Simple Deck Flashcards
Autosomal dominant (adult) polycystic kidney disease
PKD-1 and 2 –> polycystin 1 and 2
tons of fluid filled cysts, irregular surface, organ enlargement
asymptomatic until 4th decade
Clinical: flank pain, loin heaviness, liver cysts
Autosomal recessive (childhood) polycystic kidney disease
PKHD-1 –> fibrocystin
surface is smooth, radial arrangement
congenital hepatic fibrosis, too
Glomerulonephritis
immune complexes kill glomeruli
hypercellularity, glomerular necrosis
patients present with nephritic syndrome
Acute poststreptococcal glomerulonephritis
Strep Ag-Ab complexes kill glomeruli
IgG and C3 deposits
Subepithelial humps and lumps and humps and lumps
Red casts in the tubules
Crescentic glomerulonephritis
Severe glomerulonephritis
anti-type IV collagen Ab
breaks in the BM, crescents formed by proliferated parietal cells
clinical: severe, rapid nephritic syndrome
Goodpasture syndrome
Autoimmune disease that attacks collagen in the type IV collagen in the BM of lungs and kidneys, causes crescentic glomerulonephritis
Acute tubular necrosis
causes: ischemia or toxins
straight PCT and thick Henle get jacked up
proteinaceous casts of Hb and proteins in DCT and CDs
Acute pyelonephritis
cause: gram-negative bacteria; ascending or hematogenous
bacteria in urine: 100k/ml
focal lesions in kidneys
leukocyte casts in urine
Wilms tumor
large kidney tumor in children
embryonal elements/mixed tissues
90% sporadic, 10% WT1 gene
Renal cell carcinoma
malignant neoplasm of renal tubular or ductal epithelial cells
seen in older men
sporadic VHL mutation association
Clear Cell is common type: yellow-orange mass from lipid and glycogen
Clinical: hematuria, flank pain, palpable mass is the triad
Urothelial carcinomas
cancer of the bladder - transitional epithelium
cigarette smoking might cause it
clinical: sudden hematuria, dysuria
most (85%) are confined to bladder
GH/prolactin-secreting pituitary adenoma
Most common multi-hormone adenoma of the anterior pituitary
Amenorrhea, galatorrhea, loss of libido, infertility
Gigantism or acromegaly
Prolactinoma
Adenoma of the anterior pituitary that causes amenorrhea, galactorrhea, loss of libido, and infertility in women.
Somatotroph adenoma
Adenoma of the anterior pituitary that causes acromegaly or gigantism.
ACTH-producing adenoma
Adenoma of the anterior pituitary that causes Cushing syndrome, hypercortisolism, hyperpigmentation.
Craniopharyngioma
benign tumor from the remnants of Rathke’s pouch
Sheehan syndrome
hypotension from postpatrum hemorrhage –> ischemic necrosis of the pituitary
Cretinism
hypothyroidism at an early age
impaired skeletal and CNS development, coarse facial features, protruding tongue, umbilical hernia
Hashimoto disease
Goiterous hypothyroidism without iodine deficiency; autoimmune - T cells kill the thyroid gland.
Gland is diffusely enlarged, firm. Cut surface is pale tan and flashy.
Clinical features typical of hypothyroidism
Papillary carcinoma
Most common thyroid cancer type.
MAP kinase pathway activation, RET proto-oncogene mutated
Orphan Annie Eye nuclei, dense fibrovascular cores, psamonna bodies
Hyperparathyroidism
Hypersecretion of PTH from various causes - often to correct for hypocalcemia.
Clinical: hypercalcemia, bone demineralization, urinary stones, bile stones, caridiac arrhythmias.
Cushing syndrome
Adrenal hyperfunction –> lots of cortisol
Clinical: moon face, buffalo hump, skin striations
Addison disease
Adrenal hypofunction caused by autoantibody attack, TB, AIDS, or metastatic cancers.
Clinical: weakness, weight loss, GI symptoms, hyperpigmentation
Phaeochromocytoma
Neoplasm of the adrenal medulla –> tons of catecholamines
Most are sporadic, some associated with VHL disease, Multiple endocrine neoplasia (MEN)
Circumscribed nests of neoplastic cells (Zellballen).
