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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
Q

Waterouse-Friedrichsen Syndrome

A

acute, massive hemorrhage, common following meningitis

26
Q

Addison’s disease

A

primary adrenal insufficiency. Increased ACTH, but decreased cortisol. increased melanin, hypotension, weakness, low libido, poor stress and infection response

27
Q

Cushing’s syndrome/disease

A

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
Q

Pheochromocytoma

A

HTN, sweating, and headache. MEN2. tumor of the adrenal medulla chromaffin cells

29
Q

Hashimoto Thyroiditis

A

most common in US females. autoimmune to thyroglobulin and/or follicle cells. causing hypothyroidism

30
Q

Cretinism

A

iodine deficiency during pregnancy. causes retardation and slow growth. causing hypothyroidism

31
Q

Graves Disease

A

stimulating IgG to TSH receptor causing unregulated T3/T4 release. Hyperthyroidism

32
Q

Toxic nodular goiter

A

most common in the elderly. hyperfunctioning goiter

33
Q

MEN1 syndrome

A

Werner’s syndrome. AD mutation of a tumor suppressor gene. predisposition to tumors of the parathyroid, pituitary, pancreas, and duodenum

34
Q

MEN2 syndrome

A

GOF mutation in the RET oncogene. Commonly associated with pheochromocytomas

35
Q

Pituitary apoplexy

A

massive hemorrhage of the pituitary gland

36
Q

Minimal change disease

A

nephrotic syndrome. most common in children. effacement of foot processes. no immune complex deposition. Treatment = steroids

37
Q

FSGS

A

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
Q

membranous nephropathy

A

nephrotic syndrome. thick GBM. immune-complex deposition. “spike and dome” appearance because of sub-epithelial deposits

39
Q

membranoproliferative glomerulonephritis

A

nephrotic syndrome. thick capillary membranes. “tram-track” appearance because of double contours. immune-complex deposition. Type 1: subendothelial. Type 2: within the GBM.

40
Q

Systemic amyloidosis

A

nephrotic syndrome. amyloid deposits in the mesangium. apple-green bifringence under polarized light. commonly AL (amyloidosis from Ig light chain)

41
Q

post-streptococcal glomerulonephritis (PSGN)

A

nephritic syndrome. after infection. C3 deposition. Subepithelial humps, but go away on their own. crescents

42
Q

RPGN

A

nephritic syndrome. includes SLE, Goodpasture’s, Wegener’s, MPA, and Churg-Strauss.

43
Q

SLE

A

“full house” deposition including C3, C1q, IgG, IgA, and IgM. ANA+. auto Ig’s to RNA/DNA

44
Q

Goodpasture’s

A

linear deposition. more common in men. IgG to COL4A3. capillaries. Can see pulmonary issues as well

45
Q

Wegener’s Granulomatosis

A

C-ANCA. granulomas and vasculitis. sinus symptoms

46
Q

Churg-Strauss

A

P-ANCA. asthma, eosinophlia, and granulomas

47
Q

MPA

A

P-ANCA. vasculitis

48
Q

IgA nephropathy

A

More common in children. After URTI. mesangial expansion

49
Q

Fanconi’s Syndrome

A

Proximal tubule disorder. hypokalemia. polyuria/polydipsia. hypophosphatemia (Ricketts/osteomalacia), glucosuria. linked to heavy metal exposure. Caused by glycogen storage disease and WIlson’s

50
Q

Bartter’s Syndrome

A

Loop of Henle disorder. Inhibits the NKCC. hyponatremia and hypokalemia. increased renin and aldosterone. metabolic alkalosis because the increased aldosterone activates H+ ATPases.

51
Q

Gittelman’s Syndrome

A

Distal tubule disorder. Inhibits the Na+/Cl- channel. hyponatremia and hypokalemia. hypercalcemia.

52
Q

Little’s Syndrome

A

Collecting Duct disorder. Activating mutation of ENaC. hypernatremia. decreased renin and aldosterone. metabolic acidosis. HTN.

53
Q

Conn’s syndrome

A

hyperaldosteronism. Caused by an aldosterone-secreting tumor. HTN, hypokalemia, metabolic alkalosis, decreased renin

54
Q

Henoch Schonlein Purpura

A

Type if IgA nephropathy more common in kids. systemic. rash and stomach will hurt

Renal Endocrine (2 decks)

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