Ponatinib is a second generation tyrosine kinase inhibitor while as rest all are first generation. Omacetaxine is an inject-able agent against protein synthesis. Ponatinib and Omacetaxine are also effective against the tough acquired mutation called T315I.
As I read about the progress being made I am reminded of a case which i had encountered few years back.
A 15 year old boy in Jan 2005 presented with weakness, etc.
Feb 2005 Hb-12.5 gm%, WBC 52,000. ( No comment on blast cells etc.)
Serum Creatinine 2.1. He was evaluated by physicians and nephrologist.
He was diagnosed to have Ig A Nephropathy with Chronic renal insufficiency.
Biopsy report reads -Mesangioproliferative glomerulonephritis.
For one year he was managed as Nephrotic patient only.
March 2006 He was suspected for CML and investigated for same. He visited Tata Memorial hospital and was found to have Philadelphia chromosome positive. He was started on Imatinib. As he had his renal derangement also , he was often had to move between KEM hospital Mumbai and Tata Memorial Hospital.
The patient was on Imatinib till August 2007, along with dialysis, thrice weekly. In July/August 2007 he started developing resistance to Imatinib.
The resistance to Imatinib was proven by mutation studies. E 4536 mutation.
He was offered Dastanib for 2 months. The support for Dastanib could not be extended because of financial constraints. He was a beneficiary of Railways.
The nephrologist state that it is Chronic Renal disease stage V at present.
He tested positive for anti-Hbsag antibodies in June 2006.
He was on Hydroxyurea with stable disease and was undergoing dialysis when I had written this summary in June 2008.
I happened to meet his father while on a journey. Decided to facilitate the best I could. They were reluctant to go to Tata Hospital again.
I discussed the case with Dr.Lalit from AIIMS at a conference in 2008. He suggested that both Bone Marrow Transplant and Kidney transplant can be done for this boy at a single setting. Encouraged by this I gave some hope to the boy's father. He was willing to do anything and go any where to get his son cured.
They also got HLA test done and the report was sent to HLA scientist at AIIMS. I copy the reply below
"Prof Lalit Kr from Medical Oncology requested me to reply to you regarding HLA reports of your patient Mr X.
As per the HLA reports the sister seems to be a match and can be considered as a donor for BMT and the mother for the renal transplant.
In this case it seems the testing has been done by serology and we have only one HLA-A antigen identified for both patient and his sister ( HLA-A2, A-). It is possible that the second antigen is also HLA-A2 ( i.e. A2 inherited from both mother and father ) but unless the father's report is available and that shows presence of HLA-A2 we would not be sure that the children have inherited HLA-A2 from both parents. Its also possible that the second HLA-A antigen is something else and not A2.
Alternatively, if the test is done by molecular technique, and that too shows the same results as serolgy test, we would be sure.
For all transplants patients at AIIMS, initial screening of family is done by serology to pick a potential donor. However, as a policy we normally confirm the matching status by a molecular test before the patient undergoes BMT.
I do hope the above information is helpful.
Once the molecular tests are done, I will be happy to review the reports again if you feel the need."
We sent the blood to Delhi and also the boy traveled to AIIMS.
The next reply was,
"We have tested the patient and his donor for HLA class I genes and we shall proceed with the Class II gene testing tomorrow.
I just need to find out if the patients father has been tested or not. As was mentioned in previous reports, we also notice only one HLA-A allele in both patient and donor. The purpose of testing again was to check what are the HLA genes inherited from father. We are presuming on the basis of previous and current reports that itis HLA-A2 but having fathers' reports will be very helpful.
As soon as we have completed the tests we shall send the reports and receipts. In the meantime if the father is not tested, can we suggest that he be tested and report sent to us."
The next reply
"X's test was done and reports were complete by last week of may. Yesterday we have received the reports of X's father and we are now very sure of the HLA tests done for X and his sister . They are a perfect match and the BMT can be planned for the patient.
Unfortunately I do not know the end of the story. The boy did not undergo the transplant at AIIMS for various reasons. He was taking his treatment at St.Johns Hopsital, Bangalore when I knew last.
Very eager to know how he is doing now.
Lessons for me:
1. Should have followed up with the father. I felt guilty of not being able to do much for him and stopped communication. The father also had got tired of me !
2. The need for well planned research in India. Information about the same made available to all doctors.
3. Unique cases need extra perseverance and innovative action plan. In routine practice when clinicians are overburdened they triage their time and effort towards curable and simple cases. Need for special units to take care of complex cases.
4.Making care affordable and available.
Learning never ends........
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