Pathology (all categories) Flashcards
Type 1 Renal Tubular Acidosis (defect and findings)
Distal. pH > 5.5
Defect in ability of alpha intercalated cells to secrete H+. (new HCO3- is not generated).
Associated with hypokalemia. Inc risk for calcium phosphate kidney stones (due to inc urine pH and inc bone turnover)
Type 2 Renal Tubular Acidosis (defect and findings)
Proximal. pH < 5.5
Defect in proximal tubule HCO3- reabsorption results in inc excretion of HCO3- in urine. Metabolic acidosis. Urine is acidified by alpha intercalated cells in collecting tubule.
Hypokalemia. Inc risk for hypophosphatemic rickets (impaired bicarb reabsorption)
Type 1 Renal Tubular Acidosis (causes)
Causes: amphotericin B toxicity, multiple myeloma
Type 2 Renal Tubular Acidosis (causes)
Fanconi syndrome; chemicals (lead; aminoglycosides), carbonic anhydrase inhibitors
Type 4 Renal Tubular Acidosis (cause and findings)
*Hyperkalemia
pH < 5.5
Hypoaldosteronism, aldosterone resistance or K+ sparing diuretics. Impairs ammoniagenesis in the proximal tubule.
Renal Tubular Defects (mnemonic)
The kidneys put out FABulous Glittering Liquid: FAnconi syndrome (PCT) Bartter syndrome (thick ascending loop of Henle) Gitelman syndrome (DCT) Liddle syndrome (collecting tubule) all are "reabsorptive defects"
Fanconi Syndrome
Reabsorptive defect PCT
inc excretion of amino acids, glycose, bicarb, and phosphate
–> metabolic acidosis (only one)
causes: hereditary defects (wilson disease), ischemia
Bartter Syndrome
Reabsorptive defect TAL
Affects Na/K/2Cl transporter
–> hypokalemia and metabolic alkalosis WITH hypercalciuria (chloride build up = loss of driving force for reabsorption)
Gitelman Syndrome
Reabsorptive defect of NaCl in DCT
Hypokalemia and metabolic alkalosis WITHOUT hypercalciuria. b/c here Ca2+ depends on Vit D channels
Liddle Syndrome
INCREASED Na+ reabsorption in distal and collecting tubules.
Result: hypertension, hypokalemia, metabolic alkalosis.
Dec aldosterone.
Treatment: Amiloride (block Na+ channels)
Treacher Collins Syndrome
Failure of 1st-arch neural crest to migrate. Mandibular hypoplasia and facial abnormalities
Congenital Pharyngo-cutaneous Fistula
Persistence of cleft AND pouch –> fistula between tonsillar area and lateral neck
Branchial cleft cyst
Persistent cervical sinus: clefts 2-4 should have obliterated by proliferation of 2nd arch mesenchyme
Does NOT move with swallowing (unlike a thyroglossal duct cyst)
4th Branchial Arch (nerve, muscle, cartilage, and blood)
Nerve: CN X: Superior Laryngeal Branch
Muscle: pharyngeal constrictors. Cricothyroid
Cartilage: Thyroid and Cricocoid
Blood: Aortic Arch and Right Subclavian
6th Branchial Arch (nerve, muscle and blood)
Nerve: CN X: Recurrent laryngeal branch
Muscle: intrinsic muscles of larynx EXCEPT cricothyroid
Blood: Pulm Artery and Ductus Arteriosus
3rd Pouch
Dorsal wings: Inferior Parathyroid
Ventral wings: Thymus (ThImus)
4th Pouch
Superior parathyroid
Surface Ectoderm
Adenohypophysis; lens of eye; oral cavity; epidermis; anal canal below pectinate line; parotid, sweat and mammary glands
Neuroectoderm
CNS: Brain, retina, and optic nerve; spinal cord