Ua Final Chapter 7

Front 1

List two ways for disruption of an enzyme function that can result in an overfow disorder?

Back 1

1. inborn error of metabolism (gene)

2. organ malfunction (toxic/diseased)

Front 2

Difference between an overflow disorder and renal type disorder?

Back 2

Overflow = disruption (metabolic)

Renal type = malfunction (tubular reabsorption)

Front 3

PKU smells like? What about the C's?

Back 3

Mousy

C's (cystinosis, cystinuria) - rotten eggs

Front 4

Name the three classifications of major protein or carbohydrate disorders?

Back 4

1. inherited defect

2. metabolic defect

3. renal defect

Front 5

name the four types of amino acid disorders?

Back 5

1. PHE-TYR disorder

2. Branched-chain amino acid disorder (Maple)

3. TRP disorder

4. CYS disorder

Front 6

Genetic defect of PKU

Back 6

failure to inherit gene needed to produce the enzyme PHE hydroxycase

Front 7

What can be detected in urine of patients with PKU? What is detected?

Back 7

keto-acids

phenylpyrivic acid

Front 8

Is tyrosyluria and inherited or metabolic defect?

Back 8

both

Front 9

If diseased, what other organ in the body can produce tyrosyluria?

Back 9

Liver

Front 10

What is the cause of alkaptonuria

Back 10

Failure to inherit the gene needed to produce the enzyme homogentistic acid oxidase. Thus, homogentistic acid accumulates in the blood, tissues, and urine.

Front 11

Symptoms of alkaptonuria

Back 11

brown pigrments become deposited in body tissue-especially in the ear. Arthritis occurs due to deposit in the body tissue.

Front 12

What simple urine screening test will be positive in someone with alkaptonuria?

Back 12

Clinitest (yellow precipitate) - homogentistic acid is a strong reducing reagent.

Front 13

Melanuria?

Back 13

Increased amounts of malanuria indicates an over proliferation of normal melanin producing cells (melanocytes)

Front 14

What disease process might occur in someone with melanuria?

Back 14

indicates tumor (malignant melanoma)

Front 15

List two major groups of branched-chain amino acids disorders?

Back 15

1. Accumulation of early a.a. degregation products

2. Organic academia: organic acids produced further down in the a.a. metabolic pathway

Front 16

What test would be positive in newborns with branched-chain amino acids disorders?

Back 16

KETONES

Front 17

Amino acids involved in Maple Syrup

Back 17

Leucine, Isoleucine, and valine

Front 18

One confirmatory test for Maple Syrup urine disease?

Back 18

A.A. chromatography

Front 19

Three free common disorder for organic acidemias

Back 19

isovaleric - sweaty feet

propionic

methylmalonic

Front 20

What constituents are increased in tryptophan disoders?

Back 20

Indican (urine will be indigo blue) and 5-HIAA

Front 21

process of indicanuria

Back 21

Most of the Tryptophan that enters the intestine is reabsorbed or is converted to indole by intestinal bacteria and excrete in the feces.

Front 22

Indicanuria a.a?

Back 22

Tryptophan-

Front 23

Explain Harnup disease and list symptoms?

Back 23

an inherited metabolic disease - abnormalities of the renal tubules. Characterized by: aminoaciduria, dry red scaly rash, muscular incoordination

Front 24

What neurochemical is involved in the production of 5-HIAA? Blood cells responsible for carrying this neurochemical?

Back 24

Serotonin

Platelets

Front 25

What other conidition can result in an increase in 5-HIAA in urine?

Back 25

Carcinoid tumors

Front 26

List reasons for false positives in 5-HIAA testing?

Back 26

Ingestion of bananas, pineapples or tomatoes. Serotonin is major constituent of these foods.

Front 27

Cystinuria

Back 27

defect in the renal tubular transport of a.a. There is an inability of the renal tubules to reabsorb cystine filtered by glomerulus.

Front 28

Cystinosis?

Back 28

inborn error of metabolism

Front 29

Two types of cystinuria

Back 29

1. cysteine, lysine, arginine and ornithine are increased - More serious = production of kidney stones.

2. cysteine and lysine are increased

Front 30

What condition is associated with cystinosis and what are some symptoms?

