Hypophosphatasia - diagnosed by Dr.Keiichi Ozono (Osaka Medical Center and Research Institute for Maternal and Child Health)

(Mr.Ozono came all the way to see our son from OSAKA before he start his new post at Osaka University)

Dr.Ozono examined my son in the infant incubator by touching and also through a stethoscope.

Dr.Ozono's comments; 

•  He concluded that my son's disease is hypophosphatasia. The basis of his diagnosis is 'Low ALP lavel' and ' impaired bone minelalization and deposit'. These two main symptoms of hypophosphatasia are obvious to my son.
•  This disease is caused by autosomal recessive inheritance. The both of ALP genes in my son are recessive. Dr.Ozono will see if my son inherited from his parents or his disease is result of a mutation.
•  My son's ALP level is getting lower than that which he had when he was born. Dr.Ozono thinks ALP level of '10' is too low. He usually expect that patients have ALP level of '30-50' at the lowest.
•  Dr.Ozono thinks if the ALP level is enough, bone formation will be increased by slowing bone resorption. However in my son's case, since it seems there is problem in bone deposit itself, slowing bone resorption may not help bone formation.
•  The bone structure of my son's head (right front part) is not good. He noted that the sutures are getting closed. However Dr.Ozono advised that it is not right time for my son to have a surgical operation in consideration of my son's strength and anesthesia.

About Infantile hypophosphatasia- by Mr.Ozono

•  Hypophosphatasia is a rare disease. There has been few cases in the world. The symptoms depend on each patient and the treatment will also depend on the case.
•  Normally, ALP level in bone is highest in infancy and is getting lower as one grows. However in case of patient with this disease, ALP level is low in infancy. In most cases, patients have low but stable ALP levels in infancy and the level may become close to the normal level as patients grow.
•  At early stage of this disease, symptoms of hypercalcemia and inadequate weight gain are noted. However provability of survival will be increased as patients grow. The development will be slow and behind but patients will do everything normally after a while.
•  Baby tooth will come out earlier than usual. If inconvenient, patients can use an artificial tooth till they have adult tooth.

About gene test - by Dr.Ozono

•  Dr.Ozono has done before gene testing of 18 people. My son's test will be the third test for him as an infantile case.
•  ALP type of this disease is tissue-nonspecific type. The gene test will be done by reading almost 1700 sequences in 12 exson.
•  By checking genes, the severity of disease will be assessed.
•  The test will be done by taking samples of my son's (2.5cc)and our (5cc/each) blood.
•  DNA is in white blood cells. Red blood cells and blood platelet will be removed from the obtained blood.
•  To read the genes obtained from my son and us, it will take 1-3 months normally. It is impossible to read 100 %.
•  In case it is difficult to read my son's gene, our genes will be referred.
•  Regarding ethics of individual gene, in case the aim is an analysis of one's disease, this test will not violate ethical guidelines. The minimum staff will know the names who offered samples. The samples will be discarded after the test.

Other comments by Dr.Ozono

•  My son's ability of moving his eyes and his interests in objects in view prove that his mind and nerves develop.
•  There is no case that hypophosphatasia directly affects the brain.
•  Hydrocephalus is not one of complications of hypophosphatasia.
•  The patient with this disease may sometimes sleeps with his month open and his eyelids lifted. This is because the patient has less tension of the related muscles.
•  Dr.Mornet has been studying this disease in France.
•  There are two drugs for hypercalcemia. One is calcitonin and the other is bone resorption inhibitor (Aredia) used for osteogenesis imperfecta. In case the patient's calcium level gets more than 13, those drugs may be useful.
•  White of the eye is blue. This is often noted among the children with osteogenesis imperfecta and caused by abnormal collagen.

CT and x-ray of my son

•  In addition to the bad formation of arms and legs, the spinal formation is not good.
•  There is fluid in the center of my son's brain. There is a case that fluid is accumulated around the brain and it will press the brain from outside. My son's case is not the worst case like that.

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