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Friday, September 30, 2016
Lab Results for a 13 month old female
My daughter`s lab results have been out of range since august of 2009.
Her BUN/Creat ratio has been 33, 66, 73, 59,and 52 respectively. (She had labs drawn on 8/16/09, 10/26/09, 11/1/09, 5/28/2010, and 7/25/2010.
Her CO2 levels have been 24, 23, 23, 22, and 21 on those dates as well respectively (decreasing as time goes on). Anion Gap levels of 13, 16, 17, 18, and 21 (increasing as time goes on)
Her calcium levels have been 10.3, 10.7, 10.3, 10.2, and 10.5 (staying consistently high or borderline high). Her Globulin has been low on every occasion and her A:G ratio has been high for all the tests.
She has had 3 UAs done that showed her Urine Ph at 8, 8, and 9. from 8/16/09, 11/1/09, and 4/27/10 respectively. There have also been some transistional epithilial cells and 3 renal epithelial cells found on 8/16. on 11/1 there were 1 wbc, 1 rbc, 1 epithilial, and 1 hyaline cast. on 4/27 they found an epithelial.
She had a CBC done on august 2009 that showed she had "a few teardrops" on the red blood cell morphology. Also on an amino acids quant drawn 10/8/09 it was found that her levels of Tyrosine were above limits (125). I am very concerned about these results in particular.
Nothing has been said to me from her doctors and when I received these results in the mail, I was shocked by how many abnormal results came back with no response from the doctor.
My daughter has failure to thrive, weight loss, GERD, and for the past 6 months has been sleeping more and more (up to 18 hours a day) and she is now 13 months old. Her speech has regressed also. She used to say simple things like mama, birdy and doggie and now she just babbles sounds together. I`m very frightened and the doctors don`t seem to be able to give me an answer. If you can, please do!
Without seeing your child, and just from going over the labs that you provide, I cannot give you a definite diagnosis. However, it is clear from your description that your daughter has a complicated disease that is likely to be hereditary, and that involves several organ systems, including her nervous system, kidneys, and probably liver. Judging from the tests that were ordered, it sounds like her doctor is thinking along the same lines -- for instance, a tyrosine level is not something that is routinely ordered unless one suspects one of these inherited diseases.
Before your daughter's condition declines any further, I would call her physician, set up an appointment, and sit down to talk about the results, what further tests are needed, and what can be done. If she is not being seen by a pediatric metabolic specialist, it sounds like she should be seen as soon as possible. Please do not feel embarrassed to ask your doctor about these results: it is your right to receive a thorough explanation of what is going on. Good luck to you, and please write back to let us know what happens.
Mildred Lam, MD
Associate Professor of Medicine
School of Medicine
Case Western Reserve University