Back 30

Fanconi's syndrome- defect in renal tubular reabsorbstion. Symptoms include crystalline deposits of cysteine in many areas of the body (eye, bone marrow, lymph nodes, internal organs)

Front 31

Laboratory findings in cystinosis

Back 31

polyuria

Aminoaciduria

Reducing substances

decrease urine concentration

may advance to renal failure

Front 32

What amino acid is involved in homocystinuria

Back 32

MET

Front 33

Symptoms of homocystinuira?

Back 33

failure to thrive

cataracts

mental retardation

thromboembolic problems

death

Front 34

What causes homocystinuria?

Back 34

metabolic defects in the metabolism of MET

Front 35

What are porphyrins?

Back 35

Porphyrins are the intermediate compounds in the production of heme.

Front 36

Three primary porphyrins

Back 36

1. uroporphyrin

2. coproporphryin

3. protoporphyrin

Front 37

Screening test for porphryins?

Back 37

Ehrlich RXN

Fluorescence screening

Front 38

What is increased in acute intermittent porphyria?

Back 38

porphobilinogen

Front 39

Symptoms of porphyrin disorders?

Back 39

intermittent acute attacks of hypertention, abdominal colic, psychosis, and neuropathy.

Front 40

What are mucopolysaccharide disorders?

Back 40

group of large compounds located primarily in the connective tissue. They have protein core with numerous polysaccharide branches - which cannot be broken down due to the inherited metabolic disorder

Front 41

What is accumulated in mucopolusaccharide disorder and where in the body will it be found?

Back 41

Accumulation of incompletely metabolized polysaccharide portion in the lysosomes of the connective tissue cells.

Front 42

Two types of mucopolusaccharide disorders?

Back 42

Hurler's syndrome

Hunter's syndrome

Sanfilippo's syndrome (mental retardation)

Front 43

T/F Hurler's syndrome affects skeleton structure and causes mental retardation and is usually fatal in childhood?

Back 43

FALSE - Hunter's syndrome

Front 44

Hurler's syndrome symptoms?

Back 44

Affects skeleton structure, causes mental retardation, and mucopolysaccharides accumulate in the eye. Also, usually fatal in childhood.

Front 45

What is the major disorder of purine metabolism? And what crystals would be seen?

Back 45

Lesch-Nyhan disease - Uric acid crystals

Front 46

Clinical symptoms of purine disorders?

Back 46

Severe motor defects

mental retardation

mental dysfunction

self destruction

gout

renal calculi

Front 47

What age do you start seeing the major disorder of purine metabolism?

Back 47

6 months

Front 48

Melituria?

Back 48

presence of increased urinary sugar (any sugar)

Front 49

What is galactosuria?

Back 49

caused by the inability to properly metabolize galactose to glucose

Front 50

Major defect in galactosuria

Back 50

deficiency of GALT - an enzyme responsible for convertin ingested galactose to glucose

Front 51

Symptoms of galactosemia:

Back 51

infant failure to thrive

liver disorders

cataracts

severe mental retardation

Front 52

treatment of galactosemia?

Back 52

Removal of lactose from diet

Front 53

Other causes of melituria?

Back 53

1. Lactosuria

2. Fructosuria

3. Pentosuira

Front 54

List the causes of renal proteinuria

Back 54

occurs from glomerular or tublar damage. Allows increases amounts of serum albumin and cells to pass through and be excreted in urine.

Front 55

Difference between renal proteinuria and tubular disorders?

Back 55

Protein levels: slightly elevated

Tubular disorders: produce low level of protein

Front 56

Major causes of renal proteinuria due to glomerular damage?

Back 56

amyloid material

toxic substances

immune complexes (SLE, strep, glomerul)

Other causes: increased blood pressure from exercise dehydration and hypertension -these are reversible.

Front 57

tubular proteinuria?

Back 57

condition where normally filtered albumin is not reabsorbed (inlcues low MW proteins)

Front 58

Name one condition that results in tubular proteinuria?

Back 58

Fanconi syndrome- impaired renal tubular transport (proximal tubules)

Front 59

symptoms of tubular proteinuria

Back 59

Polyuria

Polydipsia

Bone pain

failure to thrive

rickets

Osteomalacia

Front 60

Orthostatic (postural) proteinuria? Who is most susceptible?

Back 60

Persistent benign proteinuria.

Tall, thin, physically active adolescence. Occurs when standing, goes away when horizontal

Front 61

T/F Test results for orthostatic proteinuria. First morning specimen is positive for protein , while second specimen is negative?

Back 61

FALSE. first morning is negative!

