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Showing posts from May, 2020

42 year old women with multiple health events

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I have given this case to solve and understand about " Patient clinical analysis " With given history and provided clinical investigations.  Clinical problems in patient: Migraine Kidney dysfunction - oligouria Swelling Sleep disturbances Left hand numbness Poor vision Broken leg Autism Intolerance to some kind of food Reasons for problems: From given data it could be from G 6 PD deficiency and AMPD 1 deficiency Sleep deprivation is due reduce synthesis of amino acids like adenosine defiency which is inhibitory to brain.  Kidney dysfunction is due to decrease in atp synthesis which also explains increase in intake of salt Swelling is due to g6pd defiency Others symtoms are due to genetic abnormalties like: Seattle type G6PD deficiency AMPD1 - AMPD1 deficiency heterozygous MTHFR - homozygous for C677T of MTHFR = 10-20% efficiency in processing folic acid = high homocysteine, low B12 and folate levels WNK1 mutation HLA-DRA - 3x higher risk for developing a peanut allergy In pop