Lucas Shared "renal week 1" - 6 Picmonics
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renal week 1
- 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
- Pathophysiology
- Defect in alpha ketoacid dehydrogenase
- Blocked degradation of branched chain amino acids
- Leucine
- Isoleucine
- Valine
- Signs and Symptoms
- Seizures
- Intellectual Disability
- 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
- 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
- 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
- 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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