Exam 9 Flashcards

(102 cards)

1
Q

Sheehan Syndrome

A
  • Ischemic necrosis of the pituitary gland leading to hypopituitarism
  • Affects women in postpartum period
    • During pregnancy, pituitary doubles in size but blood supply remains the same
  • Presentation: impaired lactation, loss of pubic hair, fatigue
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2
Q

Rathke Cleft Cyst

A
  • Remnants from embryonic development can accumulate fluid, become cystic, and expand
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3
Q

Empty Sella Syndrome

A
  • Malformation of sella turcica that becomes filled with CSF
  • Pituitary gland is compressed/flattened so that the sella turcica appears flattened
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4
Q

Diabetes Insipidus

A
  • Low ADH secondary to head trauma, surgery, tumors, and inflammatory disorders of the hypothalamus and pituitary
  • Presentation: polyuria, polydipsia, increased serum sodium, low spec. gravity of urine
  • Dx: Water deprivation test
  • Tx: Desmopressin
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5
Q

Syndrome of Inappropriate ADH (SIADH)

A
  • High ADH causing resorption of excessive amounts of free water, leading to hyponatremia
  • Presentation: hyponatremia, low serum osmolarity, cerebral edema, neurologic dysfunction/seizures
  • Tx: water retention, demeclocycline
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6
Q

Craniopharyngioma

A
  • Derived from remnants of Rathke’s pouch
  • Rare, benign, bimodal distribution (children & elderly)
  • Presentation: growth retardation (children), headaches and visual disturbances (elderly)
  • Two histological variants
    • Adamantinomatous craniopharyngioma (children)
    • Papillary craniopharyngioma (elderly)
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7
Q

Pituitary Carcinoma

A
  • Malignant counterpart of pituitary adenoma
  • Very rare
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8
Q

Congenital Malformations of the Thyroid Gland

A
  • Thyroglossal Duct Cyst
  • Lingual Thyroid
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9
Q

Hyperthyroidism

A
  • Elevated T3 and T4 results in a hypermetabolic state
  • Increases basic metabolic rate and sympathetic nervous system activity
  • Clinical features
    • Weight loss, heat intolerance, arrythmias, anxiety, insomnia, oligomenorrhea
    • Ocular changes: lid lag
    • GI hypermobility, malabsorption
    • Osteoporosis
  • High levels of T3/4, low levels of TSH
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10
Q

Thyroid Storm

A
  • Acute, life-threatening, hypermetabolic state caused by abrupt onset of severe hyperthyroidism
  • Most common in patients with Graves Disease
  • Clinical Presentation: fever, tachycardia, HTN, GI symptoms
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11
Q

Renal Papillary Adenoma

A
  • Benign
  • Found in the renal cortex
  • Arise from renal tubular epithelium
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12
Q

Oncocytoma

A
  • Benign
  • Arise from intercalated cells of collecting ducts
  • Mahogany brown color
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13
Q

Angiomyolipoma

A
  • Benign
  • Associated with tuberous sclerosis
    • Lesions of cerebral cortex, epilepsy, mental retardation, SEGA, angiofibromas, rhabdomyomas
  • Can bleed spontaneously
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14
Q

Renal Cell Carcinoma

A
  • Most common renal malignant tumor
  • 6th-7th decade; M>F; tobacco use
  • Only 4% are familial variants
    • Von Hippel-Lindau Syndrome
    • Hereditary Clear Cell Carcinoma
    • Hereditary Papillary Carcinoma
  • Frequently invades renal veins or the vena cava
  • Most often arises at the renal poles
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15
Q

Clear Cell Carcinoma

A
  • Histological variant of RCC
  • Most common type
  • Majority are sporadic
  • Majority are associated with loss of sequences on short arm of chromosome 3
  • Grading (Fuhrman) based on nuclear size and presence of nucleoli
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16
Q

Papillary Carcinoma

A
  • Histological variant of RCC
  • Characterized by papillary growth pattern
  • Frequently multifocal and bilateral
  • Associated with Dialysis-associated Cystic Disease
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17
Q

Chromophobe Renal Carcinoma

A
  • Histological variant of RCC
  • Prominent cell borders with eosinophilic cytoplasm
  • Excellent prognosis
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18
Q

Collecting Duct (Bellini Duct) Carcinoma

A
  • Histological variant of RCC
  • Rarest of the four
  • Arise from collecting duct cells in the medulla
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19
Q

What are the clinical features of renal cell carcinoma?

