Tuberous Sclerosis Complex (TSC)

Tuberous sclerosis complex (TSC) is a rare genetic condition that causes tumors to grow in many different organs of the body. Tumors grow most often in the brain, skin, heart, eyes, kidneys, and lungs. Almost all of these tumors are benign (not cancerous), but they can cause a variety of health problems.

TSC的症状通常出现在孩子6个月之前。条件的严重程度可以广泛变化 - 在一些儿童中，疾病非常温和，而其他孩子可能具有危及生命的并发症。

结核硬化复合体的症状是什么？

结核硬化复合体（TSC）的症状从一个孩子到下一个孩子差异很大，具体取决于身体的部分受影响的部分。在一些孩子们，这种疾病涉及在生活中早期呈现的严重健康问题，而其他儿童可能具有这种轻微的症状，它们并未诊断出TSC，直到生命后的大都会。每个人都会在他们的生活中经历TSC的症状。

Common symptoms may include:

• Heart tumors.About 50 percent of people with TSC have non-cancerous tumors in the heart, called rhabdomyomas. Most rhabdomyomas do not grow, and either get smaller or stay the same size. In some cases, a baby may be diagnosed with TSC before birth if these heart tumors are found on a fetalechocardiogram。具有多于一个横纹肌瘤的婴儿具有较高的诊断TSC的可能性。
• Skin lesions。One of the earliest signs of tuberous sclerosis is white skin patches on a baby’s body, called hypomelanotic macules. As the child gets older, he or she may develop other lesions such as a rash across the cheeks and nose, areas of thickened skin, and small bumps under the fingernails or toenails.
• 脑瘤。TSC的儿童也可能在大脑中具有一种或多种类型的肿瘤。最常见的是皮质块茎，子依赖性巨型细胞星形细胞瘤（SEGA）和子依任性结节。虽然有些孩子可能没有任何这些肿瘤，但大多数有TSC的孩子都至少有一个。
• 缉获。About 85 percent of children with TSC have癫痫由脑部肿瘤引起的。婴儿通常有一个o型f seizure called infantile spasms, which involve brief, repetitive muscle contractions and movements in the head, trunk, arms, and legs. These seizures can look like colic or an abdominal problem. Older children and adults may have other types of seizures including generalized, complex partial, and other focal seizures. More than 50 percent of those who have epilepsy have seizures that do not respond to standard medication.
• Kidney lesions.Over 80 percent of people with TSC have some type of kidney (renal) lesion. The three most common are renal cysts, renal angiomyolipomas, and renal carcinomas. Renal angiomyolipomas are the most common, occurring in more than 80 percent of TSC patients. About 50 percent of people with TSC have renal cysts, which are generally benign, fluid-filled “holes” on the kidney. Cysts can sometimes cause increased blood pressure, and if the kidney becomes filled with cysts, it can cause problems with kidney function. Renal carcinoma, a cancerous growth on the kidney, is the least common type of kidney lesion.
• Eye lesions。Some children with TSC have lesions on the retina or optic nerve called hamartomas. Most of these lesions stay dormant, and don't usually result in a loss of vision. White patches, or retinal pigmentary disturbances, sometimes appear on the retina, iris, or eyelashes. These white patches aren't harmful and don't require treatment.

结核硬化复合体的原因是什么？

肺结核硬化是一种常染色体显性遗传条件，其是由变化（致病变异）引起的TSC1.orTSC2.基因。这表示：

• 女孩和男孩有平等的风险。
• 只有一种基因拷贝的变化会导致TSC。如果父级具有它，则将继承的条件。
• People with tuberous sclerosis have a 50 percent chance of passing the condition to their children.

About one-third of children with TSC inherited the genetic condition from a parent. However, for the other two-thirds of children with TSC, the condition is "spontaneous," meaning that the DNA change is the first instance of that change in the child's family.

有时发现一个有TSC的孩子有一个父母，父母也有这种情况，但不知道。如果您的孩子被诊断为TSC，您可能希望完成遗传测试，以了解您是否拥有它。

If you have one child with TSC, there is an increased chance that your other children will also have the condition.

How we care for tuberous sclerosis complex

At Boston Children’s Hospital, theMultidisciplinary Tuberous Sclerosis Programis a team of pediatric specialists who are dedicated to providing coordinated care for children with TSC. The program is directed by a child neurologist, registered nurse coordinator, and a genetic counselor who are experienced in working with patients and families affected by TSC.