quick reference terms Flashcards
congenital adrenal hyperplasia
21-hydroxylase deficiency, or other steroid hormone dyssynthesis problems. excess ACTH/MSH. SALT-WASTING. low aldosterone, hyperkalemia. hypotension, dehydration. virilization in females.
acromegaly
shoe size and hat size, coarse facial features, kidney stones, HTN, erectile dysfunction (when associated with lactotrope). they can have goiter as well.
DiGeorge syndrome
failure to develop the 3 and 4th pharyngeal pouches, thymus dysplasia, parathyroid dysplasia. hypocalcemia. congenital heart defects and dysmorphic facies. lack of T cells predisposes to infections, especially candida fungal.
albright hereditary osteodystrophy
end-organ unresponsiveness to PTH. this causes low calcium and high PTH. mutations linked to failure of adenyl cyclase activation. inadequate reabsorption of calcium from the proximal.
primary hyperparathyroidism
high calcium, high PTH, usually presents with kidney stone and renal colic. 85% caused by parathyroid adenoma. parathyroid adenoma is composed of chief cells.
parathyroid adenoma
part of the MEN1 and MEN2A syndromes. chief cells of the parathyroid. accounts for 85% of primary hyperparathyroidism. secretes PTH
secondary hyperparathyroidism
most likely caused by renal insufficiency. when all four glands are enlarged. diabetes is a reasonable cause.
MEN gene mutations?
RET. MEN-1 (for MEN-1)
MEN2A (sipple syndrome)
C-cell derived medullary thyroid carcinoma and chromatin cell pheochromocytoma. 33% have hyperparathyroidism as a results of adenoma or hyperplasia. hirsprung’s and gliomas are common -tumors of neural crest.
what is RET
tyrosine kinase family.
MEN-1
this is the three P’s parathyroid, pancreas, pituitary.
zollinger-ellisin syndrome
associated with MEN-1 and pancreatic disease. represents gastrinoma of the endocrine pancreas. this causes excess gastrin secretion and peptic ulcer formation.
cretinism
thyroid agenesis. secondary to congenital hypothyroidism. can be familial, endemic, sporadic. most common cause of cretinism is agenesis. sluggish, low temperature, large abdomen with umbilical herniation. refractory anemia. mental retardation and dwarfism if not corrected.
papillary carcinoma of the thyroid
most common thyroid tumor. branching papillae lined by epithelial cells with clear, ground glass, orphan annie eyed nuclei and fibrovascular cores. psammoma bodies are usually present.
reidel thyroiditis
soft tissue fibrosis. stony hard thyroid and described as woody. this is often asymmetric and only affects one lobe. there is typically a gradual onset of painless goiter and the thyroid becomes “adherent” to the underlying structures of the neck.
folicular adenoma
benign neoplasm exhibiting follicular differentiation. most common tumor of the thyroid and presents as cold nodule in a euthyroid person.
medullary thyroid carcinoma
derived from the c cells in the medullary thyroid. have nothing to do with thyroid function and are cold nodules. they do however play a role in calcium regulation because they secrete calcitonin and will have stromal amyloid present. eosinophilic material in the nodules. watery diarrhea caused by secretion of vast-active intestinal peptide.
what bone disease does long term steroids cause?
osteoporosis. this is why people with cushing’s present with compression fractures.
what does osteomalacia represent?
a malfunction of Vitamin D metabolism and features inadequate mineralization of new bone.
renal dysplasia
undifferentiated tubules and primitive mesenchyme. cystic structures look like they obliterate the parenchyma. there is heterotrophic tissue such as smooth muscle and cartilage present.
most likely place to find a solitary ectopic kidney?
in the pelvis, somewhere along the tract of development.
characteristic deposits in post-infectious GN
there are subepithelial dense deposits that look like humps. they are invariably found with subendthelial or mesangial deposits.
small cell carcinoma produces what type of glomerulonpehropathy>
membranous.
what can pyelonephritis cause in the kidney>
papillary necrosis.
henoch-shonlein purpura
this is an IgA nephropathy that causes a GN. with arthralgia and rash.
what is the most common kidney tumor?
renal cell carcinoma 90%. VHL gene highly associated
wilms tumor
most common in children. contains fetal elements blastema, immature mesenchyme and epithelial elements. sporadic and unilateral
neuroblastoma
palpable mass with urine VMA
where does renal cell carcinoma originate
from the renal tubules or ductal epithelial cells. composed of either cuboidal cells or solid nests.
