the kidneys. This diagnostic test relies on the contrasting agent which is injected in the renal artery to be absorbed by the cancerous cells.

No lymph node involvement or metastases to distant organs.- VHL GENE; VHL - VHL Role in Tumor Suppression.

Symptoms and treatment of the von hippel lindau syndrome vhl

Maher et al. () compared age incidence curves for sporadic cerebellar hemangioblastoma and sporadic renal cell carcinoma to those for familial forms of these tumors that occur as part of von Hippel-Lindau syndrome ().The curves for tumors in VHL syndrome were .

52 rows · Feb 02,  · The VHL Family Alliance has teamed up with the National Disease . Von Hippel Lindau disease was first described at the beginning of the 20th century by Eugen von Hippel and Arvid Lindau. VHL is an inherited mutation of the von Hippel Lindau gene, which is .

Von Hippel-Lindau syndrome (VHL) is a hereditary condition associated with tumors arising in multiple organs. Tumors in VHL include hemangioblastomas, which are blood vessel tumors of . Von Hippel-Lindau disease is a rare hereditary disorder that causes noncancerous and/or cancerous tumors to develop in several organs.

What is von Hippel-Lindau syndrome? Von Hippel-Lindau syndrome (VHL) is a hereditary condition associated with tumors arising in multiple organs. Von Hippel-Lindau syndrome (VHL) is a hereditary condition associated with tumors arising in multiple organs. Tumors in VHL include hemangioblastomas, which are blood vessel tumors of . Mutations in the VHL gene cause von Hippel-Lindau VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein.

Children may have headaches, impaired vision, or high blood pressure and feel dizzy or weak. Von Hippel-Lindau (VHL) disease is a rare genetic disorder predisposing to a variety of malignant and benign neoplasms. Von Hippel-Lindau Disease (VHL): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis.

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