A
  • Three classical features (seen in 10%):
    • Costovertebral pain
    • Palpable mass
    • Hematuria (most reliable)
  • Other symptoms: fever, malaise, weakness, weight loss
  • Paraneoplastic syndromes: polycythemia, hypercalcemia, htn, hepatic dysfunction, Cushing syndrome, etc.
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20
Q

What are the most common locations of metastasis in renal cell carcinoma?

A
  • Lungs (>50%)
  • Bones (33%)
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21
Q

Urothelial Carcinomas of Renal Pelvis

A
  • Become rapidly clinically apparent, producing hematuria (due to fragmentation of tumor)
  • Associated with pre-existing bladder tumor and analgesic nephropathy
  • Benign Papilloma or Invasive Urothelial Carcinoma
  • More often malignant than benign
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22
Q

What are the two precursor lesions to Invasive Urothelial Carcinoma?

A
  • Papillary lesions can lead to:
    • Papillomas (benign; <1%)
    • Inverted Papillomas (benign; inter-anastomosing cords of urothelium extending toward the lamina propria)
    • Low-grade Papillary Urothelial Carcinoma
    • High-grade Papillary Urothelial Carcinoma (higher incidence of invasion into muscular layer)
  • Flat lesions can lead to:
    • Carcinoma In-Situ/Flat Urothelial Carcinoma (pagetoid spread)
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23
Q

Squamous Cell Carcinoma

A
  • Bladder carcinoma associated with schistosomiasis
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24
Q

