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Renal Endocrine > Diseases > Flashcards

Diseases Flashcards

1
Q

Alport Disease

A

Nephritic disease. X-linked defect in COL4A5 in the BM. Deafness and ocular disturbances

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2
Q

Thin Membrane disease

A

Nephritic disease. Defective COL4A3 and COL4A4 in the BM

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3
Q

Pierson Syndrome

A

Defective laminin in the BM

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4
Q

Lesch-Nyhan Syndrome

A

X-linked complete deficiency in HGPRT. no purine salvage pathway which leads to kidney failure

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5
Q

Gout

A

decreased HGPRT leads to increased purine synthesis and the inability to excrete uric acid

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6
Q

Renal Agenesis (Potter Sequence)

A

no kidney formation leads to oligohydramnios

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7
Q

Wilms Tumor

A

nephroblastoma. Mutation in WT1 gene. WAGR syndrome. Most common in children

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8
Q

Congenital Virilizing Hyperplasia

A

21 hydroxylase deficiency leading to no cortisol production and increased androgen synthesis which causes pseudohermaphroditism in females

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9
Q

extrophy of the bladder

A

protrusion of bladder through the abdominal wall

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10
Q

epispadia/hypospadia

A

urethra opens dorsal/ventral on penis

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11
Q

VHL

A

tumor suppressor gene mutation leading to increased tumors in the retina, brain, kidney, and pancreas

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12
Q

Oncocytoma

A

benign tumor with many mitochondria. mahogany color with stellate scar. tumor of the collecting duct. Sharp demarkation

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13
Q

angiomyolipoma

A

benign tumor with dilated vessels, fat deposition, smooth muscle cells

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14
Q

renal cell carcinoma

A

most common kidney tumor. derived from the proximal tubule. clear cell type is the most common

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15
Q

Urothelial carcinoma

A

transitional cell carcinoma. In the renal pelvis, bladder, and urethra

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16
Q

ADPKD

A

mutation in PDK1/2 gene that is a Ca2+ channel. Decreased Ca2+ leads to weird function in the presence of cAMP. This causes fluid secretion/cyst formation

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17
Q

FHH

A

defective Ca2+ sensing receptor. will see increased PTH with decreased urine Ca2+

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18
Q

primary hyperparathyroidism

A

increased PTH with increased urine Ca2+

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19
Q

polyglandular autoimmune syndrome Type I

A

candidiasis and hypothyroidism. Addison’s disease can be a type of PAS. autosomal recessive mutation in the AIRE gene.

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20
Q

Sheehan Syndrome

A

infarct of the pituitary gland. seen in pregnant women

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21
Q

GnRH receptor mutation

A

decrease in gonadotropin leading to hypogonadism

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22
Q

gigantism/acromegaly

A

anterior pituitary tumor increasing GH levels. before puberty is gigantism, after puberty is acromegaly

23
Q

craniopharyngioma

A

remnant of Rathke’s pouch. Causes hormone deficits, headaches, vision loss. wet keratin

24
Q

Rathke’s cleft cyst

A

ciliated cuboidal epithelium. can compress pituitary gland. difficult to remove

25
Waterouse-Friedrichsen Syndrome
acute, massive hemorrhage, common following meningitis
26
Addison's disease
primary adrenal insufficiency. Increased ACTH, but decreased cortisol. increased melanin, hypotension, weakness, low libido, poor stress and infection response
27
Cushing's syndrome/disease
increased ACTH/cortisol levels. disease is because of a pituitary adenoma. syndrome can be caused by adrenal adenoma, adrenal carcinoma, small cell lung cancer paraneoplastic syndrome, excessive steroid use.
28
Pheochromocytoma
HTN, sweating, and headache. MEN2. tumor of the adrenal medulla chromaffin cells
29
Hashimoto Thyroiditis
most common in US females. autoimmune to thyroglobulin and/or follicle cells. causing hypothyroidism
30
Cretinism
iodine deficiency during pregnancy. causes retardation and slow growth. causing hypothyroidism
31
Graves Disease
stimulating IgG to TSH receptor causing unregulated T3/T4 release. Hyperthyroidism
32
Toxic nodular goiter
most common in the elderly. hyperfunctioning goiter
33
MEN1 syndrome
Werner's syndrome. AD mutation of a tumor suppressor gene. predisposition to tumors of the parathyroid, pituitary, pancreas, and duodenum
34
MEN2 syndrome
GOF mutation in the RET oncogene. Commonly associated with pheochromocytomas
35
Pituitary apoplexy
massive hemorrhage of the pituitary gland
36
Minimal change disease
nephrotic syndrome. most common in children. effacement of foot processes. no immune complex deposition. Treatment = steroids
37
FSGS
nephrotic syndrome. most common in hispanics and AA's. focal and segmental sclerosis. effacement of foot processes. no immune complex deposition. does not respond to steroids
38
membranous nephropathy
nephrotic syndrome. thick GBM. immune-complex deposition. "spike and dome" appearance because of sub-epithelial deposits
39
membranoproliferative glomerulonephritis
nephrotic syndrome. thick capillary membranes. "tram-track" appearance because of double contours. immune-complex deposition. Type 1: subendothelial. Type 2: within the GBM.
40
Systemic amyloidosis
nephrotic syndrome. amyloid deposits in the mesangium. apple-green bifringence under polarized light. commonly AL (amyloidosis from Ig light chain)
41
post-streptococcal glomerulonephritis (PSGN)
nephritic syndrome. after infection. C3 deposition. Subepithelial humps, but go away on their own. crescents
42
RPGN
nephritic syndrome. includes SLE, Goodpasture's, Wegener's, MPA, and Churg-Strauss.
43
SLE
"full house" deposition including C3, C1q, IgG, IgA, and IgM. ANA+. auto Ig's to RNA/DNA
44
Goodpasture's
linear deposition. more common in men. IgG to COL4A3. capillaries. Can see pulmonary issues as well
45
Wegener's Granulomatosis
C-ANCA. granulomas and vasculitis. sinus symptoms
46
Churg-Strauss
P-ANCA. asthma, eosinophlia, and granulomas
47
MPA
P-ANCA. vasculitis
48
IgA nephropathy
More common in children. After URTI. mesangial expansion
49
Fanconi's Syndrome
Proximal tubule disorder. hypokalemia. polyuria/polydipsia. hypophosphatemia (Ricketts/osteomalacia), glucosuria. linked to heavy metal exposure. Caused by glycogen storage disease and WIlson's
50
Bartter's Syndrome
Loop of Henle disorder. Inhibits the NKCC. hyponatremia and hypokalemia. increased renin and aldosterone. metabolic alkalosis because the increased aldosterone activates H+ ATPases.
51
Gittelman's Syndrome
Distal tubule disorder. Inhibits the Na+/Cl- channel. hyponatremia and hypokalemia. hypercalcemia.
52
Little's Syndrome
Collecting Duct disorder. Activating mutation of ENaC. hypernatremia. decreased renin and aldosterone. metabolic acidosis. HTN.
53
Conn's syndrome
hyperaldosteronism. Caused by an aldosterone-secreting tumor. HTN, hypokalemia, metabolic alkalosis, decreased renin
54
Henoch Schonlein Purpura
Type if IgA nephropathy more common in kids. systemic. rash and stomach will hurt

Renal Endocrine (2 decks)

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