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Clinical Systems 2013 Block Ia
n/a
251
Medical
Graduate
01/27/2013

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Cards

Term
What is osmalality?
Definition
A solute content of a body of water
Term
Na+ concentration disorders are usually due to what?
Definition
Abnormal water balance
Term
What are the general characteristics of a Na+ concentration disorder
Definition
Serum Na+ <130, treatement depends on underlying cause, Frequent in hospitalized patients on IV
Term
What is the single best test to order when faced with hyponatremia?*
Definition
Serum osmolality
Term
What constitutes isotonic hyponatremia?
Definition
Serum osmolality of 285-295 or normal osmolality, exhibits hyperproteinemia or hyperlipidemia
Term
What constitutes hypertonic hyponatremia?
Definition
Serum osmolality >295, elevated osmolality showing hyperglycemia, mannitol, sorbitol, or radiocontrast dyes
Term
What is "true hyponatremia""?
Definition
Hypotonic hyponatremia with a serum osmolality <280
Term
What is the most common form of hyponatremia?
Definition
Hypotonic hyponatremia ("true hyponatremia")
Term
What are the three forms of hypotonic hyponatremia?
Definition
Hypovolemic, Euvolemic, Hypervolemic
Term
What might cause hypovolemic hypotonic hyponatremia
Definition
Extrarenal salt loss or renal salt loss due to diuretics, ACI-I, dehydration, etc.
Term
What might cause euvolemic hypotonic hyponatremia?
Definition
Postoperative hyponatremia, hypothyroidism, psychogenic polydipsia, beer potomania, drug reactions, endurance exercise
Term
What might cause hypervolemic hypotonic hyponatremia?
Definition
CHF, liver disease, nephrotic syndrome, or renal failure
Term
How do you treat asymptomatic hyponatremia?
Definition
Fluid restriction, normal saline infusion, diuretics, demeclocycline, fludrocortisone, or vasopressin antagonists
Term
How do you treat symptomatic hyponatremia?
Definition
Same as asymptomatic but give HYPERTONIC saline (3%) at a rate of 1mEq/L/hr
Term
Increased Uosm >400 in hypernatremia is indicative of what?
Definition
Renal concentration is preserved
Term
Decreased Uosm <250 in hypernatremia is indicative of what?
Definition
Central or nephrogenic diabetes insipidus
Term
What causes central diabetes insipidus?
Definition
Absence or decrease of ADH
Term
What causes nephrogenic diabetes insipidus?
Definition
Renal tubular insensitivity to ADH
Term
How do you treat hypernatremia?
Definition
Correct fluid loss over 48hrs, if hypervolemic give D5W with Lasix, no Lasix if Euvolemic, and D5NS to replace volume followed by D5W as needed if Hypovolemic
Term
Adrenal cortex zones?
Definition
GFR // Ald Cort And
Term
What is adrenal insufficiency?
Definition
Insufficient secretion of adrenal hormones, usually both glucocorticoids and mineralcorticoids
Term
What is the difference between type I and type II adrenal insufficiency?
Definition
I = Autoimmune polyglandular failure syndrome
II = Schmidt's syndrome
Term
What is the primary cause of adrenal insufficiency?
Definition
Addison's disease
Term
What are the signs and symptoms of adrenal insufficiency
Definition
Weakness, abdominal pain, fever, headache, progression to coma, nausea, low BP can progress to SHOCK, dehydration, hypoglycemia
Term
How do you treat an adrenal crisis?
Definition
CANNOT BE DELAYED, give high flow IV NS infusion, Vasopressors as needed, and broad spectrum antibiotics that cover Neisseria
Term
What are the signs of chronic adrenal insufficency?
Definition
Others alongside anorexia, weight lause, myalgia, arthralgia, sparse axillary hair, increased pigmentation of flexors, nevi, emotional changes
Term
How do you diagnose adrenal insufficiency?
Definition
Corsyntropin stimulation test after fasting cortisol. Cortisol should rise to at least 20mcg/dL or higher above baseline. ACTH will be elevated in primary, lower in secondary
Term
How do you treat renal insufficiency?
Definition
Hydrocortisone for life, florinef, DHEA if serum levels are elevated
Term
What causes congenital adrenal hyperplasia?
Definition
Elevated ACTH, leads to overproduction of DHEA, adrostenedione, progesterone, and 17-hydroxyprogesterone
Term
The vast majority of congenital adrenal hyperplasia is due to what?
Definition
21-hydroxylase deficiency which causes deficient cortisole and aldosterone
Term
How do you diagnose congenital adrenal hyperplasia?
Definition
Plasma 17-hydroxyprogesterone >200ng/dL, elevates after cortisol stimulation
Term
How do you treat adrenal hyperplasia?
Definition
Replace cortisol and aldosterone, suppress androgens with flutamide and an aromatase inhibitor
Term
What causes hyporoeninemic hypoaldosteronism?
