Diagnosis : Hypophosphatasia, Respiratory disturbance

The following report was written by my son's doctor.

The patient currently has symptoms of fever, impaired liver function and negative CRP. It seems that he suffers some virus disease. Fever also makes respiratory function worse.

Today we made a test of blood gas. Carbon dioxide level in blood (capillary) is high. 67.2mmHg (Normal level 40mmHg), HCO3 27.2mEg/L (Normal level 23-24). This shows that he seems to suffers from chronic respiratory disturbance.

In addition, because he was infected with virus, there is possibility that his respiratory condition will get worse. As one of medical treatments, there is a way to insert a tube into the trachea for artificial respiration. Concerning introduction of this treatment, careful consideration is required. Since there is possibility that the patient never live without using the artificial respirator. (Tracheotomy will be made if the patient has to use the respirator for a long time.)

We also need to think of using normal milk, some drugs such as bisphosphonates(Aredia) to slow bone resorption.

Others-The followings were not included in the report above. I summarized what the doctor explained to us.

• The X-ray of the lungs taken on 31st of January shows that the lung rehabilitation program is effective.
• When my son had a respiratory problem on February 1st, controlling his fever helped him recover from the problem. Our doctor used some ice under my son's arms to cool down his body temperature.
• There is possibility that his fever comes from normal immunologic responses. Normally babies are easy to be infected with the virus existing in nature when they turn 6 months. Even if this is a normal response, it might be life threatening for my son.
• My son has polypnea. When he has fever, his breathing cycle is about 70/min, even he is in normal condition, it is 50/min. (Normal value : about 30/min) . It seems that he tries to make up for lack of oxygen.
• Development of the breastbone is not good. However his heart is growing. He can not gain a good balance of development of the lungs, heart, breastbone. To help with development of the breastbone, we may be able to use bisphosphonates(Aredia) to slow bone resorption. Bisphosphonates is a drug used for patients with osteogenesis imperfecta. We have not got any information yet that this drug has ever been to used to the patient with infantile hypophosphatasia.
• My son has not got any mineralization in kidney. This might be because he had been drinking low calcium milk. There might be no nee to use chlorothiazide.

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