Building Blocks
of Life
Clinical Case Presentation
#4
Glucose 6 Phosphate
Dehydrogenase Deficiency
Template for a Clinical
Case Presentation
•Chief Complaint (CC)
•History of Chief Complaint (HCC)
•Medications (Meds)
•Social History (SH)
•Family History (FH)
•Dental History (DH)
•Past Medical History (PMH)
•Review of Systems (ROS)
•Diagnosis -Risk Assessment (DRA)
•Differential Diagnosis (DDx)
•Treatment (Tx)
•Prognosis (PR)
Test at the end of this
presentation!
So pay ATTENTION!
Clinical presentation
Patient
• 48 year old male who recently planned a trip to India
• Chief Complaint (CC)
• Weakness, fatigue and dark urine
• History of Chief Complaint (HCC)
• One month
• Medications
• Primaquine, aspirin
• Social History (SH)
• ETOH socially, denies recreational use of any nonprescription meds.
• Family History (FH)
• Uncle who c/o “bleeding problem” during WWII in the
Pacific campaign
•Dental History (DH)
•Excellent oral hygiene. Last check up 2months ago.
•Medical History (MH)
• No significant medical history, with the exception of a
tonsillectomy at age 6.
• Review of Systems (ROS)
• Cardiovascular – Blood Pressure, 120/80 , Pulse 96
irregular.
• Respiratory – Rate 18/min. SOB
• Nervous – Dizziness
• Endocrine – WNL
• Renal – dark, cloudy urine
• Gastrointestinal – occasional dyspepsia
• Skin and mucosa – Color and texture of skin slightly
jaundiced
• Osteoarticular – WNL
•Eyes- yellow sclera
Diagnosis and Risk Assessment
Are there any contributing factors as
per the medical history?
1.
2.
3.
4.
5.
6.
7.
Medications
Family history
Recent travel
Immunizations
Fatigue
Dark urine
Yellow sclera
Dietary Questionnaire
What if any foods would contribute to
this?
•Eats spicy foods, on occasion.
•Drinks wine
•Eats red meat and chicken 3/wk
•Vegetables, fava beans
.
Pathogenesis
of G6PD Deficiency
The Hexose Monophosphate
Shunt
Hexokinase
GLUCOSE 6 Phosphate
GLUCOSE
NADPH+
ATP
ADP
G6PD
NADPH
Glutathione
reductase
GSSG
6 phosphogluconate
GSH
Diagnosis of G6PD
Deficiency
•
•
•
•
•
•
G6PD assay
Urinalysis
Genetic test
Family history
Laboratory values Hct/Hgb
Dietary history
Differential Diagnosis
• Bone marrow infiltration from
lymphoma, carcinoma
• Severe infection
• Drug toxicity
• Iron deficiency anemia
• Autoimmune disease
Treatment and Prognosis
Etiologic and symptomatic treatment
• No specific treatment is needed, condition is
usually self limiting
• Symptomatic treatment
•Rarely blood transfusions are indicated
•Adequate urine output should be insured
Prognosis
•Severe cases may be life threatening
•Avoid causative agents
Answer the following
• What is foods or medications should patients
avoid?
• What test(s) are used to diagnose G6PDD?
• What treatment can be instituted?
• What are the differential diagnoses of G6PDD?
• What chromosome is associated with G6PDD?
Thank You