Birth defects .... Metabolic diseases .. Kidney 1

Birth defects .... Metabolic diseases .. Kidney 1





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Birth defects .... Metabolic diseases .. Kidney 1
Posted in 2013

Metabolic diseases are those diseases where there is a chemical problem in certain or all cells
of the body.  Most commonly they happen when an enzyme (protein that breaks down a specific
chemical) is missing.  That can result in the accumulation of that substance in cells, causing all
sorts of problems.    In some types of metabolic disease a substance accumulates in cells for

unknown reasons.   In others, an important cellular biochemical process is abnormal.
Cystinosis is a rare disease where cysteine, an amino acid (amino acids are the building blocks of
proteins) accumulates in the cells of the body and causes lots of problems, including kidney failure. 
These children clearly are ill as infants, since they grow poorly, are easily and frequently dehydrated,
and develop rickets.   The problem with the kidneys early in life is that they leak multiple substances
(potassium, bicarbonate, sodium, phosphorus, glucose and amino acids) from the blood into the
urine that should stay in the blood.  Some of these substances have to be given back as medication:
potassium, bicarbonate, sodium, and phosphorus.   The kidney also fails to activate vitamin D, so 
the active form of vitamin D (calcitriol or dihydrotachysterol) must also be given as a medication.
As time goes on they develop kidney failure, and generally need kidney transplantation sometime 
in childhood.


My advise
1...  I have seen some birth defects due to chemical problems in cells
2...  Parents whose profession involved in chemical industry may have this problem
3...  If you are working in chemical industry you should eat fresh vegetables and fruits so that you can have Healthy child

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