divya888
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A 21-year-old college student had an acute onset of left-sided flank pain during class. The pain was described as “intense throbbing” and rated 9/10 with no notable radiation. The patient has no nausea, vomiting, or fever, and on urination, her urine does not appear red or dark. She does not remember having any recent injury or unusual activity, and this was the first time she had ever had this type of pain. Her medical history is significant for reactive airway disease, and she is currently taking montelukast (Singulair), levalbuterol (Xopenex), and mometasone (Nasonex). She denies illicit substance abuse and is a social smoker. Her family history is unremarkable for kidney stones or neoplastic abdominal disorders.
On physical examination, the patient is mildly tachycardic with a regular heart rate of 105 bpm, but her vital signs were otherwise normal. Her lungs are clear to auscultation. Her skin was pale and diaphoretic. The left side of her abdomen is tender to deep palpation, without guarding or rebound. She also has tenderness to palpation at the left costovertebral angle. Laboratory investigation reveals only an elevated WBC count at 12.6 X 109/L (12.6 X 103/μL) and a slightly decreased hemoglobin concentration of 11.9 g/dL (normal range, 12.0-16.0 g/dL). Findings on urinalysis and a pregnancy test were negative.
Nonenhanced (see Image 1) and contrast-enhanced (see Image 2) CT scans were ordered.
What is the diagnosis, and why should the patient be urgently transferred to a tertiary care hospital?
Hint
The patient has no history of tuberous sclerosis.
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There is a mass compressing to the left kidney !
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Answer: Von Hippel Lindau Disease (I never saw a question in the exam about VHL)
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von Hippel-Lindau syndrome is principally associated with a type of renal cell carcinoma called clear cell carcinoma characterised by a packeted appearance of groups of tumour cells which have a clear cytoplasm. But it is also associated with hereditary clear cell carcinoma, and a vast majority of sporadic cancers are also of clear cell type. As expected, the sporadic tumours are usually solitary, and the familial tumours are usually multiple. But what is interesting is that the same type of alterations are seen in both familial and sporadic tumours.
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VHL
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What is Von Hippel-Lindau Disease (VHL)?
von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas (or angiomas in the eye). Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Cysts (fluid-filled sacs) and/or tumors (benign or cancerous) may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially "kidney cancer." !!!!!!!!!!!!!!!!!!
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Von Hippel-Lindau (VHL) disease is a hereditary devastating cancer syndrome, predisposing to the development of various benign and malignant tumours (Central Nervous System [CNS] and retinal hemangioblastomas, endolymphatic sac tumours, renal cell carcinoma (RCC) and/or renal cysts, pheochromocytomas, pancreatic cysts and neuroendocrine tumours, endolymphatic sac tumours, epididymal and broad ligament cystadenomas). VHL disease is the first cause of hereditary kidney cancer
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VHL is the "FIRST" cause of hereditary kidney canceer in a young woman !!!!
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Two new compounds
In December 2005, the FDA approved a compound known as Nexa var, a new anti-cancer compound used to treat adults with advanced renal cell carcinoma, the most common type of kidney cancer. This was previously known as BAY 43-9006.
In January 2006, the FDA approved a compound known as Su tent, a new "targeted" therapy for use against two types of cancer: gastrointestinal stromal tumor (GIST), a rare form of stomach cancer, and advanced kidney cancer. This was previously known as SU 11248, the successor to SU 5416.
Approval for RCC is based on partial response rate and duration of response. There are no randomized trials demonstrating clinical benefits such as increased survival or improvement in disease- related symptoms.
See full story
What does this mean for VHL?
Both these compounds are in a category that would be expected to be useful with VHL. At the moment, however, they have been approved only for use with metastatic disease -- after kidney cancer has spread to other organs outside the kidney.
Up to this point, very few people with VHL have participated in the trials. We still have a number of key questions: Will these drugs shrink VHL tumors and prevent metastasis? Is it safe to take these drugs for more than a few weeks? What other side effects might there be when you take the drug for a longer period of time?
Reimbursement
There is another key question: will my insurance company pay for this treatment? Unless the product label says "approved for use with VHL", insurance companies may well decline to pay, considering its use with VHL to be "investigational".
