Hypophosphatemic+Rickets

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     __  Hypophosphatemic Rickets  __ ======

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**  What is Hypophosphatemic Rickets? ** When you hear this you think wow this is a really big word so it must be confusing. It’s really not. If you take apart the word it is easier to understand. Think of it as hypo-phosphatemic- Rickets. Hypo meaning without, phosphatimic meaning phosphorous, and rickets meaning twisted or bowed. In all it is without phosphorous and bowed. This disease is a bone disease. When it says bowing, it means your bones. This disease makes your bones bowed. This disease can cause bone pain and people that have it grow slower than normal people bone wise so they are normally shorter than everyone else. ======

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The disease is caused by a mutation in the PHEX gene. This gene is passed generation to generation. This gene is in your kidney. That part of your kidney absorbs and releases phosphorous when needed. If you have this disease, then that part of your kidney doesn’t know how to release and absorb phosphorous correctly, so it lets out more phosphorous than it takes in into your waste, so not enough goes into your bloodstream to assist the vitamin D to get active and put calcium in your bones and help them grow. In the PHEX gene, there is a protein called fiber blast 23. When you have this condition, you don’t have the fiber blast protein in your PHEX gene. This protein is what helps absorb and release phosphorous correctly, so without this protein you can’t release and absorb phosphorous correctly. ======

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This disease is an X- linked disease. When a disease is x-linked, it means that it is attached to the X chromosome. This disease is a genetic disease so if you have it, you get it from one of your parents. This disease occurs for 1 out of 20,000 people. This gene has 3 ways of passing it down. Since this is X linked, and in every X- linked disease the father cannot pass it don’t to his son. ======

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1. When the condition is inherited with the PHEX mutation, the condition is X- linked ** dominant. **The PHEX gene is on the X chromosome. For girls, this type of inheritance is easier for girls to get it than boys. This is because the girl has 2 X chromosomes if a dominant allele of this condition is passed down to even 1 of the 4 alleles possible the girl will get the disease. For boys they only have 1 X chromosome, so they only have 2 alleles possible for the condition to make at least one dominant. ======

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2. This second one is less common than the other way, but it still happens. Sometimes this condition has an X-Linked ** recessive **disease. Like the first way of inheritance that I explained, this condition is located on the X chromosome. For males, it is more likely for the males to inherit this condition this way than females. This is because it is because since there are only 2 alleles that have to be recessive, but for girls all 4 have to recessive. ======

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3. Out of all of the ways this is the least common. It only happens to few families. It can be either of the 2 ways above, except it has to come from both parents. Since this is the case only girls can get the condition by inheriting it this way because it has to come from both parents and the dad can’t give it to the son. Also, the parents can’t have symptoms of this condition. Neither of the parents can have bowed legs or any other symptoms. Although they don’t show symptoms of this condition they might show symptoms of hypercalcuria or experience kidney stones. ======

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This disease is diagnosed by the test of amount of phosphorous, calcium, vitamin D, and PTH in the blood. If phosphorous is low and everything else is normal you have the disease. If you have phosphorous low and some of the other things out of normality, it is another disease. ======

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For now no this disease is not curable. There are some things though that can help the disease looking so bad. Phosphorous makes the Vitamin D to be active in the deposit of calcium in the bones, but since this does not happen in this disease, the victim needs to take a special vitamin D that is active to put the calcium on the bones. Regular vitamin D is not enough. The victim can also take a lot of phosphorous to balance the phosphorous wasted. But this is not a cure, it just helps the situation. ======