John J. Bissler

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BACKGROUND Angiomyolipomas in patients with the tuberous sclerosis complex or sporadic lymphangioleiomyomatosis are associated with mutations in tuberous sclerosis genes resulting in constitutive activation of the mammalian target of rapamycin (mTOR). The drug sirolimus suppresses mTOR signaling. METHODS We conducted a 24-month, nonrandomized, open-label(More)
Fabry disease is an X-linked lysosomal disease caused by deficiency of alpha-galactosidase A. Signs and symptoms of Fabry disease occurring during childhood and adolescence were characterized in 352 Fabry Registry patients. At enrollment (median age 12 year), 77% of males and 51% of females reported symptoms. The median age of symptom onset was 6 year in(More)
BACKGROUND Angiomyolipomas are slow-growing tumours associated with constitutive activation of mammalian target of rapamycin (mTOR), and are common in patients with tuberous sclerosis complex and sporadic lymphangioleiomyomatosis. The insidious growth of these tumours predisposes patients to serious complications including retroperitoneal haemorrhage and(More)
Renal angiomyolipomata can exist as an imaging curiosity or represent a life-threatening condition. There are likely over 10 million people world-wide who have a renal angiomyolipomata and approximately one tenth of these people also have tuberous sclerosis complex. The optimum treatment of angiomyolipomata is focused on sparing renal tissue and has(More)
PURPOSE To review the renal imaging findings and changes over time in a large series of young patients with tuberous sclerosis complex (TSC). MATERIALS AND METHODS One hundred thirty-nine renal imaging studies (113 ultrasonographic scans, 15 computed tomographic scans, and 11 magnetic resonance images) were identified in 59 patients with TSC (mean age,(More)
Tuberous sclerosis complex (TSC) is an important cause of epilepsy and autism, as well as renal and pulmonary disease in adults and children. Affected individuals are subject to hamartomas in various organ systems which result from constitutive activation of the protein kinase mTOR (mammalian target of rapamycin). The clinical course, prognosis and(More)
Glomerulocystic disease is a rare renal cystic disease with a long descriptive history. Findings from recent studies have significantly advanced the pathophysiological understanding of the disease processes leading to this peculiar phenotype. Many genetic syndromes associated with glomerulocystic disease have had their respective proteins localized to(More)
Approximately 75% of patients with tuberous sclerosis complex develop renal angiomyolipomas. These hamartomatous lesions distort and damage renal parenchyma and can lead to hemorrhage. To reduce the risk of hemorrhage, transarterial embolization is used to necrose the angiomyolipoma while sparing normal renal tissue. Although an effective renal-sparing(More)
BACKGROUND Mammalian target of rapamycin (mTOR) inhibitors are recommended as first-line treatment of renal angiomyolipoma associated with tuberous sclerosis complex (TSC) or sporadic lymphangioleiomyomatosis (sporadic LAM), but follow-up is limited. Longer term efficacy and tolerability data from a Phase 3, double-blind, placebo-controlled trial are(More)
BACKGROUND Renal angiomyolipomata can reduce renal reserve and lead to renal insufficiency and failure. Angiomyolipomata often have abnormal vasculature, with aneurysms that can hemorrhage. Treatment of angiomyolipomata greater than 4 cm in diameter is suggested to decrease the risk for hemorrhage. Nephron-sparing procedures are critical in patients because(More)