Gaining Approval -- or not -- for VHL
If you and your physician feel that one of these compounds might be the things for you to try, please help our entire community by making sure that what you and your doctor learn becomes part of a central collection of information about using these drugs with VHL. By compiling our learning together we will either learn their limitations, or we will gain approval "for VHL". Because we are a small community, we need to hear from EVERYONE's experiences, and we need that feedback to be structured in a way that we can add it all together and figure out what's going on.
Here's the plan:
Doctors may contact Dr. David F. McDermott, Clinical Director, Biologic Therapy Program, Dana Farber/Harvard Cancer Center Renal SPORE program. Dr. McDermott will be happy to discuss a case with the physician, but not with the patient directly. He is also in touch with a number of other clinical trials which might be even more appropriate for the patient's particular situation.
If patients have questions, please ask them to call the VHL Family Alliance Hotline. We will do our best to answer questions, or will seek answers and reply.
Dr. McDermott is working with the pharmaceutical companies and other clinical researchers to set up a "protocol", a set of guidelines for the administration of the drug, so that everyone using it will be doing so in a consistent way, and our learning will be structured.
For people outside North America, please give physicians the same referral to the VHLFA or to Dr. McDermott. We will all need to work together globally to learn enough to gain approval for VHL for any drug.
CMEs from Harvard - Kidney Cancer Update
There is a Regional Kidney Cancer Symposium at the Boston Marriott Copley Place in Boston on April 7, 2006. This meeting is geared towards community medical oncologists, urologists, and their nursing staffs. It is a comprehensive update on what is going on in the arena of kidney cancer treatment and research. You will find the brochure on the SPORE website. Medical professionals can earn up to 8.5 CMEs from Harvard Medical School. Registration materials on the SPORE website
Many thanks and all best wishes,
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What is Tuberous Sclerosis?
Tuberous sclerosis-also called tuberous sclerosis complex (TSC)1 - is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It commonly affects the central nervous system and results in a combination of symptoms including seizures, developmental delay, behavioral problems, skin abnormalities, and kidney disease.
The disorder affects as many as 25,000 to 40,000 individuals in the United States and about 1 to 2 million individuals worldwide, with an estimated prevalence of one in 6,000 newborns. TSC occurs in all races and ethnic groups, and in both genders.
The name tuberous sclerosis comes from the characteristic tuber or root-like growths in the brain, which calcify with age and become hard or sclerotic. The disorder-once known as epiloia or Bourneville's disease-was first identified by a French physician more than 100 years ago.
TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. As a result, TSC is frequently unrecognized and misdiagnosed for years.
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clear cell carcinoma of the kidney
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Von Hippel-Lindau disease is a very rare illness in which several tumors run in families. Afflicted individuals can develop cancers of the kidney, brain, spinal cord, pancreas, adrenal gland and eye. The gene (VHL) that causes von Hippel-Lindau disease was discovered in 1993. Because the VHL gene was found, it is now possible to do DNA diagnosis in members of families with von Hippel-Lindau disease.
More than 500 members of von Hippel-Lindau disease families have come to the National Cancer Institute, National Institutes of Health for examinations and evaluations as part of the Familial Kidney Tumor Program. Physicians at the National Institutes of Health have become quite experienced and knowledgeable in the treatment of people afflicted with this health problem. Special surgical procedures have been developed to remove kidney tumors from patients with von Hippel-Lindau disease without removing the entire kidney.
Research scientists around the world have identified mutations that cause von Hippel-Lindau disease. More than 130 different mutations in the VHL gene have been identified to date.
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renal cell carcinoma
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| chemamr
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which is the given answer divya????
is this a clear cell carcinoma = nephrectomy+maybe looking for mets/other tumors?
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Spontaneous hemorrhage of angiomyolipoma (AML): The initial nonenhanced CT scan of the abdomen reveals a large, heterogeneous, 6-cm exophytic mass extending from the lower pole of the left kidney (see Image 1). Multiple foci of fat attenuation are seen in the mass and are consistent with an AML. In addition, the image shows heterogeneous, high-attenuating fluid in and surrounding the mass; this finding is most consistent with blood and suggests acute hemorrhage given the abrupt onset and intensity of the patient’s symptoms. The follow-up enhanced CT scan (see Image 2) demonstrates heterogeneous enhancement of the mass, along with focal areas of hyperattenuation consistent with active extravasation of contrast versus a pseudoaneurysm formation.