sickle cell patients are at risk for what renal disease
papillary necrosis
what is a common cause of bladder diverticula?
prostatic hypertrophy. it holds urine in the bladder and causes infection
urothelial cell carcinoma in situ
velvety red patches on the bladder wall.
what is sarcoma boitryoides, how does it present?
this is an embryonal rhabdomyosarcoma. presents in children. edematous mucosal polyploid mass looks like a cluster of grapes.
urethral caruncle
polypoid inflammatory lesion near the urothelial meatus. it produces pain and bleeding. biopsy will reveal inflammation, granulation tissue, and epithelial hyperplasia.
what does schistomyosis do?
this is the cause of high rates of bladder cancer in egypt, sudan, etc. it causes squamous metaplasia of the bladder epithelium.
in sexually active males what is the most common infection and how does it present?
N. gonorrhea. dysuria, urgency and urethral duscharge.
what is balanitis
inflammation of the glans penis
what is the most common complication of chronic balanitis?
phimosis
yolk sac tumors
present as testicular masses with increased alpha fetal protein and schiller duval bodies
cryptorchidism produces what common tumor and where does it mets?
seminoma and it mets to the perimetric lymph nodes.
klinefelters
tall thin male, with 47, XXY. can present with gynecomastia and testicular atrophy is anticipated
achondroplasia
fibroblast growth factor receptor mutation. most common form of dwarfism. failure of normal epiphyseal cartilage formation. there is arrest of the development of the growth plate
why is 21-hydroxylase deficiency associated with short stature
because the deficiency leads to androgenital syndrome and premature closure of the epiphyseal growth plates.
pseudoarthrosis
when a fracture doesn’t heal properly due to soft tissue invasion, excessive movement, infection. the condition happens when there is joint like tissue formed
osteopetrosis i
disease of osteoclasts. failure of the osteoclasts to resorb the bone. there is retention of the primary spongiosum, lack of funnelization of the metaphysis and a thickened cortex.
osteomalacia
inadequate mineralization of the osteoid. vit d metabolism, phosphate deficiency or defects in the mineralization process itself.
legg-perthes disease
osteonecrosis of the femoral head in children. collapse of the femoral head leads to joint incongruity and osteoarthritis.
where does hemotogenous spread of osteomyelitis affect?
in the metaphysis of long bones. this is due to the unique avascular supply in that area.
sequestrum
infections of the bone followed by septic invasion
pagets disease
chronic disease characterized by lesions within the bone from disordered remodeling. there will be lytic lesions followed by disordered excessive bone formation. hallmark is a mosaic, jigsaw puzzle bone formation with prominent cement lines. english have a high incidence of the disease. hearing loss and risk of osteogenic sarcoma.
tophus
urate crystal
what is the pathogenesis of gout
impaired renal secretion of uric acid
pseudogout
calcium phosphate dihydrate deposition in a “coffin-like” manner within the synovial membranes, joint cartilage and ligaments and tendons.
principally a condition of age.
juvenile arthritis
chronic arthritic condition with prominent systemic symptoms of fever, rash, hepatosplenomegaly, LAD, pleuritis, and anemia.
what causes osteoporosis
increased osteoclast activity forms diffuse skeletal lesions in which the bone is decreased in mass and no longer gives necessary mechanical support.
myositis ossificans
when there is trauma, typically a broken bone, and the muscle is ossified and reactive bone formation occurs in the muscle.
osteoid osteoma
small, painful, benign lesion of bone composed of osseous tissue surrounded by a halo of reactive bone. tumor of the young, occurs in the cortex, pf trabecular bone of the lower extremities. reactive sclerotic bone surrounds the nidus
lipoma
most common soft tissue tumor. well-differentiated adipocytes. benign and circumscribed.
malignant fibrous histiocytoma is
a soft tissue tumor that contains foci of histocytic differentiation and is the most frequent sarcoma after radiation therapy. irregularly whorled pattern of spindle-shaped cells.
synovial sarcoma
highly malignant soft tissue tumor that arises next to a joint space, occurs principally in adolescent and young adults as a painful or tender mass in the vicinity of a knee.
endochondramatosis or ollier’s disease
development of numerous cartilaginous masses that leads to bony deformities. it is residual hyaline cartilage, anlage cartilage, or cartilage from the growth plate that does not undergo ossification and remains in the bones.
what bone disease does glucocorticoid therapy cause?
osteoporosis