Definition
Decreased renin secretion from kidneys, exhibits non-gapped metabolic acidosis, can bec aused by NSAIDs, ACE-I, and B-Blockers
Term
How do you treat hyporoeninemic hypoaldosteronism?
Definition
Fludrocortisone or midodrine (an alpha agonist)
Term
What is Cushing's Syndrome?
Definition
Isolated hypersecretion of cortisol or via exogenous administration
Term
The majority of Cushing's Syndrome cases are due to what?
Definition
ACTH hypersecretion, most often through pituitary hypersecretion. May also be secreted in small cell lung cancer
Term
All ACTH independent cases of Cushing's Syndrome are due to what?
Definition
Adrenal adenoma or carcinoma
Term
What is the difference between Cushing's disease and Cushing's syndrome?
Definition
Disease meanst here is an ACTH producing pituitary tumor
Term
What are the symptoms of Cushing's?
Definition
Central obesity, moon face, buffalo hump, muscle wasting, bruising, hursutism, osteoporosis, HTN, delayed healing, diabetes
Term
How do you diagnose Cushing's?
Definition
Dexamethasone suppression test given at bedtime followed by a morning cortisol level draw. You can also use 24hr urine observation
Term
How do you treat Cushing's?
Definition
Remove offending tumor and supplement with replacement therapy if necessary. Ketoconazole, metyrapone, or octreotide can suppress ACTH
Term
What is Nelson's syndrome?
Definition
Rapidly enlarging pituitary tumor causing loss of feedback from unopposed ACTH. Results following a bilateral adrenalectomy,treated with pituitary resection or radiation suppresssion
Term
Hyperaldosteronism is most often due to what?
Definition
Adrenal adenoma 1st, hyperplasia 2nd
Term
What are the symptoms of hyperaldosteronism?
Definition
Hypertension, polyuria, polydipsia, muscle weakness/parasthesias, headache, hypokalemia, metabolic alkalosis
Term
What kind of labs indicate hyperaldosteornism?
Definition
Hypokalemia with hypertension combined with a high sodium intake. Aldosterone levels will be high
Term
How is hyperaldosteronism treated?
Definition
Excision of tumor or spironolactone for bilateral adrenal hyperplasia
Term
What characterizes adrenal medulla hyperfunction?
Definition
Norepinephrine, epinephrine, or dopamin excess
Term
How is adrenal medulla hyperfunction treated?
Definition
Removal of offending tumor and replacement therapy
Term
What is pheochromocytoma?
Definition
A rare condition where hypertension is caused by excessive amounts of plasma norepinephrine
Term
What is the most common cause of pheochromocytoma?
Definition
Adrenal medulla tumors
Term
What are the symptoms of pheochromocytoma
Definition
Headache, diaphoresis, palpitations, anxiety, tremor, PAROXYSMAL HTN!!, retinal hemorrhage, CVA, postural HTN
Term
How is pheochromocytoma diagnosed?
Definition
Plasma fractionated free metanephrines, urine analysis following an attack, clonidine suppression test, CT or MRI imaging to locate tumors, treated with excision
Term
What might cause lab errors in the detection of pheochromocytoma?
Definition
Drugs, foods, is common, appears similar to cocain or amphetamine use
Term
What causes Marfan's syndrome?
Definition
Autosomal dominant mutation on chromosome 15 coding for fibrillin-1. A minority due to inactivating mutation in TGFBR
Term
What are the symptoms of Marfan's?
Definition
Tall stature, long limbs, thin digits, pectus carinatum, scoliosis, kyphosis, hindfoot valgus, joint hypermobility, ocular problems, repeated pneumothorax
Term
What kind of ocular problems occur in Marfan's
Definition
Superiorly displaced lens, retina detachment or tears (bilateral), risk of glaucoma and early cataracts
Term
What is the Marfan's criteria ("Ghent nosology")?
Definition
Used in the absence of a family history of MFS to diagnose. An aortic diameter 7>2 or aortic root dissection coupled with ectopic lentis, a FBN1 mutation or a systemic score >7 is diagnostic. Ectopic lentis combined with an FBN1 mutation and an aortic aneurysm is also diagnostic
Term
In the presence of a family history for Marfan's, what criteria is necessary to make a diagnosis?
Definition
Ectopic lentis, a systemic score >7, aortic criterion (diameter 7>2 if 20yo+, 7>3 if 20yo-, or aortic root dissection)
Term
What kind of diagnostic tests could you perform to determine Marfan's?
Definition
Ophthalmic exam with dilation, transthoracic echocardiogragm at time of diagnosis and 6 months after
Term
How do you treat Marfan's?
Definition
Prophylactic beta-blockers to slow rate of aortic dilation, surgical repair when aortic diameter is 5cm, orthoscopy on knees, physical therapy, etc
Term
What causes Ehlers-Danlos (EDS)?
Definition
A defect in collagen and other ECM proteins causing fragility of tissues, joint hypermobility, skin laxity, and atrophic skin
Term
How is hypermobility determined?
