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Lucas Shared "renal week 1" - 6 Picmonics

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renal week 1

Homocystinuria
Pathophysiology
Autosomal Recessive
4 Forms
Cystathionine Synthase Deficiency
Decreased Affinity of Cystathionine Synthase For Vitamin B6
Methionine Synthase Deficiency
Methylenetetrahydrofolate Reductase (MTHFR) Deficiency
Signs and Symptoms
Marfanoid Body Habitus
Kyphosis
Lens Subluxation (Inferior)
Intellectual Disability
Atherosclerosis
Consideration
Dietary Deficiencies Can Elevate Homocysteine Levels
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3 mins
Maple Syrup Urine Disease
Pathophysiology
Defect in alpha ketoacid dehydrogenase
Blocked degradation of branched chain amino acids
Leucine
Isoleucine
Valine
Signs and Symptoms
Seizures
Intellectual Disability
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1 min
Vitamin B12 (Cobalamin) Mechanism and Deficiency
Mechanism
Cobalamin
Large reserve pool in the liver
Homocysteine to methionine
Methylmalonyl CoA to succinyl CoA
Deficiency Signs and Symptoms
Macrocytic Megaloblastic Anemia
Hypersegmented Neutrophils
Neurologic defects
Posterior column
Lateral corticospinal tract
Spinocerebellar tract
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5 mins
Blood Acid-Base Control
Characteristics
In a State of Acidemia
Medullary Chemoreceptors Control Ventilation Rate
Expulsion of CO2 through Lungs Increases pH
Bicarbonate Reabsorption from the Kidney Increases pH
Kidney Excretion of H+ Increases pH
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2 mins
Phenylketonuria (PKU)
Pathophysiology
Decreased Phenylalanine Hydroxylase
Decreased Tetrahydrobiopterin Cofactor
Autosomal Recessive
Tyrosine Becomes Essential
Phenylalanine Found in Nutrasweet
Symptoms
Musty or Mousy Body Odor
Growth Retardation
Seizures
Intellectual Disability
Hypopigmentation
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2 mins
Fanconi Syndrome Causes
Hereditary Causes
Cystinosis
Dent's Disease
Wilson's Disease
Oculocerebrorenal (Lowe) Syndrome
Galactosemia
Hereditary Fructose Intolerance
Glycogen Storage Diseases
Tyrosinemia
Acquired and Medication Causes
Tenofovir
Heavy Metals
Expired Tetracyclines
Cisplatin
Gentamycin (Aminoglycosides)
Valproate Sodium
Multiple Myeloma
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2 mins

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