The nephrology panel attending the Consensus Conference agreed with deleting the designation of

“renal” in the major feature “renal angiomyolipomas” to now use “angiomyolipomas ≥2” in the clinical diagnostic criteria. selleck products Angiomyolipomas have been identified in TSC patients in organs other than the kidney including the liver.60 As a result, “angiomyolipomas (≥2)” was added to the major features. The nephrology panel recommended not using the abbreviation “AMLs” for angiomyolipomas. Although this abbreviation has been commonly used among individuals familiar with TSC, in most medical contexts it is more familiarly associated with acute myelocytic leukemia and thus introduces confusion across specialties. The nephrology panel also recommended retaining “multiple renal cysts” as a minor feature. This recommendation was accepted by the other panelists. Additionally, it was agreed that Ku-0059436 molecular weight an individual who has LAM and renal angiomyolipomas but no other features of TSC does not meet criteria for a definite diagnosis because of the previously reviewed information regarding S-LAM. Renal

manifestations in TSC are an important source of morbidity and mortality. In the only publication assessing mortality associated with TSC,61 renal problems in TSC were the second leading cause of premature death after severe intellectual disability. With advances in medical care, death in TSC from renal disease is much less likely; however, it continues to represent a significant medical burden to TSC patients. Angiomyolipomas are benign tumors composed of vascular, smooth muscle, and adipose tissue (Fig 13).62 These benign tumors are observed most commonly in TSC patients in the kidney but can occur in other organs. To be inclusive of angiomyolipomas in other organs, it was decided to delete “renal” and simply use the term “angiomyolipomas (N ≥ 2)” as a major recognized feature. Angiomyolipomas are a feature relatively specific to TSC. Fat-containing angiomyolipomas

were observed in 80% of TSC patients, and fat-poor lesions are also common in patients Tyrosine-protein kinase BLK with TSC, but occur in less than 0.1% of the general population.63 Angiomyolipomas in the kidney can cause serious issues with bleeding because of its vascular nature and can lead to need for dialysis and even renal transplantation.64 Multiple renal cysts are not commonly observed in the general population,65 but can be seen in TSC patients who have a TSC1 or TSC2 mutation or as part of a contiguous gene deletion syndrome involving the TSC2 and PKD1 genes. 62 The TSC2 and PKD1 genes are immediately adjacent and transcribed in opposite directions on chromosome 16p13.3. Deletions involving both genes have been described in a small subset of TSC patients who have the TSC phenotype as well as an aggressive PKD phenotype.