Building Blocks of Life Clinical Case Presentation #

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Clinical Case Presentation4Glucose 6 Phosphate
Dehydrogenase Deficiency

• Building Blocks of Life

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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)

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Test at the end of this presentation! So pay
ATTENTION!
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Clinical presentation
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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

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• Social History (SH)
• ETOH socially, denies recreational use of any
  non-prescription 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.

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• 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

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Diagnosis and Risk AssessmentAre there any
contributing factors as per the medical history?

• Medications
• Family history
• Recent travel
• Immunizations
• Fatigue
• Dark urine
• Yellow sclera

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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

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The Hexose Monophosphate Shunt
Pathogenesis of G6PD Deficiency
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Hexokinase
GLUCOSE 6 Phosphate
GLUCOSE
ATP
NADPH
G6PD

ADP
NADPH
Glutathione reductase
6 phosphogluconate
GSSG
GSH
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Diagnosis of G6PDDeficiency

• G6PD assay
• Urinalysis
• Genetic test
• Family history
• Laboratory values Hct/Hgb
• Dietary history

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Differential Diagnosis

• Bone marrow infiltration from lymphoma, carcinoma
• Severe infection
• Drug toxicity
• Iron deficiency anemia
• Autoimmune disease

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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

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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?

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Thank You