Clinical: hypertension, tachycardia, nervousness. Dx made if catecholamines and vanillylmandelic acid are in urine.
Hereditary spherocytosis
Hemolytic anemia caused by defects in membrane proteins.
3/4 are autosomal dominant, 1/4 are AR
RBC lifespan is 10-20 days
Clinical: moderate to severe anemia, pigment stones, hemosiderosis, jaundice.
Sickle cell anemia
Hemolytic anemia due to single AA substitution in Hb B-globin chain.
Deoxy HbS –> polymerization. Repeated oxy-deoxy cycles –> calcification, destruction of RBCs.
Clinical: reticulocytosis, hyperbilirubinemia, hemosiderosis, gallstones, autosplenectomy, acute chest syndrome, stroke, vaso-occlusive (pain) crises.
Tx: hydroxyurea (increases HbF and NO)
Glucose-6-Phosphate dehydrogenase deficiency
X-linked recessive. Enzyme needed to protect RBCs against oxidation. More hemolysis occurs.
Stay away from antibiotics, large doses of aspirin, antimalarials, moth balls (napthalene), fava beans.
Bite cells, Heinz bodies.
Thalassemia
Unbalanced Hb a-globin or B-globin synthesis.
unpaired globins aggregate, kill cells
New bone formation due to marrow expansion –> crew cut skull x-ray
Iron deficiency anemia
Microcytic-hypochromic anemia caused by blood loss, diet deficiency, or increased iron demands.
Pencil/cigar-shaped cells.
Low serum iron, ferritin, transferrin. High total iron binding capacity.
Pernicious anemia
Autoimmune attack on gastric mucosa –> no intrinsic factor –> no B12 absorption –> impaired DNA synthesis –> no more new blood cells
Macrocytic-hyperchromic RBCs. CNS lesions, neuro problems (B12 only, NOT folate deficiency)
Atrophy of gastric fundic glands.
Polycythemia vera
Primary polycythemia: EPO-independent growth of RBC progenitors due to EPO receptor mutation (constitutive signaling)
Clinical: viscous blood impairs cardiac and peripheral flow, dark red skin (as with all polycythemias).
Chuvash polycythemia
Secondary polycytheima: mutated VHL increases HIF-1a stability.
Clinical: viscous blood impairs cardiac and peripheral flow, dark red skin (as with all polycythemias).
Prolyl hydroxylase mutations
The mutation causes secondary polycythemia somehow.
Clinical: viscous blood impairs cardiac and peripheral flow, dark red skin (as with all polycythemias).
Acute promyelocytic leukemia
Subtype of AML. Cancer of WBCs, causing accumulation of immature granulocytes that are blocked from differentiation due to a chromosomal translocation –> abnormal PML/RARA fusion protein.
Tx with all-trans retinoic acid
Chronic myelogenous leukemia
Cancer of WBCs. Hyperproliferation of neoplastic myeloid progenitors that retain the ability to differentiate.
Philadelphia chromosome, BCR/ABL fusion –> tyrosine kinase activation
Burkitt lymphoma
3-7 y.o, Central Africa
MYC translocation, EBV in endemic cases
large facial tumors
Acute lymphoblastic leukemia
Most common childhood leukemia. Proliferation of immature B lymphoblasts in bone marrow and peripheral blood.
Diffuse large B cell lymphoma
Most common lymphoma in adults.
Immunoblasts have prominent nucleoli.
BCL6 and BCL2 gene rearrangements.
Hodgkin lymphoma
monoclonal B lymphocyte neoplasm
Reed-Sternberg cells
staging is important
most common malignancy in Americans b/t 10-30 y.o.