Definition
Via the Beighton hypermobility score. >4pts indicates hypermobility
Term
Which type of EDS cannot be distinguished from generalized joint hypermobility?
Definition
Type III due to the absence of skin findings
Term
What is vascular EDS?
Definition
Characterized by spontaneous rupture of large arteries and hollow organs, shows thickened arteries and is a concern in pregnancy
Term
What is kyphoscoliotic EDS?
Definition
EDS with cardiovascular features such as aortic root dilation and aortic regurgitation as well as progressive scoliosis
Term
How is EDS treated?
Definition
Supportive, high doses of Vit C if kyphoscoliotic, cardioselective beta blockers, genetic counseling
Term
What causes Osteogenesis Imperfecta?
Definition
Autosomal dominant mutations in COL1A1 which code for type I collagen
Term
What are the symptoms of osteogenesis imperfecta?
Definition
Excessive atypical features, short stature, scoliosis, blue sclerae, hearing loss, opalascent teeth, wormian bones, bruisability. Ca and phosphate are typically normal
Term
Describe type II osteogenesis imperfecta
Definition
Most severe, infants are stillborn or die soon after due to respiratory failure or multiple fractures
Term
Describe type III osteogenesis imperfecta
Definition
Severe bone deformity and compromised stature, limited mobility, respiratory complications, compressed brain stem and craniocervical junction
Term
Describe type IV osteogenesis imperfecta
Definition
Reduced stature with some bone deformity and abnormal teeth. Sclera is NORMAL
Term
What is the most common type of osteogenesis imperfecta?
Definition
Type I, least severe, blue or gray sclera, risk of fracture reduces during adulthood until menopause, hearing impairment is common
Term
How do you treat osteogenesis imperfecta?
Definition
Bisphosphonates to increase BMD, rods in long bones, physical therapy, genetic counseling
Term
What causes Pseudoxanthoma Elasticum?
Definition
A typically autosomal recessive mutation in ABCC6 on chromosome 16 which causes progressive calcification and fragmentation of elastic fibers
Term
What are the symptoms of Pseudoxanthoma Elasticum?
Definition
Manifestations in all elastic tissues, skin, eyes, vasculature, causes yellowish papules in flexor surfaces with a plucked chicken look, mottled retina, visual loss, accelerated atherosclerosis, artery occlusion, hypertension
Term
How is Pseudoxanthoma Elasticum treated?
Definition
Avoid gastric irritants, monitor for cardiac conditions, genetic counseling
Term
What are the parameters defining hypertension?
Definition
Normal: <120/80
Prehypertension: <140/90
Stage I: <160/100
Stage II: >160/100
Term
What is essential hypertension?
Definition
AKA primary or idiopathic, has unknown cause
Term
What are the parameters that determine obesity?
Definition
Overweight = BMI 25-29.9
Obese = BMI >30
Term
What type of heart manifestations arise due to hypertension?
Definition
Left ventricular hypertrophy, PMI displacement, murmuers, bruits, CHF, arrhythmias, MI
Term
What kind of kidney manifestations arise due to hypertension?
Definition
Nephrosclerosis, more common in African Americans
Term
What is the goal BP in chronic kidney disease?
Definition
<130/80
Term
What kind of eye manifestations arise due to hypertension?
Definition
Narrowing of the arterial diameter causes AV nicking, a copper wire appearance, papilledema, and exudates and hemorrhages
Term
What do you give for kidney manifestations of hypertension?
Definition
ACE-I or ARB unless Cr >30% baseline
Term
What is the most common secondary cause of hypertension?
Definition
Chronic renal disease
Term
When should chronic renal disease be suspected?
Definition
When renal insufficiency accompanies hypertension, proteinuria is found on the dipstick, and creatinine is elevated >1.2 in women or 1.4 in men
Term
What is renovascular hypertension?
Definition
HTN caused by decreased perfusion of the renal tissue due to stenosis of main or branching renal arteries which activated the RAA system
Term
When should renovascular hypertension be suspected?
Definition
If onset is before 20 or after 50, the HTN is resistant to 3 or more drugs, renal artery bruits, atherosclerotic disease is present, abrupt deterioration of renal function after ACE-I or ARB use, pulmonary edema associated with BP surges
Term
How is renovascular hypertension diagnosed?
Definition
Duplex doppler ultrsound, CT or MR angiography, ACE-I renography
Term
How does pheochromocytoma cause HTN?
Definition
Catecholamine producing tumor is suspected alongside HTN with episodic palpitaations. Requires both alpha and beta blockade
Term
How does hyperaldosteronism cause HTN?
Definition
Excessive aldosterone >30
Term
What is resistant hypertension?
Definition
Failure to meet BP control in patients who are adherent to full doses of an appropriate 3-dose regiment
Term
What does HTN increase with age?
Definition
Reduced elasticity and compliance of large arteries, atherosclerosis associated accumulation of calcium and ollagen, degradation of arterial elastic, give diuretics, ACE-I, ARB, B-Blockers, Ca++ Channel Blockers
Term
Hypertension in adolescents requires what for diagnosis?
