A case of 42 year old female with multiple health events since birth
Presented by:Sneha Kalyankar(154)
8th semester
Following is my analysis of this patients problems
You can find the entire real patient clinical problem in this link below
Problems are
1.swelling of face and abdomen
2.sleep disturbances
3.oliguria
4.rashes
5.headaches(migraine with aura)
6.fatigue
1.Swelling of face and abdomen:she was diagnosed as G6PD deficiency which causes hemolytic anemia ie hemolysis of RBC may cause right heart failure which may be cause of SOB and swelling.
Swelling of face may be caused due to renal failure .This deficiency causes decreased generation of NADPH and ATP which causes oxidative stress.t
These patients may have neonatal jaundice.Hiatus hernia may cause SOB.
Aggravating factors:fava beans,antimalaria drugs.
INVESTIGATIONS DONE-
1.LFT-AST,ALT levels increased
2 ECG-left atrial enlargement,right heart enlargement
3.Echocardiography
4.Recommended:LDHlevels,serumhaptoglobulin levels,peripheral blood smear.
TREATMENT:given cimetidine,ribose,
Recommended-blood transfusion,Oxygen therapy.
OLIGURIA:due to G6PD deficiency there is oxidative stress causing kidney damage (reduced production of NADPH &ATP may lead to loss of ions and decreased urine production ).it may be due to WNK1 gene mutation,kidney infections.
INVESTIGATIONS:CUE,USG
RASHES:she was diagnosed as behcets syndrome which is an autoimmune disorder which causes vasculitis ,rashes ,blurred vision .
INVESTIGATIONS :Parthergy test,OCT,skin prick.
Headache:migraine with aura is associated with left sided numbness,left sided spinning movement,memory loss,vision loss.
Differential diagnosis:
Meningitis,encephalitis.
Brain tumors
Vestibular disorders
Cerebellar disorders
Stroke.
INVESTIGATIONS :EEG,MRI,CT,CSF analaysis.
TREATMENT:given -triptamines
Recommended- stay in dark room, avoid stress.
Drugs which triggers the condition and triptans ,acetamionphen,ergots.
Fatigue:due to G6PD deficiency causes decreased production of ATP .so there is fatigue .
Aggravated on exertion and stress.
Treatment :ribose which generates ATP.
Other problems:PCOD,Fractures,loss of hair,excessive growth of hair on body ,osteoarthritis anhygrosis (due to WNK1 gene mutation).OLIGURIA:due to G6PD deficiency there is oxidative stress causing kidney damage (reduced production of NADPH &ATP may lead to loss of ions and decreased urine production ).it may be due to WNK1 gene mutation,kidney infections.
INVESTIGATIONS:CUE,USG
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