Multiple myeloma
neoplasm of terminally differentiated B cells –> plasma cells
infiltrates bone marrow –> punched out skull lesions
dysregulation of D cyclin
Bence Jones protein is made (Ig component), gets to kidneys and kills kidneys –> renal failure
Condyloma acuminatum
Genital warts
HPV 6 or 11
single or multiple
with (sessile) or without stalk (pedunculated)
hyperkeratosis, epidermal thickening
koilocytosis, orderly maturation remains
Bowen disease
carcinoma in situ of penis
HPV 16
single, thick, grey-white, opaque plaque
OR
reddish plaque on glans penis = Erythoplasia of Queyrat
no orderly differentiation, BM intact
Bowenoid papulosis
The other carcinoma in situ of penis
HPV 16
multiple red-brown lesions
young, sexually active men
doesn’t develop into invasive carcinoma
Squamous cell carcinoma of the penis
Grey, crusted papular lesion on the glans penis or prepuce
infiltrates/invades the CT
25% have inguinal node involvement at Dx
5 yr survival rate is 70%
Cryptorchidism
undescended testicles
arrested germ cells
hyalinization and thickened BM
prominent Leydig cells
higher risk for testicular cancer even after Sx correction
Seminoma
Germ cell tumor of testis
most common testicular cancer; 30-40 y.o.
uniform nests and sheets of polygonal cells with central nuclei
lots of glycogen and lipid –> clear staining
25% have hCG + staining
90% cure rate
Acute prostatitis
cause: UTI bacteria
polys (neutrophils) infiltrate stroma –> microabscesses
edema, congestion
Clinical: dysuria, low back pain, pelvic pain, PSA possibly elvevated
Chronic prostatitis
glandular injury, lymphocyte infiltrate
fibroblastic proliferation
many WBCs present despite negative bacterial culture
clinical is the same as acute prostatitis: dysuria, pelvic, back pain, PSA elevated
Benign prostatic hyperplasia (BPH)
transitional or central zones
proliferation of epithelial (glandular) and stromal (fibromuscular) elements
cut surface: well-circumscribed nodules, dilated glands create cystic spaces
tall columnar cells and peripheral basal cells
compression of uretrha
Prostate cancer
peripheral zone
older folk
no basal reserve cells
Gleason grading
clinically silent, PSA may indicate but better used for recurrence indication. Metastasis to bones
Lichen sclerosus
White plaque like leukoplakia
parchment/crinkled, atrophic skin
monocyte infiltrate, hydropic degeneration, hyperkeratosis and fibrosis
Clinical: itching, dyspareunia, 1-5% –> squamous carcinoma
biopsy needed
Basaloid and warty carcinomas
HPV 16, 18
VIN (no maturation, atypia) –> squamous carcinoma
nests and cords of tightly packed squamous cells
focal central necrosis possible
warty type grows outward and has koilocytic atypia
Clinical: itching, ulcers and secondary infection
lymph spread, hemato/lymph spread to other organs common
Keratinizing squamous cell carcinoma of the vulva
NO HPV
from lichen sclerosus or squamous hyperplasia
older folk
infiltrating but normal differentiation and maturation
keratin pearls
Clinical: itching, ulcers and secondary infection
lymph spread, hemato/lymph spread to other organs common
Cervical intraepithelial neoplasia
aka dysplasia
HPV 16, 18
classification: LSIL (1/3 of epi) or HSIL (2/3)
atypia, big nuclei, hyperchromic, coarse chromatin granules, koilocytes
10% LSIL –> carcinoma
Squamous cell carcinoma of cervix
makes up 75% of cervical cancers
nests, tongues of malignant squamous epi, keratinizing or non-keratinizing, invades underlying stroma
Endometriosis
Abnormal endometrial glands + stroma outside uterus
Yellow-red = blood breakdown, red in early form
Powder burns, chocolate cysts
Found on ovaries most often
Clinical: dysmenorrhea, dyspareunia, pelvic pain
Adhesions, ectopic pregnancy
Endometrioid adenocarcinoma aka type 1
Associated with estrogen stimulation, obesity, hypertension, diabetes
mutated mismatch repair, PTEN tumor suppressor
Well (grade 1), moderately (2), poorly (3) differentiated
Non-endometrioid adenocarcinoma aka serous carcinoma of the endometrium aka type 2
happens decade later than type 1
NO estrogen association
poor differentiation, always grade 3
p53 mutation in 90%
