BGEN 3020 Lecture Notes - Lecture 32: Liver Transplantation, Hemodialysis, Splenomegaly
26 Oct 2018
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Sam is a 3 day old boy who was brought in to the er because of: poor feeding, lethargy. One of the things you measured was the ammonia: normal is about 50 micromols/l, sam had 120 micromols/l, you know you are dealing with a nitrogen metabolism error. Four month olf lily, presents to the er with: early morning seizure lasting 5 minutes, non-specific symptom, many causes for seizures in young children. Physical examination: a poorly nourished baby, weight < 3 percentile, length < 25 percentile, ofc 25-50 percentile, firm liver edge was palpable enlarged, there was no splenomegaly. Initial available investigations: blood glucose in the er low, capillary lactate high, gases, metabolic acidosis = body is producing something acidic in the blood, other investigations ordered, triglycerides high. Diagnosis: g6p dehydrogenase deficiency: x-linked recessive, tends to be more severe in males, treat the metabolic acidosis, transfusion, possibly splenectomy to deal with hemolysis.