Definition
High BP on 3 or more separate occasions
Term
Which hypertension drugs are contraindicated in pregnancy?
Definition
ACE, ARB, and Renin blockers
Term
What is chronic hypertension?
Definition
BP >140/90 prior to pregnancy or before 20 wks gestation
Term
What is gestational hypertension?
Definition
HTN w/o proteinuria after 20 wks gestation
Term
What is pre-eclampsia?
Definition
HTN and proteinuria after 20 wks gestation in a previously normotensive patient
Term
What is HELLP?
Definition
Hemolysis, elevated liver enzymes, and low platelets
Term
How do you treat hypertension in pregnancy?
Definition
Methyldopa, Ca++ channel blockers, labetalol
Term
What is the first line treatment for diabetes induced hypertension?
Definition
ACE inhibitors, ARB if ACE-I is not well tolerated or contraindicated as in angioedema
Term
What would be reason to stop ACE-I or ARB administration in diabetes induced hypertension?
Definition
Increased creatinine and potassium levels >30% or hyerpkalemia
Term
What is considers a hypertensive emergency?
Definition
BP >180/110, must lower within 24-48 hrs, goal is 10-15% reduction over 30-60minutes
Term
What might be the chief complaints in a patient undergoing a hypertensive emergency?
Definition
Chest pain, dyspnea, neurologic deficit, blurred vision, headache
Term
What is a DASH diet?
Definition
A Dietary Approach to Stop Hypertension, aims to reduce SBP by 6mm Hg
Term
What are the characteristics of Thiazide diuretics when used to treat hypertension?
Definition
Contraindicated in gout and erectile dysfunction, often used for stage 1 HTN, more potent in blacks and elderly, has cross sensitivity to sulfonamides except Ethacrynic acid
Term
What are the characteristics of loop diuretics when used to treat hypertension?
Definition
Includes Furosemide, Ethacrynic acid, and Bumetabide, better in patients with renal insufficiency, may cause hypokalemia so potassium supplements may be necesary
Term
What are the characteristics of Triamterene and Amiloride when used for hypertension?
Definition
Are potassium sparing diuretics, can cause hyperkalemia or kidney stones, contraindicated in elevated k+
Term
What are the characteristics of Spironolactone and Eplerenone when used for hypertension?
Definition
Potassium sparing, mineral corticoid receptor antagonist diuretics, used for CHF and resistant hypertension, contraindicated in elevated K+, may cause gynecomastia
Term
When are beta blockers used to treat hypertension?
Definition
In patients with MI, angina, or migraine headache. Contraindicated in heart block, asthma, COPD, depression, and amphetamine use. Cautioned in type I diabetes
Term
What are the characteristics of Ca++ channel blockers used in the treatment of hypertension?
Definition
Amlodipine, Nifedipine, Felodipine, etc, causes peripheral vasodilation, useful in blacks and elderly, do NOT use as monotherapy if proteinuria is present, do not mix with grapefruit
Term
What are the characteristics of ACE inhibitors used in the treatment of hypertension?
Definition
Benazepril, Captopril, Enalapril, etc. Used for diabetes and CHF associated HTN, contraindicated in pregnancy, bilateral renal stenosis, and hyperkalemia
Term
What are the characteristics of angiotensin receptor blockers (ARBs) used to treat hypertension?
Definition
Candesartan, Irbesartan, Losartan, Valsartan, etc., used in diabetes and CHF induced HTN, contraindicated in pregnancy, bilateral renal stenosis, and hyperkalemia
Term
What are the characteristics of the alpha-blockers used in the treatment of hypertension?
Definition
Prazosin, Terazosin, Doxazosin, etc., lowers peripheral vascular resistance, not first line, used with urinary outflow obstructions, contraindicated in left ventricular dysfunction
Term
What drug is used in EtOH withdrawal induced hypertension?
Definition
Clonidine
Term
What central alpha andrenergic agonist is used to treat hypertension in pregnant women?
Definition
Methyldopa
Term
Beta Blockers are used to treat hypertension alongside what comorbidities?
Definition
Heart failure, post MI, high CVD risk
Term
ACE Inhibitors are used to treat hypertension alongside what comorbidities?
Definition
Heart failure, post MI, diaetes, chronic kidney disease, recurrent stroke prevention
Term
Angiotensin Receptor Blockers (ARBs) are used to treat hypertension alongside what comorbidities?
Definition
Heart failure, diabetes, chronic kidney disease
Term
Aldosterone antagonists are used to treat hypertension alongside what comorbidities?
Definition
Heart failure, post MI
Term
Thiazides are used to treat hypertension alongside what comorbidities?
Definition
Heart failure, high CVD risk, diabbetes, recurrent stroke prevention
Term
Ca++ Channel blockers are used to treat hypertension alongside what comorbidities?
Definition
High CVD risk, diabetes
Term
What drugs can cause an increase in blood pressure?
