【佳学基因检测】滋-克-埃三氏综合征基因解码、基因检测

基因解码导读：

此处写摘要部分，强调滋-克-埃三氏综合征疾病状态、基因的影响及致病基因鉴定基因解码的作用

什么样的人应当做滋-克-埃三氏综合征基因解码、基因检测？

此处写临床征况Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oralleukoplakia).

People with dyskeratosis congenita have an increased risk of developing several life-threatening conditions. They are especially vulnerable to disorders that impair bone marrow function. These disorders disrupt the ability of the bone marrow to produce new blood cells. Affected individuals may develop aplastic anemia, also known as bone marrow failure, which occurs when the bone marrow does not produce enough new blood cells. They are also at higher than average risk for myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally; this condition may progress to a form of blood cancer called leukemia. People with dyskeratosis congenita are also at increased risk of developing leukemia even if they never develop myelodysplastic syndrome. In addition, they have a higher than average risk of developing other cancers, especially cancers of the head, neck, anus, or genitals.

People with dyskeratosis congenita may also develop pulmonary fibrosis, a condition that causes scar tissue (fibrosis) to build up in the lungs, decreasing the transport of oxygen into the bloodstream. Additional signs and symptoms that occur in some people with dyskeratosis congenita include eye abnormalities such as narrow tear ducts that may become blocked, preventing drainage of tears and leading to eyelid irritation; dental problems; hair loss or prematurely grey hair; low bone mineral density (osteoporosis); degeneration (avascular necrosis) of the hip and shoulder joints; or liver disease. Some affected males may have narrowing (stenosis) of the urethra, which is the tube that carries urine out of the body from the bladder. Urethral stenosis may lead to difficult or painful urination and urinary tract infections.

The severity of dyskeratosis congenita varies widely among affected individuals. The least severely affected individuals have only a few mild physical features of the disorder and normal bone marrow function. More severely affected individuals have many of the characteristic physical features and experience bone marrow failure, cancer, or pulmonary fibrosis by early adulthood.

While most people with dyskeratosis congenita have normal intelligence and development of motor skills such as standing and walking, developmental delay may occur in some severely affected individuals. In one severe form of the disorder called Hoyeraal Hreidaarsson syndrome, affected individuals have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. Another severe variant called Revesz syndrome involves abnormalities in the light-sensitive tissue at the back of the eye (retina) in addition to the other symptoms of dyskeratosis congenita.

滋-克-埃三氏综合征临床验证？

此处写这种病的常规临床诊断检测方法及期局限

滋-克-埃三氏综合征基因解码

此处写滋-克-埃三氏综合征与基因的关系，具体基因忽略，采用《人基因序列变化与人体疾病表征》表明一种基因，另一种基因，还有一个基因，第四个基因。可以描述功能，但不写基因代号，具体位点等。

常规临床诊断容易与滋-克-埃三氏综合征混淆的疾病？

此处写与这种病有相同或部分相同临床特征的疾病名称

滋-克-埃三氏综合征的个性化治疗与看护

此处写个性化用药方案，避免二胎或后代再次患病，基因矫正进展

在哪儿做ZAP70相关严重联合免疫缺陷基因解码、基因检测？

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擅长滋-克-埃三氏综合征的治疗

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