Adenocarcinoma

A
  • Bladder carcinoma
  • Arise from urachal (embryonic) remnants or in association with intestinal metaplasia
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25
What is the most common mesenchymal tumor overall and most common sarcoma in adults?
* Leiomyoma (most common overall) * Leiomyosarcoma (most common sarcoma in adults)
26
Peyronie Disease
* Fibrous bands involving corpus cavernosum of penis
27
What are the characteristics of Nephrotic Syndrome?
* Urinary loss of plasma proteins (**proteinuria**, \>4g/day) * Increased basement membrane permeability * Hypoalbuminemia --\> edema * Hyperlipidemia and Hypercholesterolemia
28
Minimal Change Disease
* Most common in children * **Fusing of foot processes** on EM * Good response to steroids
29
Focal Segmental Glomerulosclerosis
* Pts somewhat older compared to MCD * Usually resistant to steroid therapy * Juxtamedullary glomeruli demonstrate sclerosis within capillary tufts
30
Membranous Glomerulonephritis (Membranous Nephropathy)
* Highest incidence in teenagers and young adults * Marked thickening of basement membrane * Numerous electron-dense immune complexes * **"Spike and dome" appearance** * Poor response to steroids
31
Diabetic Nephropathy
* Increased thickness of glomerular basement membrane * Thickened and sclerosed afferent and efferent arterioles * Increase in mesangial matrix causing: * Diffuse Glomerulosclerosis * Nodular Glomerulosclerosis (**Kimmelstiel-Wilson Nodules**) * **Armanni-Ebstein Lesion**: accumulation of glycogen in tubular cells in long-standing hyperglycemia
32
Amyloidosis
* Primarily subendothelial and mesangial deposits * Identified by **congo red stain** and **apple-green birefringence** under polarized light * Characteristic criss-cross fibrillary pattern of amyloid
33
Lupus Nephropathy
* Renal component of SLE * 5 Classes * Class IV (Diffuse Proliferative Glomerulonephritis) * Most common, most severe * **Subendothelial immune complex deposition** * "Wire loop" abnormality * "Fingerprint" pattern
34
What are the characteristics of Nephritic Syndrome?
* Glomerular **inflammation** and **bleeding** into urinary space * Oliguria * Azotemia * Hypertension * Hematuria with RBC casts * Limited proteinuria
35
Acute Proliferative (Poststreptococcal) Glomerulonephritis
* Majority associated with streptococcal (group A) infection * Subepithelial immune complex disease * Large, hypercellular, bloodless glomeruli * Subepithelial electron-dense "humps"
36
Rapidly Progressive (Crescentic) Glomerulonephritis
* Characteristic **crescent** formation from proliferation of parietal cells of Bowman's capsule * Rapidly progresses to renal failure within weeks to months * Can be caused by _Goodpasture Syndrome_ * Antiglomerular besement membrane antibodies * **Linear immunofluorescence**
37
Alport Syndrome
* Hereditary nephritis associated with nerve deafness and ocular disorders * Defect in Type IV collagen * Thinning and splitting of the glomerular basement membrane
38
IgA Nephropathy (Berger Disease)
* Characteristic IgA deposition in the mesangium * Associated with Henoch-Schonlein Purpura
39
Membranoproliferative Glomerulonephritis
* Characterized by basement membrane thickening and cellular proliferation * Reduplication of glomerular basement membrane into two layers creating **"tram-track"**** appearance** * Two forms: * _Type I_: immune complex nephritis; striking "tram-track" appearance * _Type II_: "tram-track" appearance less apparent; **dense-deposits** within glomerular basement membrane
40
Urinary Tract Obstruction
* Increases susceptibility to infection and stone formation * Clinical features: * Hydronephrosis * Renal colic * Pain * Oliguria, Anuria
41
Urolithiasis
* Most arise in renal pelvis and calyces * Form due to supersaturation of urine
42
Calcium Oxalate Stones
* **Most common** type * Arise due to hypercalcemia and hypercalciuria * Mechanism: nucleation of calcium oxalate by uric acid crystals in the collecting duct
43
Magnesium Ammonium Phosphate Stones
* Due to infections by bacteria * Staghorn calculi
44
Uric Acid Stones
* Common in gout and leukemia * Only stones that are **radiolucent**
45
Cystine Stones
* Least common of the four * Caused by genetic defects in the renal reabsorption of cystine leading to cystinuria * Form at low urinary pH
46
What are the clinical symptoms of urinary tract stones?
* Severe, intermittent flank pain often radiating to the groin * Nausea, vomiting, hematuria * Costovertebral angle tenderness
47
Acute Pyelonephritis
* E. Coli is **most common** cause * Clinical Presentation: * Fever, flank pain, dysuria, urgency * Findings: WBC casts in urine, increased WBCs, findings of cystitis
48
Renal Papillary Necrosis
* Associated with **DM** (most common), **Analgesic abuse** (phenacetin), **Sickle cell disease** * Ischemia due to marginal blood supply of medulla * Clinical presentation: * Bilateral and diffuse: ARF, fever, chills, flank pain, hematuria * Insidious: concentrating defect or progressive renal failure
