Clinical Application/Correlation Week 2 Flashcards
G6PD Deficiency Key Clinical Features
- Jaundice
- Scleral icterus
- hemoglobinuria
- back pain
- intrinsic hemolysis after stressor
- RBC with Heinz body and bite cells
G6PD deficiency epidemiology
- most common enzyme deficiency worldwide
- asymptomatic until stressor
- x-linked recessive
- men affected, women carriers
- Middle Eastern, African, Asian descent
- provides protection against uncomplicated malaria
G6PD deficiency basic science
- G6PD is the rate limiting enzyme in pentose phosphate pathway
- reduces NADP to NADPH
- key part of oxidative stress pathway in RBC
- caused by heat, meds, infections, etc
- RBC have limited repair ability once mature (no nucleus)
G6PD deficiency key history and physical
Newborns
- neonatal jaundice/kernicterus
- lethargy
- poor muscle tone
- excessive sleepiness
- siblings with jaundice <24 hours of age
- bilirubin >95%
Adults
- pallor
- jaundice
- fatigue
- splenomegaly
- dark urine
- recent medication use
G6PD deficiency treatment
Management of neonatal jaundice
- phototherapy
- exchange transfusion
children/adults
- supportive care
- withdraw trigger meds
- transfusions
Hereditary Fructose Deficiency key clinical features
infant with vomiting after intro of fructose or sucrose
hepatomegaly
lactic acidosis
failure to thrive
hereditary fructose deficiency epidemiology
autosomal recessive
presents in infancy with introduction of new sugars
Hereditary Fructose Deficiency basic science
Lack aldolose B
patients cannot break down fructose-1 phosphate → toxic buildup
→ depletes phosphorous stores and decreases glycogenolysis → liver/renal failure
Hereditary fructose deficiency key history/physical exam
- young child (3-6 months)
- failure to thrive
- abdominal pain
- nausea/vomiting
- lethargy
- hypoglycemia
- enlarged liver
hereditary fructose deficiency diagnosis
amino acid/urine studies
metabolic abnormalities suggestive of disease
- hypoglycemia
- lactic acidema
- hypophosphatemia
- hyperuricemia
- hypermagnesemia
- hyperalanemia
hereditary fructose deficiency therapy/treatment
- immediate infusion of IV dextrose
- patients com in hypoglycemic
- correct metabolic derangements during initial/subsequent episodes
- avoid fracture/sucrose/sorbitol containing foods
- multivitamin supplements
- medication/vaccination review for potential toxicity
Lactase deficiency key clinical features
adolescent with GI complaints after lactose ingestion
bloating
flatulence
diarrhea
cramps
lactase deficiency epidemiology
75% of world’s population
male = female
most common asian, african, south american
types:
- primary
- secondary
- congenital
- developmental
lactase deficiency basic science
lactase: found in brush border of intestines
missing enzyme → increase in unabsorbed lactose in lumen
osmotic diarrhea - solute pulls water into intestines
gas production - from bacterial breakdown
lactase deficiency key history/physical
abdominal pain
nausea
vomiting
flatulence
bloating
diarrhea
borborygmi: loud gut noises
