Handbook of Abiogenetic Counseling Von Hippel-Lindau Affection

 18 June 06:22   Von Hippel-Lindau Syndrome

    ***Y98H, Y112H, V116F, L188V

    **Type 2B

    ***With renal corpuscle blight and pancreatic cysts

    ***R167Q and R167W

    **Type 2C

    ***With pheos only

    ***V155L and R238W

    *Clinical diagnosis

    **Features bare for diagnosis

    ***Isolated case with two or added appropriate lesions

    ***Asymptomatic alone with absolute ancestors story with one or added of following

    ****Retinal hemangioblastoma

    ****Spinal or cerebellar hemangioblastoma

    *******Multiple pancreatic cysts

    ****Epididymal cystadenoma

    ****Multiple renal cysts

    ****Renal corpuscle blight afore age 60

    **Tests acclimated to create diagnosis

    ***CT scans or MRI to attending for CNS and belly tumors

    ***Ultrasound assay of epididymus, ample ligament, and possibly kidneys

    ***Radioiodine labeled MIBG if extra-adrenal tumors are susected

    ***Urinary catecholamine metabolite analysis

    ****VMA, metanephrine, and absolute catecholamine

    ****Suggest attendance of pheos even if hypertension not present

    *Molecular abiogenetic testing

    **Available clinically

    **For cases that accommodated austere analytic criteria, alteration apprehension nears 100%

    ***Southern blotting

    ****Detects complete or fractional gene deletions

    ****Responsible for about 28% of cases

    ***DNA arrangement analysis

    ****Of all three exons to ascertain point mutations

    ****Missense mutations not ahead characterized haveto be interpreted with caution

    **Indicated in all individuals with accepted or doubtable VHLdiagnosis

    **Prenatal testing

    ***For pregnancies at 50% accident if alteration articular in afflicted parent

    ***Typically adult-onset so requires accurate abiogenetic counseling

    *Surveillance

    **DNA testing in at-risk ancestors associates can abate charge for cher screening in those who analysis negative

    **Early acceptance of manifestations may acquiesce for bigger outcome

    **Ophthalmological screening alpha at age 5

    **Annual claret burden ecology and altitude of urinary catecholamine metabolites alpha at age 5 in families with pheos

    **Annual belly ultrasound alpha at age 16

    **CT or MRI of apprehensive lesions in kidney, adrenal gland, or pancreas

    **Possible baseline MRI of academician and back in adolescent adults

    *Management of tumors

    ***Some apostle aboriginal surgical abatement while others chase lesions with imaging

    ***Most lesions eventually crave intervention

    ***Gamma knife anaplasty can be acclimated for baby tumors or those in busted sites

    ***Surgical complications cover paraplegia and accessible bloodshed (10%)

    **Retinal hemangioblastoma

    ***Laser and cryosurgery acclimated with capricious degrees of success depending on location, size, and amount of lesions

    ***Recurrent tumors accept been noted

    **Renal corpuscle carcinoma

    ***Early anaplasty is best option

    ***Renal transplantation in patients who crave mutual nephrectomy

    ****Surgically removed

    ***Preoperative analysis with alpha-adrenergic barricade for 7-10 days

    **Endolymphatic sac tumors

    ***Slow growing

    ***Possible deafness if removed

    **Epididymal or ample bond papillary cyst adenomas usually dont crave surgery

    *American Blight Society

    :1-800-227-2345

    :Web: www.cancer.org

    *VHL Ancestors Alliance

    :1-800-767-4845

    :Email: info@vhl.org

    :Web: www.vhl.org

    *www.geneclinics.org, www.cancer.org, www.vhl.org

    *Hes FJ, et al. Analytic Administration of Von Hippel-Lindau (VHL) Disease. The Netherlands Account of Anesthetic (2001) 59: 225-234.

    The advice in this outline was endure adapted in Oct 2002.