49
Xanthogranulomatous Pyelonephritis
* Destructive chronic histiocytic inflammation * Clinical presentation: * Renal mass, pain, fever
50
Chronic Pyelonephritis
* Chronic tubulointerstitial inflammation * **"Thyroidization"** of kidney--atrophic tubules that look like thyroid follicles
51
Cystitis
* Clinical presentation: * Dysuria, increased urinary frequency, urgency, suprapubic pain * Cloudy urine, \>10WBC/HPF, + Leukocyte esterase, + Nitrites, \>100k CFU
52
Urethritis
* Causes: E. Coli, Chlamydia, Neisserria * Clinical presentation: * Dysuria, urgency of urination * Negative urine culture, \>10WBC/HPF
53
AD (Adult) Polycystic Kidney Disease
* Multiple expanding cysts of both kidneys * Mutation in genes on chromosome 16p13.3 (PKD1) and 4q21 (PKD2) * _PKD1_: 85% of cases; more severe; localized to tubular epithelial cells of distal nephron * _PKD2_: 15% of cases; less severe; localized to all segments of renal tubules * Clinical features: * Renal insufficiency, pain, renal colic, heamturia, proteinuria, polyuria, htn * **Polycystic liver disease** (40%), **Berry aneurysms**, **mitral valve prolapse**
54
AR (Childhood) Polycystic Kidney Disease
* Mutation of PKHD1 gene of chromsome 6p21-p23 * Develop congenital hepatic fibrosis
55
Medullary Sponge Disease
* Lesions consisting of multiple cystic dilations of the collecting ducts in the medulla * Renal function is usually normal
56
Medullary Cystic Disease
* Cysts most prominent at corticomedullary junction * Widespread **cortical atrophy** * Glomerular structure is preserved
57
Multicystic Renal Dysplasia
* Abnormality in metanephric differentiation * Abnormal kidney architecture, persistence in kidney of abnormal structures (e.g. cartilage), undifferentiated mesenchyme, immature collecting ducts
58
Acquired (Dialysis-associated) Cystic Disease
* Seen in kidneys that have undergone prolonged dialysis * Cortical and medullary cysts * Cysts often contain calcium oxalate crystals
59
Pituitary Adenomas
* Benign tumors of anterior pituitary * **Most common** cause of hyperpituitarism * May secrete one, multiple, or no hormones
60
Prolactinoma
* **Most common** type of functioning adenoma * Clinical features: * Amenorrhea & galactorrhea (females) * Loss of libido & headaches (males) * Tx: Bromocriptine (dopamine agonist)
61
Somatotrophic Adenoma
* Secrete GH * Second most common type of adenoma * Clinical features: * _Gigantism_ (children): linear bone growth, increased height with long arms and legs * _Acromegaly_ (adults): enlarged bones of hands, feet, forehead, jaws, tongue, and viscera
62
Corticothophic (ACTH) Adenoma
* Adenoma producing POMC (precuror of ACTH and beta-lipotropin) * Excess ACTH --\> hypercortisolism * _Cushing Syndrome_ * _Cushing Disease_
63
Gonadotrophic Adenoma
* LH and FSH producing adenomas
64
Thyrotroph Adenoma
* TSH producing adenoma
65
Non-functioning Adenomas
* 30% of pituitary adenomas * Presentation related to mass effect: * Hypopituitarism * Bitemporal hemianopsia * Headaches * Pituitary apoplexy
66
Pituitary Apoplexy
* Hemorrhagic destruction leading to hypopituitarism * Excruciating headaches, diplopia, CV collapse
67
Graves Disease
* **Most common** cause of hyperthyroidism * IgG autoantibodies bind to TSH receptor stimulating hormone production * F\>M; 20-40s * Clinical features: * Hyperthyroidism * Diffuse goiter * _Exopthalmos_ and pretibial myxedema * Histology: **scalloped borders**
68
Hypothyroidism
* F\>M * Manifestations: * _Cretinism_: impaired neural and skeletal development in **infancy** * _Myxedema_: hypothyroidism that develops in older children or adults, resulting in slowed physical and mental activity; goiter (due to increased TSH) * Decreased T3/4, increased TSH
69
What is the most common cause of hypothyroidism worldwide?
* Iodine Deficiency
70
Hashimoto Thyroiditis
* **Most common** cause of hypothyroidism in iodine-sufficient areas * Autoimmune disorder causing gradual destruction of thyroid gland though auto-antibodies * F\>M; 40-50s * Histology: **Hurthle cells**
71
Subacute (Granulomatous) Thyroiditis (De Quervain Thyroiditis)
* Follows viral infection (Coxsaxkievirus, Mumps, Measles, Adenovirus) * F\>M; 40-50s * Clinical presentation: * Painful gland, transient hyperthyroidism
72
Reidel Fibrosing Thyroiditis
* Chronic inflammation and extensive fibrosis * Clinical presentation: * Hypothyroidism, **"hard as wood"** painless thyroid
73
Follicular Adenoma
* Benign proliferation surrounded by fibrous cap * Unilateral, painless nodule
74
Papillary Carcinoma
* **Most common** form of thyroid cancer * F\>M; 20-40s * Genetic alterations * _RET/PTC_ * _BRAF_ * Morphology: **"Orphan Annie eye" nuclei**
75
Follicular Carcinoma
* F\>M; 40-60s * Invasion through the gland's fibrous cap
76
Anaplastic (Undifferentiated) Carcinoma
