Nail syndrome and tea cake bone

Nail syndrome and tea cake bone's disease overview

nail syndrome and tea cake bone (nail-patella syndrome) is a condition characterized by the abnormalities of the nail, knee, elbow and pelvis. 

In nail syndrome and tea cake bone, nails may not have or not develop fully, may even change discoloration. The nails are maximized and worse than the nails in the thumb. Symptoms of Paenmun's nail syndrome are different in terms of seriousness between affected individuals, even among members of the same family.

Uncompleted tea bone bone syndrome, can be encountered at a rate of about 1/50000 people. 

Paen "bone nail syndrome is a congenital genetic disease, related to mutations in the LMX1B gene belonging to the long arm of chromosomes No. 9 (9Q34). Children with diseases have kidney dysfunction, underdeveloped or non -developed toenails, pancakes change shape, ...

Causes of Nail syndrome and tea cake bone's disease

The gene is responsible for the foundation syndrome and the patella bone is the LMX1B gene. This gene is responsible for guiding the production of a protein that functions to the positions of DNA and regulates the activity for other genes. The mutations in this gene produce protein that loses function attached to DNA. This is the cause of the foundation syndrome and tea cake bone.

Calum and patella syndrome is a genetic genetic disease.

When a parent has a nail syndrome and a patella bone, it is capable of transmitting a genetic gene to the child at a rate of 50%. 

About 88% of people with nail syndrome and patella bone are genetic from parents. The patient's father or mother may not know if he has this syndrome because of the mild symptom.

However, about 12% of people with foundation syndrome and tea cake bone with a completely healthy parents are not infected, called new cases, may be due to genetic mutations in the process of formation. embryo.

Symptoms of Nail syndrome and tea cake bone's disease

When suffering from nail syndrome and tea cake bone, patients can face different signs and symptoms.

The common symptoms of nail syndrome and patella bone are:

  • Reduce tea cake bone on X-ray images
  • There is a benign bone tumor on the image of the right shore of the pelvic wings

    • Unstable knees

    Restricting the movement of the elbow

  • Rotary bone head disorder

    • Excessive open joints

    Scoliosis

  • Disabled shoulder blades

    • People at risk for Nail syndrome and tea cake bone's disease

    Families with relatives with foundation syndrome and patella bone are an important risk factor, because this syndrome is a genetic condition.

    In addition, there are no other risk factors that are shown to be related to the foundation syndrome and patella bone.

    Prevention of Nail syndrome and tea cake bone's disease

    Currently, there is no method that can prevent nail syndrome and patella bone. However, to avoid infusion of disease genes to children, patients can apply the following methods:

  • Genetic screening test for family members of the infected person to detect and treat the disease early.

    • Genetic advice before marriage and before pregnancy for people with foundation syndrome and patella bone on the risk of being able to transmit genetic genes to the baby.

  • Genetic diagnosis before implantation: Similar to the method of in vitro fertilization but the embryos will be checked before transplanting into the uterus, if the embryo carries the disease gene will be removed.

    • Diagnostic measures for Nail syndrome and tea cake bone's disease

    Diagnosis of foundation syndrome and tea cake bone depends mainly on clinical symptoms. 

    In addition, doctors may prescribe blood tests to check the mutations in the LMX1B gene. 

    Nail syndrome and tea cake bone's disease treatments

    There is no effective method to thoroughly treat nail syndrome and tea cake bone. The purpose of the treatment is to reduce the symptoms and signs of affecting bones and joints.

    Methods of treating nail syndrome and tea cake bone include:

  • Bones and joints are affected by nail syndrome and patella bone can be treated using painkillers, physical therapy, braces or support, even. Surgery if the condition causes serious complications, adversely impact on health.
  • Avoid using drugs in NSAIDs in nail syndrome and patella bone because these drugs can affect kidney function.

    • For complications such as hypertension: Treatment with medications of the enzyme inhibitor group

  • Strict monitoring of glaucoma or renal dysfunction is required for patients diagnosed with foundation and tea syndrome.

    • Genetic advisory is necessary for patients with nail syndrome and patella bone because this is a chromosome disorder that often has a dominant gene.

    See also:

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