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G6PD Deficiency
- X- linked recessive
- More commonly found in
- Males
- African Americans
- Asians
- Patients of Mediterranean or Middle Eastern decent
- Increases RBC susceptibility to breakdown
- Specific triggers lead to cellular breakdown
- Bacterial or viral infection
- Fava beans which may be found in flour
- Drugs
- Aspirin
- Antimalarials
- Sulfonamides
- Methylene blue
- Diabetic ketoacidosis
- Specific triggers lead to cellular breakdown
Clinical Presentation & Physical Exam Findings
- Jaundice
- Dark urine
- Fatigue
Labs and Studies
- CBC
- Anemia
- Elevated retic count
- Peripheral blood smear
- [[Bite Cells]]
- [[Heinz Bodies]]
- G6PD assay
Treatment
- Prevention – Avoid triggers
- Supportive care
- Blood transfusion
Paget Disease of the Bone
- A chronic condition that involves accelerated bone turnover with disorganized remodeling
- There is a gradual onset typically affecting adults over age 40
- Most commonly affects the pelvis, femur and skull
Clinical Presentation & Physical Exam Findings
- Pathologic fractures from weakened bones
- Bone pain
- Stiffness
- Fatigue
- Arthritis
- Enlarged bones
Labs and Studies
- X-ray – Paget’s has a distinct appearance
- Blood tests
- Alkaline phosphatase – elevated
- Calcium – usually normal
- Phosphate
- Bone scan
- Bone biopsy
Treatment
- Supportive care
- Bisphosphonates
Phenylketonuria
- Autosomal recessive trait
- Patients produce a low level of the enzyme that breaks down phenylalanine which can lead to toxic levels of this amino acid.
- Infants have no symptoms initially because the mother is able to break down phenylalanine
- Phenylalanine serum levels are part of newborn screening
Clinical Presentation & Physical Exam Findings
- Hypopigmentation
- Seizures
- Hyperactivity
- Progressive mental impairment leading to missed developmental milestones
- Learning disabilities
- [[Mousy odor]] in urine and sweat
Labs and Studies
- Serum phenylalanine levels taken by heel stick as part of newborn screening
Treatment
- Diet low in phenylalanine
Rickets
- A disease resulting in softening and weakening of the bones
- Typically caused by a vitamin D deficiency
Risk Factors/Causes
- Diet lacking in Vitamin D, calcium or phosphorus
- Low sun exposure
- Dark skin
- Celiac disease
Clinical Presentation & Physical Exam Findings
- Bone tenderness
- Pathologic fractures
- Bowed legs
- Skeletal survey – a complete set of x-rays
Labs and Studies
- Serum calcium – usually low
- Serum phosphorus – usually low
- Vitamin D – low
Treatment
- Sun exposure
- Diet and Supplementation
- Increase dietary intake of Vitamin D and calcium
- Supplement Vitamin D and Calcium
- Fava beans are associated with what diagnosis?
- G6PD deficiency
- What clues for G6PD deficiency might you see on a peripheral blood smear?
- Heinze bodies
- Bite Cells
- Paget’s disease of the bone typically affects adults over what age?
- Older than 40
- A mousy odor should make you think of what diagnosis?
- Phenylketonuria
- At what age is the screening for phenylketonuria performed?
- 2-7 days after birth
- Describe the picture of rickets?
- Low Vitamin D –> Poor bone production –> Soft bones