* Rare; elderly * Histology: Anaplasia, pleomorphism, variable architecture * Clinical presentation: * Dyspnea, dysphagia, hoarsness, cough * _Fixed_, rapidly enlarging neck mass * Very aggressive with near 100% mortality rate
77
Medullary Thyroid Carcinoma
* Derived from parafollicular C cells * Secretes **calcitonin** * Histology: _amyloid_ stromal background
78
Primary Hyperparathyroidism
* Clinical presentation: * **"Painful bones, renal stones, abdominal groans, psychic moans"** * Due to high PTH and Ca++ * F\>M * Lab: High PTH, High Ca++, Low PO4
79
Parathyroid Adenoma
* **Most common** cause of primary hyperparathyroidism * Solitary * Composed of uniform, polygonal chief cells and involve a _single_ gland
80
Secondary Hyperparathyroidism
* Caused by chronic hypocalcemia (of any etiology) resulting in compensatory overactivity of parathyroid gland * **Most common** cause is _renal failure_ * Lab: High PTH, Low Ca++, High PO4
81
Di George's Syndrome
* Caused by deletion of **22q11** * **CATCH-22** * Cardiac abnormalities (tetralogy of Fallot) * Abnormal facies * Thymic aplasia * Cleft palate * Hypocalcemia/_Hypoparathyroidism_ (aplasia)
82
What is Chvostek sign?
* Tapping along facial nerve induces contractions of eye, mouth, or nose muscles * Indicates tetany due to _hypocalcemia_
83
What is Trousseau sign?
* Carpal spasms elicited by filling of a blood pressure cuff * Indication of tetany due to _hypocalcemia_
84
Pseudohypoparathyroidism
* End-organ resistance to PTH
85
Insulinoma
* **Most common** endocrine neoplasm (most pancreatic neoplasms are exocrine!) * Clinical features: * Hypoglycemic episodes causing confusion, stupor, loss of consciousness * **Whipple's Triad**: hypoglycemia, CNS symptoms, reversal by glucose administration * Increased _C-peptide_
86
Gastrinoma
* Hypersecretion of gastrin * Arise anywhere within the "_Gastrinoma Triangle"_ * **Zollinger-Ellison Syndrome** * Hypergastrinemia * Hypersecretion of gastric acid * Severe peptic ulceration * Diarrhea
87
Glucagonomas
* Clinical features: * Mild hyperglycemia * Necrolytic migratory erythema * Anemia
88
VIPomas
* Secrete vasoactive intestinal peptide (VIP) * Clinical features: * Watery diarrhea, hypokalemia, achlorhydria (low or absent gastric acid production)
89
Wermer Syndrome
* MEN Type I * Affects 3Ps * Parathyroid: primary hyperparathyroidism * Pancreas: gastrinomas and insulinomas most common * Pituitary: prolactin and GH adenomas most common * Germline mutation in MEN1 tumor suppressor gene, which affects it's product **Menin**
90
Sipple Syndrome
* MEN Type IIa * Medullary carcinomas (100%), Pheochromocytoma (50%), Parathyroid hyperplasia (20%) * Germline mutation in _RET proto-oncogene_ * Loss of function mutation results in **Hirschsprung Disease**
91
Familial Medullary Thyroid Cancer
* Variant of MEN Type IIa
92
MEN Type IIb
* Medullary thyroid carcinoma: multiple, aggressive, leading cause of death * Pheochromocytoma * Neuromas/Ganglioneuromas * Marfanoid Habitus
93
Cushing Syndrome
* Hypercorticism regardless of cause * **Most common** cause is exogenous adrenal corticoids
94
Cushing Disease
* Adrenal hypercorticism secondary to pituitary disease * e.g. corticotropic adenoma --\> hypersecretion of ACTH --\> increased production of cortical hormones
95
Dexamethasone Suppression Test
* Given at low and high doses * _Low dose_: suppresses cortisol when no pathology in endogenous cortisol production * _High dose_: exerts negative retro-control on pituitary ACTH producing cells, but not on ectopic ACTH producing cells or adrenal adenoma
96
Conn Syndrome
* Primary Aldosteronism * **Most common** cause is adrenocortical adenoma * Clinical features: * HTN, Na+ and water retention, hypokalemia, _decreased serum renin_
97
Secondary Aldosteronism
* Secondary to renal ischemia, renal tumors, and profound edema * _Increased serum renin_
98
Adrenal Virilism (Adrenogenital Syndrome)
* Congenital enzyme defect leading to diminished cortisol production * Causes: * _21-Hydroxylase Deficiency_: **most common**; salt loss and hypotension * _11-Hydroxylase Deficiency_: salt retention and hypertension * Clinical features: * Virilism (females), precocious puberty (males)
99
Addison Disease
* Primary Adrenocortical Deficiency (hypocorticism) * **Most common **cause is idiopathic adrenal atrophy * Clinical features: * Hypotension, hyperpigmentation, decreased Na+, Cl-, glucose, bicarb, increased K+
100
Waterhouse-Friderichsen Syndrome
* Catastrophic adrenal insufficiency and vascular collapse * Due to hemorrhagic necrosis of adrenal cortex * Associated with _DIC_ * Classically due to **meningococcemia**
101
Pheochromocytoma
* Derived from chromaffin cells of adrenal medulla * Paroxysmal HTN due to hyperproduction of catecholamines
102
Neuroblastoma
* Highly malignant **"small blue cell"** catecholamine-producing tumor * Occurs in _early childhood_ * Causes HTN * Amplification of _N-myc oncogene_