Definition
Oral contraceptives and NSAIDS as well as EtOH and sympathomimetics such as meth
Term
What does ABCD and HE MAN stand for (treatments for HTN)
Definition
ACEI/ARB, B-Blockers, Ca++ Ch blockers, Diuretics, Hydralzine, Eplerenone/spironolactone, Minoxidil, Alpha blockers, Nitrates
Term
What is osteoporosis?
Definition
The MOST COMMON bone disorder characterized by low bone mass and microarchitectural deterioration of bone tissue, more common in white and asian women
Term
Bone mass density loss reflects what?
Definition
An imbalance between resorption and formation
Term
How is estrogen related to osteoporosis?
Definition
Estrogen reduces bone resorption, lack of estrogen such as in menopause contributes to osteoporosis
Term
What is the rate of bone loss during menopause?
Definition
2.5% per year for 2-5 years following menopause with a gradual tapering afterwards
Term
What are the nonmodifiable risk factors for osteoporosis?
Definition
Age, female gender, history of fracture, family history, GI disease
Term
What are the modifiable risk factors for osteoporosis?
Definition
Low body weight, estrogen deficiency, poor nutrition, smoking, alcohol, sedentary lifestyle, low calcium, hyperthyroidism, hypercortisolism, hyperparathyroidism
Term
What are the most morbid and deadly type of fracture?
Definition
Hip fracture
Term
What is the most common type of fracture?
Definition
Vertebral fracture, 2/3 of all fractures are silent
Term
What measures can be taken to prevent osteoporosis?
Definition
Adequate dietary Ca++ and vit D, phosphorus, and magnesium. Exercise!
Term
How is osteoporosis diagnosed?
Definition
DEXA scan following an acute fracture
Term
A DEXA scan measures what?
Definition
Bone density, not quality, via detecting changes in trabecular bone central measurements are more reliable
Term
What is a T-score on a DEXA scan?
Definition
Compared current BMD to mean peak BMD of normal young adults of the same gender. Normal = above 1 stdev, Osteopenia = 1 to -2.5 stdev, Osteoporosis = below 2.5 stdev, used in postmenopausal women
Term
What is a Z score on a DEXA scan?
Definition
Based on the difference between an individuals BMD and the mean of reference population of same gender, age, ethnicity, used in premenopausal women under 50
Term
DEXA is recommended for whom?
Definition
Women over 65, men over 70, women under 65 w/1 or more risk factor, postmenopausal womenw ith fractures
Term
How do you treat osteoporosis?
Definition
Ca++, vit D, exercise, estrogen modulaters, terparatide (PTH), calcitonin, estrogen, Denosumab, bisphosphonates
Term
What are the characteristics of Central Diabetes Insipidus
Definition
No secretion or production of ADH. Primary is idiopathic, secondary is due to trauma to the hypothalamus or pituitary stalk
Term
What are the characteristics of vasoprssinase induced diabetes insipidus?
Definition
Occurs in 3rd trimester of prgnancy accompanied by oligohydramnios, preeclampsia, and hepatic dysfunction, An enzyme within the blood destroys native vasopressin
Term
What are the characteristics of nephrogenic Diabetes Insipidus?
Definition
A defect in kidney tubules interferes with response to ADH and water resorption. Congenital due to aberrant expression of renal vasopressin V2 receptors
Term
What can cause nephrogenic D.I.?
Definition
Acquired through pyelonephritis, amyloidosis, myeloma, Sjogren's syndrome, SICKLE CELL**, or use of corticosteroids, demeclocycline, lithium, foscarnet, or methicillin
Term
What is the difference between diabetes insipidus and primary polydipsia?
Definition
DI prefers cold beverages and results in urine osmolarity that is LESS than plasma, unlike polydipsia
Term
What would you expect in a water depletion test in individuals with diabetes insipidus?
Definition
High dilute urine output with suppressed ADH levels if central, normal or increased levels of nephrogenic
When ADH is administered after urine omsolarity plateau, central DI urine osmolarity increases above plasma, nephrogenic DI increases by < 50%
Term
When should you stop administering a water depletion test?
Definition
If the patient goes hypertensive
Term
How do you treat central Diabetes Insipidus?
Definition
DDAVP aka Desmopressin
Term
Now do you treat nephrogenic Diabetes Insipidu?
Definition
Treat underlying cause, maintain sodium and water balance
Term
What are the characteristics of inappropriate ADH secretion?
Definition
Water retention, hyponatremia, decreased plasma osmolarity, urine osmolarity is inappropriately concentrated in relation to low plasma osmolarity, is higher than plasma
Term
How is inappropriate ADH secretion diagnosed?
Definition
In the absence of nephrogenic syndrome, cirrhosis, or CHF
In the presence of normal renal, adrenal, and thyroid function
Term
What causes inappropriate ADH secretion?
Definition
Small cell cancer, Tb, pneumonia, abscess, meningitis, head trauma, tumors, lymphoma, etc.
Term
How do you treat inappropriate ADH secretion?
Definition
Restrict fluids
Term
What is oxytocin used for?
