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
Neural Crest
PSN: cranial nerves; dorsal roota ganglia; melanocytes; parafollicular C cells of thyroid; bones of skull
Mesoderm
Muscle, bone, connective tissue; most organs
Heart and lymphatics. blood; kidneys;
Notochord
Induces ectoderm to form neuroectoderm (neural plate)
Only becomes nucleus pulposus of the intervertebral disc
Endoderm
Gut tube epithelium. luminal epithelial derivatives (lung, liver, gallbladder, pancreas, thymus, parathyroid)
GI, GU, Resp
Gestational HTN vs Preeclampsia vs Eclampsia
Gestational: + HTN - proteinuria - seizure
Preeclampsia: + HTN + proteinuria - seizure
Eclampsia: + HTN + proteinuria + seizure
Wolff-Chaikoff effect
excess iodine temporarily inhibits thyroid peroxidase –> dec iodine organification –> dec H3/T4 production
Conn Syndrome
Primary Hyperaldosteronism
aldosterone-secreting adrenal adenoma
– HTN, hypokalemia, metabolic alkalosis (tetany), and LOW plasma renin
Treatment: remove the tumor; use spironolactone
Secondary Hyperaldosteronism
Kidneys think low intravascular volume –> overactive RAAS
cause: renal artery stenosis, CHF, cirrhosis, or nephrotic syndrome
HIGH renin levels
Addison Disease
chronic primary adrenal insufficiency due to adrenal atrophy or destruction by disease
deficiency of aldosterone and cortisol –> hypotension, hyperkalemia, acidosis and skin and mucosal hyperpigmentation (ACTH –> MSH)
ALL 3 cortical levels (spares medulla)
Fixed, hard and painless neck mass
Riedel thyroiditis
Very tender thyroid
de Quervian (subacute thyroiditis)
Moderately enlarged, nontender thyroid
Hashimoto thyroiditis
Subacute thyroiditis (de Quervain)
self limited hypothryoidism following a flu-like illness (post viral infection; ex coxsackie or mumps)
granulomatous inflammation (multinucleated giant cells)
jaw pain and very tender thyroid
Hasimoto thyroiditis
hypothyroidsm: autoimmune disorder
markers: anti-thyroid peroxidase and antithryroglobulin Ab
inc risk of non-Hodgkins lymphoma
Hurthle cells, lymphoid aggregate with germinal centers
nontender thyroid
Riedel thyroiditis
Thyroid replaced by fibrous tissue (hypothyroid)
Similar to anaplastic carcinoma but this is younger patient and cancer is older patient
Jod-Basedow phenomenon
thyrotoxicosis if a patietn with iodine deficiency goiter is given iodine too fast
(wgt loss but high appetite, tremor of hands, heat intolerance, anxiety, oligomenorrhea)
Graves Disease
Hyperthyroidism
IgG autoantibodies stimulate TSH receptors; retro-orbital fibroblasts secrete glycosaminoglycans and cause swelling behind eyes = proptosis); dermal fibroblasts (pretibial myxedema)
Need beta-blocker as A Fib is common
Toxic multinodular goiter
Focal patches of hyperfunctioning follicular cells working independently of TSH. inc release of T3 and T4
Thyroid Storm
stress-induced catecholamine surge: serious complication of Graves disease
Agitation, delirium, fever, diarrhea, coma and tachyarrhythmia (cause of death)
treat: beta-blocker, propylthiouracil, and corticosteroids
Pseudohypoparathyroidism
PTH receptor mutation
normal PTH levels (or high) but can not stimulate receptor
Hypocalcemia, short 4th/5th digit, short stature
Insulinoma
Tumor of beta cells –> hypoglycemia
Whipple Triad of CNS symptoms: lethargy, syncope, and diplopia
dec blood glucose and inc C-peptide
can be part of MEN1
Glucagonoma
Tumor of alpha cells –> hyperglycemia
** leg rash: necrolytic migratory erythema
Treatment: octreotide
Somatostatinoma
Tumor of delta cells: increased somatostatin
cholelithiasis + steatorrhea, diabetes mellitus, dec gastrin; dec cholecystokinin
Cortisol
BIG FIB
inc: BP, Insulin resistance, Gluconeogenesis (proteolysis)
dec: Fibroblast activation, Inflammation/Immune, Bone formation
Long Acting Insulin
Glargine and Detemir
GD: Good Day (only have to take once a day)
Regular Insulin
Short acting
Rapid Acting Insulin
Lispro, Aspart, Glulisine
Intermediate Acting Insulin
NPH
Carnitine Deficiency
inability to transport LCFAs into the mitochondria
– toxic accumulation
causes: weakness, hypotonia, and hypoketotic hypoglycemia
CARnitine = CARnage of fatty acids
Acyl-CoA dehydrogenase deficiency
decreased glucose AND ketones with fast
