42 year old women with multiple health events
I have given this case to solve and understand about " Patient clinical analysis " With given history and provided clinical investigations.
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 populations of European ancestry
VWF - association with Von Willebrand disease type 1
DIO2 - 1.3-1.79x risk of osteoarthritis, 3.75x bipolar, etc.
CHRNA5 - higher risk for nicotine dependence, lower risk for cocaine dependence
ANKK1 - Tardive Diskinesia risk, higher ADHD risk. More Alcohol Dependence. Lower risk of Postoperative Nausea. Increased obesity.
TG - 1.3x to 11.5x Increased risk of autoimmune thyroid disease
LOXL1 LOXL1-AS1 - common but 10x higher glaucoma risk in most (but not all) populations
PNPLA3 - increased liver fat, odds of alcoholic liver disease
BACE1 - 2x increased ALZ risk in ApoE4 carriers
BSN - 1.1x risk Crohn's Disease
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
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 populations of European ancestry
VWF - association with Von Willebrand disease type 1
DIO2 - 1.3-1.79x risk of osteoarthritis, 3.75x bipolar, etc.
CHRNA5 - higher risk for nicotine dependence, lower risk for cocaine dependence
ANKK1 - Tardive Diskinesia risk, higher ADHD risk. More Alcohol Dependence. Lower risk of Postoperative Nausea. Increased obesity.
TG - 1.3x to 11.5x Increased risk of autoimmune thyroid disease
LOXL1 LOXL1-AS1 - common but 10x higher glaucoma risk in most (but not all) populations
PNPLA3 - increased liver fat, odds of alcoholic liver disease
BACE1 - 2x increased ALZ risk in ApoE4 carriers
BSN - 1.1x risk Crohn's Disease
Investigations:
Complete blood picture
Complete urine analysis
Cortisol levels
Ecg
MRl
X ray
pharmocoloygical treatment:given
Ribose
L - serene
Cimetidene
Tryptophan
Iron supplement
Non pharmacological treatment:
Avoid food which are intolerant
Avoid drugs which are intolerant
Avoid stress and heavy exercise
Differential diagnosis include:
Familial hemiplegic migraine
Multiple sclerosis
A beta lipoproteinemia
Futhure each symptom should be treated differently with specific drugs
And treatment for Behcets disease should also done
And other investigations specific should be done at genetic level for confirmation and treated.
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