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BIochecm 2
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
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
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
1 min
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
1 min
Krabbe Disease
Pathophysiology
Autosomal Recessive
Galactocerebrosidase Deficiency
Increased Psychosine
Signs and Symptoms
Developmental Delay
Peripheral Neuropathy
Optic Atrophy
Diagnosis
Globoid Cells
1 min
Metachromatic Leukodystrophy
Pathophysiology
Autosomal Recessive
Arylsulfatase A Deficiency
Increased Cerebroside Sulfate
Signs and Symptoms
Demyelination
Ataxia
Dementia
1 min
Addison's Disease
Mechanism
Chronic 1° Adrenal Insufficiency
Atrophy
Destruction
Symptoms
Deficiency In Cortisol And Aldosterone
Skin Hyperpigmentation
Increased POMC
Hypotension
Hyperkalemia
Acidosis
Addisonian Crisis
Diagnosis
ACTH (Cosyntropin) Stimulation Test
Treatment
Exogenous Cortisol
2 mins
Cushing's Syndrome Characteristics
More Common in Women
Exogenous Etiologies
Glucocorticoids
Endogenous Etiologies
Decreased ACTH
Primary Adrenal Disease
Increased ACTH
Pituitary Adenoma (Cushing's Disease)
Paraneoplastic: Small Cell Carcinoma
CRF-releasing Tumors
2 mins
Cushing's Syndrome Symptoms And Diagnosis
Symptoms/Findings
Osteoporosis
Amenorrhea
Truncal Obesity
Skin Changes
Buffalo Hump
Immune Suppression
Moon Facies
Hypertension
Decreased Insulin Sensitivity
Diagnosis
24-hour urine free Cortisol
Dexamethasone Suppression Test
2 mins
Diabetic Ketoacidosis (DKA) Signs and Symptoms
Kussmaul respirations
Dehydration
Abdominal Pain
Nausea/vomiting
Psychosis
Fruity breath Odor
1 min
Atorvastatin (Lipitor)
Characteristics
-statin Suffix
Mechanism
HMG-CoA Reductase Inhibitors
Indications
High Cholesterol
Side Effects
Hepatotoxicity
Rash
Rhabdomyolysis
Myopathy
Considerations
Monitor Liver Enzymes
Administer at Bedtime
Avoid Grapefruit
2 mins
Ezetimibe
Indications
Hyperlipidemia
Mechanism of Action
Cholesterol Absorption Blocker
Decreases LDL
Side Effects
Diarrhea
Increased LFT Values
1 min
Statins
Rhabdomyolysis
Hepatotoxicity
HMG-CoA reductase inhibitors
Decrease LDL
Decrease Triglycerides
Increase HDL
2 mins
Bile Acid Resins
Indications
Hyperlipidemia
Mechanism of Action
Bile Acid Reabsorption Prevented
Slight Increase HDL/Triglycerides
Decrease LDL
Drugs
Colestipol (Colestid)
Cholestyramine
Colesevelam
Side Effects
Cholesterol Gallstones
Decreased Absorption of Fat-soluble Vitamins
Patients Hate It
2 mins
Acute Pancreatitis Causes
"GET SMASHHED" Mnemonic
Gallstones
(Ethanol) Alcohol
Trauma
Steroids
Mumps
Autoimmune
Scorpion Sting
Hypercalcemia
Hypertriglyceridemia > 1000
ERCP
Drugs
1 min
Acute Pancreatitis Assessment
Mechanism
Heavy Alcohol Use and Gallstones
Signs and Symptoms
Abdominal Pain
Nausea/Vomiting/Anorexia
Abdominal Rigidity/Guarding
Decreased or Absent Bowel Sounds
Hypotension and Tachycardia
Jaundice
Increased White Blood Cells
2 mins
Hartnup Disease
Pathophysiology
Autosomal Recessive
Neutral amino acids
Defective Transporter
Renal and Intestinal cells
Signs and Symptoms
Causes tryptophan excretion in urine
Leads to Pellagra
Diarrhea
Dermatitis
Dementia
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
3 mins
Ornithine Transcarbamylase Deficiency
Pathophysiology
Most Common Urea Cycle Disorder
X-Linked Recessive
Signs and Symptoms
Hyperammonemia
Decreased BUN
Carbamoyl Phosphate is Converted to Orotic Acid
Pyrimidine Synthesis Pathway
Evident in Babies
3 mins
Hyperammonemia
Pathophysiology
Hereditary Urea Cycle Defects
Acquired Through Liver Disease
Inhibits the Citric Acid Cycle
Signs & Symptoms
Somnolence
Slurring of Speech
Tremor
Cerebral Edema
Vomiting
Blurring of Vision
Treatment
Limit Protein in Diet
Lactulose
Benzoate Binds Amino Acid for Excretion
Phenylbutyrate
4 mins
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