Ryan Shared "Path 3 Final" - 45 Picmonics

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Path 3 Final

Cystic Fibrosis Mechanisms
Autosomal Recessive
CFTR chromosome 7
Cl- channel defect
Decreased chloride secretion
Increased Na and water reabsorption
Increased Na and Cl in sweat
Dehydration of mucous layers
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2 mins
Cystic Fibrosis Symptoms and Complications
Recurrent Pulmonary Infections
Chronic Bronchitis
Nasal Polyps
Pancreatic Insufficiency
Intestinal Obstruction
Malabsorption and Diarrhea
Vitamin Deficiencies
Chronic Hepatic Disease
Infertility in Males
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1 min
Cystic Fibrosis Diagnosis and Treatment
Diagnosis
Sweat chloride test > 60 mmol/L
Meconium Ileus
Treatment
N-acetylcysteine
Antibiotic Prophylaxis
Pulmonary Maintenance
Lung transplant
Vitamin Replacement
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1 min
Osteogenesis Imperfecta
Pathophysiology
Autosomal Dominant
Decreased Type I Collagen Production
Symptoms
Phenotypically Diverse
Brittle Bone Disease
Fractures from Minimal Trauma
Confused with Child Abuse
Hearing Loss
Dental Imperfections
Blue Sclera
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1 min
Vitamin D Deficiency
Signs & Symptoms
Rickets in children
Bending bones
Rachitic rosary
Breast milk has decreased vitamin D
Osteomalacia in adults
Tetany from Hypocalcemia
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1 min
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
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2 mins
Ehlers-Danlos Syndrome Disease
Pathophysiology
Faulty Collagen Synthesis
Autosomal Dominant or Recessive
Various Severities
Signs and Symptoms
Hypermobile Joints
Hyperextensible Skin
Easy Bruising/Bleeding
Berry (Saccular) Aneurysm
Considerations
Beighton Criteria
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2 mins
Tay-Sachs Disease
Pathophysiology
Autosomal Recessive
Hexosaminidase A Deficiency
Increased GM2 Ganglioside
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Neurodegeneration
Developmental Delay
Diagnosis
Onion Skin Lysosomes
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1 min
Niemann-Pick Disease
Pathophysiology
Autosomal Recessive
Sphingomyelinase Deficiency
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Hepatosplenomegaly
Neurodegeneration
Diagnosis
Foam Cells
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1 min
Gauchers Disease
Pathophysiology
Autosomal Recessive
Beta Glucocerebrosidase Deficiency
Diagnosis
Lipid-laden Macrophages
Crumpled Tissue Paper
Signs and Symptoms
Osteoporosis
Bone Crises
Aseptic Necrosis of Femur
Erlenmeyer Flask Deformity
Hepatosplenomegaly
Pancytopenia
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2 mins
Fabry's Disease
Pathophysiology
X-linked Recessive
Alpha-galactosidase A Deficiency
Increased Ceramide trihexoside
Early Signs and Symptoms
Decreased Sweating (Hypohidrosis)
Angiokeratoma
Episodic Peripheral Neuropathy
Late Signs and Symptoms
Cardiovascular Disease
Renal Failure
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1 min
Hurler Syndrome
Pathophysiology
Autosomal Recessive
Mucopolysaccharidoses
Alpha-L-Iduronidase Deficiency
Increased Heparan Sulfate
Increased Dermatan Sulfate
Signs and Symptoms
Hepatosplenomegaly
Developmental Delay
Gargoylism
Corneal Clouding
Airway Obstruction
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2 mins
Hunter Syndrome
Pathophysiology
X-linked Recessive
Mucopolysaccharidoses
Iduronate Sulfatase Deficiency
Increased Dermatan Sulfate
Increased Heparan Sulfate
Signs and Symptoms
No Corneal Clouding
Aggressive Behavior
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1 min
Krabbe Disease
Pathophysiology
Autosomal Recessive
Galactocerebrosidase Deficiency
Increased Psychosine
Signs and Symptoms
Developmental Delay
Peripheral Neuropathy
Optic Atrophy
Diagnosis
Globoid Cells
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1 min
Metachromatic Leukodystrophy
Pathophysiology
Autosomal Recessive
Arylsulfatase A Deficiency
Increased Cerebroside Sulfate
Signs and Symptoms
Demyelination
Ataxia
Dementia
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1 min
Von Gierke Disease
Pathophysiology
Autosomal Recessive
Type I Glycogen Storage Disease
Glucose-6-Phosphatase Deficiency
Signs and Symptoms
Increased Glycogen in Liver
Hepatomegaly
Enlarged Kidneys
Severe Fasting Hypoglycemia
Increased Triglycerides
Increased Uric Acid (Gout)
Increased Lactic Acid
Doll-like Facies
Treatment
Continuous Oral Glucose (or Cornstarch)
Avoid Fructose and Galactose
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2 mins
Cori Disease
Pathophysiology
Type III Glycogen Storage Disease
Deficiency of Alpha 1, 6 Glucosidase
Debranching Enzyme
Limit-Dextrin Accumulation (In Cytosolic Structures)
Signs and Symptoms
Hypoglycemia
Muscle Weakness
Hypotonia
Stunted Growth
Hepatomegaly
Diagnosis
Normal Blood Lactic Acid Levels
Gluconeogenesis Intact
Increased LFT's
Increased Creatine Kinase (CK/CPK)
Treatment
Continuous Feeding
High Protein Diet
Cornstarch (Uncooked)
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4 mins
Pompe Disease
Pathophysiology
Type II Glycogen Storage Disease
Autosomal Recessive
Deficiency of Lysosomal Alpha 1,4 Glucosidase
Acid Maltase
Signs and Symptoms
Hypertrophic Cardiomyopathy
Hepatomegaly
Macroglossia
Hypotonia
Diagnosis
Increased Glycogen within Lysosomes
Increased Lactate Dehydrogenase (LDH)
Increased Creatine Kinase (CK/CPK)
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2 mins
McArdles Disease
Pathophysiology
Type V Glycogen Storage Disease
Muscle Glycogen Phosphorylase Deficiency
Signs and Symptoms
Increased Glycogen in Muscle
Painful Muscle Cramps
Myoglobinuria
Normal Lactic Acid
Treatment
Vitamin B6
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2 mins
Cystinuria
Pathophysiology
Defect of Renal Tubular Amino Acid Transporter
C-O-L-A Acronym
Cystine
Ornithine
Lysine
Arginine
Signs and Symptoms
Excess Cystine in Urine
Hexagonal Crystals
Staghorn Kidney Stones
Diagnosis
Cyanide Nitroprusside Test
Treatment
Acetazolamide to Alkalinize the Urine
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3 mins

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