Subsequent catheter angiography (see Image 3) performed at the referral center reveals a hypervascular mass with neovascularity, tumoral blush, and evidence of a fusiform aneurysmal dilatation. The blood supply seems to arise from 3 hypertrophied segmental arteries of the lower pole of the left kidney. No active extravasation is noted.
The tumor is completely embolized with sequential 1- to 2-mL aliquots of 500- to 750-µm polyvinyl alcohol (PVA) particles. The postembolization selective angiogram (see Image 4) demonstrates complete occlusion of the feeding vessels. Postembolization syndrome was successfully treated with a morphine patient-controlled analgesic (PCA) pump. The patient’s hemoglobin concentration steadily rose, and she was discharged home after 3 days. At 6-month follow-up, the tumor shrunk to 3 cm, with no recurrent hemorrhage or other complication.
An AML is a benign renal lesion with a prevalence of 0.3-3.0%. It is composed of an abnormal collection of 3 primary components: unusual abdominal blood vessels, clusters of adipocytes, and sheets of smooth muscle. AMLs are either isolated (approximately 80%) or associated with tuberous sclerosis. Isolated AMLs are typically small, solitary, and asymptomatic, and they occur in middle-aged adults. In contrast, AMLs associated with tuberous sclerosis are usually multiple and bilateral, and they occur before the fourth decade of life. They often enlarge (few millimeters to >20 cm) and are commonly symptomatic. AMLs occur in about 80% of patients with tuberous sclerosis. Symptomatic AMLs can lead to hematuria, flank pain, and hypotension from spontaneous hemorrhage. They are often detected as a palpable abdominal mass.
CT is the preferred imaging technique for diagnosing and characterizing AMLs. Intratumoral fat is virtually pathognomonic for these tumors, though isolated reports also describe renal cell carcinomas, Wilms tumors, oncocytomas, teratomas, and lesions of xanthogranulomatous pyelonephritis containing intratumoral fat. Renal lipomas and liposarcomas can also occur but are exceedingly rare. Unlike AMLs, these lesions are typically not intraparenchymal and do not have aneurysmal feeding vessels. Most authorities agree that renal parenchymal tumors containing intratumoral fat can be diagnosed as AMLs on the basis of imaging features alone. Additional characteristic findings are enlarged or aneurysmal vessels in the tumor, homogeneous tumoral enhancement, and a prolonged enhancement pattern. MRI can also be used to detect intratumoral fat. Ultrasonography can assist in monitoring the growth of a lesion.
AMLs typically have a benign course, but patients occasionally present with complications, such as sudden pain or hypotension secondary to spontaneous hemorrhage in the tumor. (Wunderlich syndrome is defined as spontaneous, nontraumatic bleeding of renal origin in the subcapsular or perirenal space.) As many as 55% of cases of spontaneous perirenal hemorrhage (SPH) are secondary to an underlying renal cell carcinoma. The remaining cases are usually due to another type of tumor (AML, lipoma, adenoma, fibroma, papillary carcinoma), a vascular abnormality (vasculitis, aneurysm), an infection, or an iatrogenic cause.
Management of most asymptomatic AMLs as large as 4 cm is expectant. Sonography every 6-12 months is recommended because most tumors grow slowly. If the patient is symptomatic or the tumor grows rapidly or is >4 cm, angiography and selective arterial embolization or renal-sparing surgical excision are the preferred treatments. Patients treated with embolization often develop postembolization syndrome characterized by fever, flank pain, and nausea. This syndrome is thought to be due to an inflammatory response to necrotic tissue. Adequate pain medication and a tapered course of prednisone are useful in managing this condition.
Patients with AMLs treated with embolization generally have favorable results. Studies in patients with tuberous sclerosis suggest that no episodes of renal failure or hemorrhage occur after embolization and that the tumor shrinks; however, some evidence suggests a high rate of tumoral recurrence on long-term follow-up in these patients .
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Thank you. I have your diagnosis of AML but it is so rare so I did not put into my mind !
Great case !!!
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Thanks ! But please do not post these kind of cases.
The exam will NEVER ask AML because there are only 30 seconds to read the question and 20-25 seconds to decide.
CT scan is not asked in the board except you take the radiology board ! Echo is asked in the cardiology board.
So I hope my message is loud and clear. Stay within the framework of USMLE and work together to promote the knowledge of medicine related to USMLE !
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