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
2
Q
Rathke Cleft Cyst
A
- Remnants from embryonic development can accumulate fluid, become cystic, and expand
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
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
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
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)
7
Q
Pituitary Carcinoma
A
- Malignant counterpart of pituitary adenoma
- Very rare
8
Q
Congenital Malformations of the Thyroid Gland
A
- Thyroglossal Duct Cyst
- Lingual Thyroid
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
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
11
Q
Renal Papillary Adenoma
A
- Benign
- Found in the renal cortex
- Arise from renal tubular epithelium
12
Q
Oncocytoma
A
- Benign
- Arise from intercalated cells of collecting ducts
- Mahogany brown color
13
Q
Angiomyolipoma
A
- Benign
- Associated with tuberous sclerosis
- Lesions of cerebral cortex, epilepsy, mental retardation, SEGA, angiofibromas, rhabdomyomas
- Can bleed spontaneously
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
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
16
Q
Papillary Carcinoma
A
- Histological variant of RCC
- Characterized by papillary growth pattern
- Frequently multifocal and bilateral
- Associated with Dialysis-associated Cystic Disease
17
Q
Chromophobe Renal Carcinoma
A
- Histological variant of RCC
- Prominent cell borders with eosinophilic cytoplasm
- Excellent prognosis
18
Q
Collecting Duct (Bellini Duct) Carcinoma
A
- Histological variant of RCC
- Rarest of the four
- Arise from collecting duct cells in the medulla
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.
20
Q
What are the most common locations of metastasis in renal cell carcinoma?
A
- Lungs (>50%)
- Bones (33%)
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
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)
23
Q
Squamous Cell Carcinoma
A
- Bladder carcinoma associated with schistosomiasis
24
Q
Adenocarcinoma
A
- Bladder carcinoma
- Arise from urachal (embryonic) remnants or in association with intestinal metaplasia
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_