g6pd

GENERAL  MEDICINE  E-LOG BOOK 

Roll no:  43 

DEMOGRAPHIC DETAILS:

A 42year old female patient,came  with MULTIPLE HEALTH EVENTS SINCE BIRTH

The patient.. falls frequently to the left. Her left foot and hand started to worsen. She has poor stress response Rashes on face around 2 to 4 episodes per year . Developed swelling, hair loss and fatigue. She has left jaw pain radiating to the face. She has dyspnea, oliguria .develops swelling when ingesting most of the foods, or smoke.Finds herself to be slim morning and appears to be a pregnant in the noon.  Develops weakness on exertion. Craves for salt and fats. Ingests 2-4 tbs of salt when she feels sick. 

Past history

As an infant- jaundice at birth,tongue tie and upper lip tie, has less sleep around 2 or 4 hrs a day ,  vomits food taken apart from water, developed generalised edema

2 year old- Developed severe headaches

3year old- excess hair growth on face, neck, toes and legs ,sleep duration continued to be the same, ate nothing almost. 

Childhood - developed chronic uti, kidney infections and lung infections but due to vaccination she wasn't admitted in the hospital on X-ray she was found to have scoliosis , She had multiple ankle and knee ,sprains, developed streptococcal throat infection attempted suicide at around age 15 . 

Adolescent : developed Potential sensory disorder (high pain tolerance), mood disorders, frequent temper tantrums. Frequent migraines which are still present Now. 

Adult- she was found to have mild hemolysis,  stuttering and loss of memory, loss of functioning on left side,  Aura,  migraines frequency and intensity has increased. 

Past surgical history :failed LASIK, ectopic pregnancy. 

Age of menarche

 Age of menarche was 14

Severe abdominal  pain and headaches around the time of menses and heavy bleeding 

Marital history - married at age 18 

Obstetrics history :

Found to have ectopic pregnancy for which she underwent surgery but complains of waking up in the middle of surgery. 

Gynaecological history - 

She had multiple ovarian cysts found on scanning

She has taken cimetidine for swelling ,NAC to increase glutathione antioxidants. 

And iron folate. She used triptamines for headache. L-serine to improve her sleep deficit. Ribose has helped performing daily activities even better. 

Drug historysulfa drugs( antimalarials)

Family history

 mother has a history of fibromyalgia, father had heart attack And grand father had an early death .

Personal history :

Diet-5%carbohydratesand 95%others.

Appetite -  lack of appetite since birth. She would be forcefully fed via nasogastric tube. 

Sleep-deprived since birth but improved after taking l-serine

Bowel and bladder movements - oliguria, dark or yellow color urine being urinated and sometimes increased, sometimes decreased.

On examination - her vitals are found to be normal but her bp is raised after consumption of fava beans. 

She's found to have generalised edema. 

Genetics

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

Increased risk for Alzheimers, ADHD, Autoimmune thyroid & other autoimmune disorders, lung cancer, cluster headache, Obesity, raised ICP, Diabetes, RA, Bipolar disorders, Lung cancer and issues,
INVESTIGATIONS:

Heart Rate from a recent normal day 83 beats per minute.

EEG REPORT : 


On 1st day L-Serine
Edema changes within a week

1 week apart

1 Day apart 

Infant (frontal bossing showing high ICP?)



MRI CT SPINE:
Fracture (Broke other ankle again last June after falling. Was put in walking boot.)
Rashes on Face (Usually 2-4 times a year. Past 6 months have not had one.) 


How you know its EBV in your case?getting labs no EBV active.

Various Lab. records from last year

 

Patients current problems ( priority wise)

1 migrane

2 odema of face and neck

3 SOB

4 Weakness fatigue muscle pain

5 dark urine after exercise 

6 inadequate sleep

7 dysmenorrhea cognitive impairment 

Cause of mentioned problems 

1 loss of salt through urine associated  with palpitations

2 hemolysis and loss of salt through urine

3 consumption of food rich in glucose cause lactic acidosis ans palpitations 

4 g6pd decrease nadph production leading to accumlation of adenosine in muscle -free 

radicals 

5 due to excess hemolysis of blodd during exercise  dexreased nadph and atp

6 glycolysis impared loe nadph glycine may effect bad sleep

7 pcod ,Mthfr mutations .

Diagnosis and therapeutic plan

1 triptans

2 cimeridine ,avoidance of triggers

3 low calorie low glycemic food

4 iron folate 

5 hydration  with salts ,ribose diet

6 L serine and cimetidine 

7 analgesics metformin

ADVICE - advanced diagnostcs like whole genome sequencing  is done.