Definition
Inducing labor and controlling post-partum uterine hemorrhage, induces the secretion of vasopressin in response to low pressure atrial volume receptors
Term
What is Hemochromatosis?
Definition
Disorder of iron metabolism and deposition characterized y excessive Fe absorption
Term
What causes Hemochromatosis?
Definition
HFE gene mutation, usually an autosomal recessive mutation
Term
What are the clinical manifestations of hemochromatosis?
Definition
Hepatomegaly, cirrhosis, diabetes, GRAY HYPERPIGMENTATION, arthropathy, pseudogout, cardiac involvement, hypogonadism, increased risk of infection
Term
What is the classic presentation of hemochromatosis?
Definition
Cirrhosis, bronzed diabetes, and grey skin hyperpigmentation
Term
Due to awareness, what has become the typical presentation for hemochromatosis?
Definition
Fatigue, impotence, destructive arthropathy in the 2nd or 3rd metacarpophalangeal joints
Term
What is the best screening test for hemochromatosis?
Definition
>45% transferrin saturation, is more common in men, 20-40% is normal
Term
What is the gold standard for diagnosing hemochromatosis?
Definition
Liver biopsy for ferritin >1000 (otherwise not required_
Term
How is hemochromatosis treated?
Definition
Phlebotomy every week until ferritin <50ng/ml
Desferoxamine if iron overload is secondary due to dyserythropoiesis
Avoid vitamin C supplements! Liver transplants don't work
Term
What are the characteristics of Wilson's disease?
Definition
Defective exretion of copper due autosomal recessive mutation in gene ATP7b
Term
How is copper normally metabolized?
Definition
Absorbed in small intestine, stored in liver, bound in serum to ceruloplasmin, excreted into bile canaliculi
Term
What are the symptoms of Wilson's disease?
Definition
Coomb's negative hemolytic anemia, nephrolithiasis, cardiac arrhythmias, rabdomyolysis arthralgia, endocrine dysfunction, Kayser-Fleischer ring in the cornea**, face of a giant panda on MRI
Term
How is Wilson's disease treated?
Definition
Lifelong treatment, low copper diet, D-penicillamine, zine acetate/sulfate to produce copper chelator metallothionein, vitamin E to reduce oxydative damage
Term
What is Fulminant Wilson's disease?
Definition
Severe hemolytic anemia accompanying Wilson's disease, liver transplant is only treatment/cure
Term
What are porphyrias?
Definition
Genetic acquired disease associate dwith enzyme deficiencies in the heme synthesis pathway
Term
What are the two classes of porphyrias?
Definition
Bone marrow (85%) and hepatic
Term
What defines acute intermittent porphyria?
Definition
Autosomal dominant, has 50% or greater deficiency of porphobilinogen deaminase, causing the accumulation of ALA and BPG. Causes abdominal pain, neuropathy, sympathetic tone, CNS symptoms
Term
What can trigger a porphyria attack?
Definition
Parbituates, carbamazepine, sulfonamides, estrogens, ethanol, caloric restrictions, stressors
Term
How do you treat acute intermittent porphyria?
Definition
Opiates, beta blockers, hematin to reduce duration and severity, increased CHO intake to amerliorate attacks
Term
What defines porphyria cutanea tarda?
Definition
Uroporphyrinogen decarboxylase deficiency, is the most common porphyria
Term
How does Porphyria Cutanea Tarda manifest?
Definition
Accumulation of uroporphyrinogen in skin as it absorbs light, causes vesicles, bullae, fragile skine. Triggered by alcohol, hormones, iron overload (hemochromatosis), hep C
Term
How do you treat porphyria cutanea tarda?
Definition
Avoid triggers, phlebotomy, hematin, and chloroquine. Monitor total plasma porphyrin concentration and follow hematocrit and ferritin to prevent Fe-deficiency anemia
Term
What causes erythropoietic porphyria?
Definition
A ferrochelatase deficiency that causes the accumulation of protoporphyrin in response to brief sun exposure
Term
Lead exposure is accumulated with what?
Definition
Neurotoxicity, bone marrow and renal toxicity, hypertension, low birth weight, developmental defects
Term
How do you treat lead poisoning?
Definition
Chelation with DMSA, edentate calcium disodium, dimercaprol
Term
How does mercury poisoning progress?
Definition
INhalation, pneumonitis, noncardiogenic pulmonary edema, death. Birth exposure causes poor neurobehavioral performance or derangement
Term
How is mercury poisoning treated?
Definition
Emesis, gastric lavage, dimercaprol, DMSA, penicillamine
Term
How does symptomatic renal disease present?
Definition
High BP, Edema, Gross Hematuria, “bubbly urine” (Proteinuria or nephrotic)
Term
What is the first step in the evaluation of renal disease and nephrology?
Definition
A Careful Urinalysis
Term
What do you use to stage the patient during evaluation of renal disease?
Definition
GFR
Term
How long does acute renal failure last?
Definition
< 1mo
Term
How long does chronic renal failure last?
