5/30/2023 0 Comments Em client 8![]() How is BHD diagnosed?īHD is suspected when a person has skin tumors (fibrofolliculomas) associated with BHD, especially if that person or their family members have a history of lung cysts, spontaneous pneumothorax, or kidney cancer. However, it has been estimated that the carrier frequency is 1 per every 200,000 individuals. The exact number of people and families who have BHD is unknown. How common is BHD?īHD is considered to be rare. For more information, talk with an assisted reproduction specialist at a fertility clinic. However, this is a complex procedure with financial, physical, and emotional factors to consider before starting. PGD has been in use for over a decade, and more recently has been used for several hereditary cancer predisposition syndromes. ![]() The parents can then choose to transfer embryos that do not have the mutation. When the embryos reach a certain size, 1 cell is removed and is tested for the hereditary condition in question. ![]() A woman’s eggs are removed and fertilized in a laboratory. It allows people who carry a specific known genetic mutation to reduce the likelihood that their children will inherit the condition. Preimplantation genetic diagnosis (PGD) is a medical procedure done in conjunction with in-vitro fertilization (IVF). Options exist for people interested in having a child when a prospective parent carries a gene mutation that increases the risk for this hereditary cancer syndrome. Then, with both copies of the FLCN gene altered, the cell loses its ability to suppress tumor growth leading to tumor formation. However, current research shows that tumors develop when there is an acquired second mutation (somatic mutation) in the normal FLCN allele (version of a specific gene). Having the mutation in 1 copy of the gene is enough to cause BHD. Occasionally there are de novo cases in people where the genetic change is present but it was not inherited, called an acquired mutation. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. BHD follows an autosomal dominant inheritance pattern, in which a mutation happens in only 1 copy of the gene but that is enough to cause the condition. Normally, every cell has 2 copies of each gene: 1 inherited from the mother and 1 inherited from the father. ![]() Research is ongoing to learn more about BHD. A tumor suppressor gene’s natural role in the body is to make proteins that prevent tumor formation by limiting cell growth. FLCN is currently thought to be a tumor suppressor gene. A mutation (change) in a specific gene called FLCN, which creates a protein called folliculin, is causes nearly all cases of BHD. This means that the cancer risk and other features of BHD can be passed from generation to generation in a family. What causes BHD?īHD is a genetic condition. When observed, these tumors tend to grow slowly, but they are likely to spread if left untreated. In BHD, it is common for tumors to be on both kidneys (called bilateral) with tumors found in more than 1 place (called multifocal). Many different types of kidney tumor types (histologies) have been seen in people with BHD, with the most common forms being hybrid oncocytic tumors (HOTs), chromophobe, and oncocytoma. Therefore, there is an increased risk of spontaneous pneumothorax (collapsed lung), which is air leaking out of the lungs and into the chest cavity. In general, lung cysts do not cause problems with breathing and are currently not believed to increase the risk of lung cancer. The lung cysts in BHD are commonly at the bases of the lung and are not associated with smoking. Researchers are looking into whether, rather than being different tumors, fibrofolliculomas and trichodiscomas may be different stages of a single process. Other skin tumors associated with BHD are trichodiscomas. These are pale or flesh-colored tumors that occur in the hair follicles. The most common skin tumors in BHD are called fibrofolliculomas. Birt-Hogg-Dubé syndrome (BHD) is a hereditary condition associated with multiple non-cancerous (benign) skin tumors, lung cysts, and an increased risk of kidney lesions (cysts, benign tumors, and kidney cancer.) Symptoms of BHD generally do not appear until adulthood.
0 Comments
Leave a Reply. |