Definition
> 1mo
Term
What qualifies as end stage renal disease?
Definition
GFR <15ml/min
Term
What are the characteristics of acute renal failure?
Definition
Acute rise in BUN and creatinine, decreased GFR, reversible, usually due to renal insult
Term
What are the characteristics of chronic renal failure
Definition
Progressive loss of renal function, history of renal disease, previously documented BUN/Creatinine rise, small kidneys, irreversible, end stage renal disease
Term
When do kidneys reach their peak GFR?
Definition
40yo, declines 1cc/min per year thereafter
Term
What is the difference between azoetemia and uremia?
Definition
Both have increased BUN and creatine but uremia is symptomatic and signified end stage renal disease
Term
What is oliguria? Anuria?
Definition
Oliguria is decreased urine output (500cc is normal), anuria is almost zero urine output
Term
What are the indications for dialysis
Definition
Poisoning, uremia, uremic encephalopathy, fluid w/ pulmonary edema, CHF, acidosis, hyperkalemia, pericarditis
Term
Urinalysis is also colloquially referred to as what?
Definition
"A poor man's renal biopsy"
Term
What constitutes abnormal proteinuria?
Definition
>150 mg/24hr urine
Term
What is nephrotic syndrome?
Definition
Proteinuria with >3.5gm/24hr urine
Urine is usually bubbly
Term
What is known as the index of overall renal function?
Definition
GFR
Term
What is the best test for measuring GFR?
Definition
Inulin test, is costly
Term
What is the most common test used for measuring GFR?
Definition
Creatine Clearance Test
CrCl = [(140-age) x KBW]/(72 x Creatinine) x 0.85 for females
Term
What radionuclide study assesses functional renal mass?
Definition
Technetium dimercaptosuccinate
Term
What radionuclide study assesses renal plasma flow
Definition
Radioiodinated orthoiodohippurate
Term
What are the characteristics of renal ultrasounds?
Definition
non-invasive, no contrast, assess size & # of kidneys, mass/cyst, assess obstruction, screen congenital diseases i.e. PCKD, evaluate perirenal space, guide in invasive procedures: biopsy, assess bladder for urinary retention: post void residual volume, Assess calculi
Term
What is the function of Intravenous Pyelography?
Definition
Assess function & structure of the urinary tract. Is unfortunately very nephrotoxic, IV contrast is preferred
Term
What are the pros and cons of CT vs. MRI renal studies?
Definition
CT for masses, MRI for solid lesions
Term
What are the indications for performing a renal biopsy?
Definition
Unexplained ARF, Unexplained hematuria, Nephrotic/Nephritic syndrome, Treatment guidelines i.e.SLE, Suspect renal transplant rejection*
Term
What is Microscopic Hematuria?
Definition
More than 2 RBCs per HPF in microscopic examination of urine
Term
What causes microscopic hematuria?
Definition
Red cells lyse when urine is spun, hence lower numbers in centrifuged urine. HPF’s are given in ranges since different fields will have a different RBC count. No truly normal number of RBC’s in urine except zero
Term
What are the risk factors for urothelial (transitional cell) carcinoma?
Definition
Age, Male sex, Cigarette smoking, Occupational carcinogen exposure, Aristolochic acid, Radiation, Analgesics, upper urinary tract cancer
Term
What is gross hematuria?
Definition
red/brown urine. Does not necessarily mean much blood is lost in the urine.
Term
Red urine with no hematuria signifies what?
Definition
Hemoglobin and Myoglobin in the urine (Hemolysis – Rhabdomyolysis)
Term
What are the classic examples of drug-induced red urine?
Definition
Phenazopyridine and rifampine
Term
What would rule out glomerular bleeding?
Definition
The presence of clots, likely source is bladder
Term
What indicates glomerular bleeding?
Definition
The presence of clots
Term
What might cause urine to turn brown?
Definition
The conversion of hemoglobin (red) to methemoglobin (brown) during the long transit time and chemical environment in the tubules
Term
What is the primary concern with CT urography
Definition
A major concern with CTU is the relatively high radiation dose
Term
What is the primary concern with IV pyelograms?
Definition
IV contrast exposure is a concern in patients with abnormal renal function, not performed anymore
Term
What is the best test for looking at renal veins or arteries?
Definition
MRI
Term
Renal cytoscopy is best used for what?
Definition
Very sensitive for malignancies, can visualize the entire bladder. It is the only modality that permits visualization of the prostate and urethra
Term
What three disorders account for most cases of persistent isolated hematuria due to glomerular disease
Definition
IgA nephropathy, Hereditary nephritis (Alport syndrome), and thin basement membrane nephropathy
Term
What is is the most common cause of primary glomerulonephritis?
Definition
IgA nephropathy, more common in females, most common in asians and
Term
The presence of IgA nephropathy is established via what?
Definition
Kidney biopsy
Term
The pathognomonic finding of IgA nephropathy is found how?
Definition
immunofluorescence microscopy
Term
How does IgA nephropathy present?
Definition
One or recurrent episodes of gross (or microscopic) hematuria*, usually following an upper respiratory infection. Also usually has mild proteinuria
Term
How do you treat IgA nephropathy?
Definition
Angiotensin converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARB) both for blood pressure control and to slow progression of the renal disease. Immunosuppressive therapy using glucocorticoids and cytotoxic agents also works
Term
Hereditary Nephritis, aka Alport syndrome, is often accompanied by what seemingly unrelated symptom?
Definition
Sensorineural hearing loss and ocular abnormalities
Term
How does Alport syndrome initially present?
Definition
Asymptomatic persistent microscopic hematuria, which is present in early childhood in affected patients
Term
What causes Alport syndrome?
Definition
X-linked basement membrane disorder arising from mutations in genes encoding several members of the type IV collagen protein family
Term
What is characteristic of thin basement membrane nephropathy?
Definition
Persistent or intermittent asymptomatic microscopic hematuria, long-term prognosis is excellent in most patients, relatively benign
Term
Exercise-induced gross hematuria should be differentiated from what two other potential causes of red to brown urine following exercise?
Definition
Myoglobinuria due to rhabdomyolysis and march hemoglobinuria (soldiers marching for a long time may cause enough trauma to the RBCs)
Term
When is evaluation of exercise induced hematuria warranted?
Definition
If age is over 50 or it persists over a week
Term
28 year old man, previously healthy, presented with gross hematuria and severe left flank pain, U/A microscopy reported as packed RBCs and 20 WBCs per HPF, LE positive, Nitrite negative
Definition
Kidney stones
Term
18 year old previously healthy woman presented with Cola-colored urine, BP:185/92cr:2.8, had a sore throat 9 days ago, urine shows Acantocytes
Definition
Post-infectious glomerulonephritis
Term
26 year old man, admitted under your service for fever and gross hematuria, he tells you that he gets this “urine infections” whenever he has a cold and it goes away in a few days with Antibiotics, he is under care of a urologist and extensive workup has been inconclusive
Definition
IgA Nephropathy
Term
29 year old healthy pregnant woman, 20 weeks pregnant, comes to your office complaining of seeing clots in her urine, she is anxious otherwise feels ok
Definition
UTI, clots in the urine without other symptoms is the classical presentation of UTI in pregnant women
Term
What is the normal range of serum calcium?
Definition
8.5-10.5 mg/dl
Term
What is the most common cause of outpatient hypercalcemia?
Definition
Primary hyperPTH, more than 1/2 are asymptomatic
Term
What is the primary regulator of VitD absorption and processing?
Definition
PTH
Term
What is the main target of activated VitD?
Definition
Ca++ absorption in the gut
Term
Lack of VitD causes what?
Definition
Secondary hyperparathyroidism
Term
How might you observe both primary and secondary hyperPTH in a patient?
Definition
Gently correct Vit. D deficiency and see how patient respond. If PTH is still elevated, they have both primary and secondary
Term
How are calcium and albumin connected?
Definition
Because calcium is at least 40% protein bound, alteration of serum albumin levels may affect the total calcium reading
Term
What is Milk-Alkalai Syndrome?
Definition
HypoPTH caused by excessive intake of Ca2
Term
How do the majority of hyperPTH patients present?
Definition
Asymptomatically, Renal calculi or nephrocalcinosis as well as hypertension are found in upwards of 50% of symptomatic hyperPTH patients
Term
What is the most common cause of hyperPTH?
Definition
Adenoma
Term
How does MEN I PHP present?
Definition
HyperPTH (>95%), pancreatic (Gastrin or Insulin), pituitary (Prolactin)
Term
How does MEN II PHP present?
Definition
Medullary Thyroid cancer (100%), parathyroid hyperplasia (50-70%) and bilateral pheochromocytomas (50%)
Term
What is the most common cause of hypercalcemia in hospitalized patients?
Definition
Malignancy
Term
What are some rare causes of hypercalcemia?
Definition
Thiazides: lower urinary calcium excretion, HypervitD (both types): increases calcium absorption and promoting bone resorption, Lithium: increases set point for CaSR to suppress PTH
Term
The VITAMIN TRAP mnemonic for hypercalcemia represents what?
Definition
Vitamins, Immobilizatin, Thyrotoxicosis, Addison's, Milk-alkali, Inflammatory, Neoplasm, Sarcoidosis,
Thiazides, Rhabdomyolysis, AIDS, Pagets
and lithium
Term
What is the ONLY cure for primary hyperparathyroidism
Definition
Parathyroidectomy, replace Vit D stores in deficient patients
Term
How doe Calcimimetics help treat hyperparathyroidism?
Definition
Increases the sensitivity of the CaSR to ionized calcium
Term
What might cause a phosphate deficiency?
Definition
Malnutrition, ICU, breast cancer, prostate cancer, DKA treatment via glu 6-phos
Term
What might magnesium depletion cause in long term hospital patients?
Definition
Hypocalcemia
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