Front 62

Functional proteinuria

Back 62

excretion of protein due to conditions that induce proteinuria via renal vascoconstriction.

Front 63

Causes of functional proteinuria?

Back 63

Fever, exposure to heat or cold, excessive exercise, emotional stress

Front 64

"A benign transient proteinuria"

Back 64

functional proteinuria

Front 65

Postrenal proteinuria

Back 65

occurs when protein is added to the urine as it pass through the lower urinary tract (ureters, bladder, urethra, prostate/vagina)

Front 66

What can cause postrenal proteinuria

Back 66

bacterial and fungal infections and inflammations produce exudates containing protein from interstitial fluid.

Front 67

Four types of renal disease?

Back 67

Glomerular

Tubular

Intersitial

Vascular

Front 68

The majority of glomerular disorders are a result of?

Back 68

immune orgin. immune complexes circulate in the bloodstream and are deposited on the glomerular membranes.

Front 69

What type of damage can result in glomerular disorders?

Back 69

cellular infiltration or proliferation and thickening of the glomerular basement membrane.

Front 70

Other non-immune causes of glomerular damage?

Back 70

1. chemicals/toxins

2. electrical membrane charges

3. deposition of amyloid material

4. Basement membrane thickening - diabetic

Front 71

what is glomerulonephritis and was it is associated with?

Back 71

sterile, inflammatory process that affects the glomerulus. It is associated with: blood, protein, and casts

Front 72

Acute post-streptococcal glomerulonephritis? treatment?

Back 72

immune complexes are formed from the streptococcus antibodies and become deposited on the glomerular membranes.

no treatment. wait for immune complexes clear from blood. Usually no permanent kidney damage.

Front 73

symptoms of Acute post-streptococcal glomerulonephritis?

Back 73

fever

edema

fatigue

hypertension

oliguria

hematuria

Front 74

Acute post-streptococcal glomerulonephritis UA findings?

Back 74

RBC

WBC

Proteinuria

Oliguria

RBC, Hyaline, and granular casts

Front 75

Rapidly Progressive Glomerulonephritis

Back 75

Is the more serious form of acute glomerular disease. Prognosis is poor, often terminating in renal failure

Front 76

What causes Rapidly Progressive Glomerulonephritis?

Back 76

systemic lupus erthematosus (SLE)

Front 77

One symptom of Rapidly Progressive Glomerulonephritis?

Back 77

macrogphages on the capillary walls cause damage

Front 78

What is Goodpastures syndrome?

Back 78

Similar to Rapidly Progressive Glomerulonephritis, but condition can follow viral respiratory infection.

Front 79

What can Goodpastures syndrome result from?

Back 79

Cytotoxic autoantibody against the glomerular and alveolar basement membrane (attaches to the basement membrane, initiates complement activation, produces capillary destruction)

Front 80

Goodpastures UA findings?

Back 80

Proteinuria

RBC

RBC casts

Front 81

Wha blood cells are activated in Anti-GBM disease ?

Back 81

WBC - they attack vessel walls resulting in inflammation.

Front 82

Vaculitis is the inflammation of blood vessels. What are two conditions that are a result of vasculitits?

Back 82

Wegener's granulomatosis

Henoch-Schonlein purpura

Front 83

Wegener's granulomatosis? how can it be detected?

Back 83

kidney vaculitis disease: causes a granuloma producing inflammation of small blood vessesl.

Antineutrophilic cytoplasmic antibody (ANCA)

Front 84

Wegener's granulomatosis UA findings

Back 84

RBC

RBC casts

Proteinuria

Elevated BUN and creatinine

Front 85

Henoch-Schonlein purpura?

Back 85

occurs primarily in children following upper respiratory infections.

Front 86

Henoch-Schonlein purpura UA findings?

Back 86

Increased

Protein

RBC

RBC casts

Front 87

What anitbodies are involved in Berger's disease? UA findings?

Back 87

IgA complexes deposited on glomerular membrane. MOST COMMON CAUSE OF GLOMERULONEPHRITIS.

Hematuria and microhematuria

Front 88

Antibodies involved in Membranous glomerulonephritis? UA findings?

Back 88

IgG immune complexes- thickening of the glomerular basement membrane.

RBC and proteinuria

Front 89

Nephrotic syndrome symptoms?

Back 89

Massive proteinuria

low levels albumin

high levels of serum lipids

pronounced edema

Front 90

Condition of nephrotic syndrome?

Back 90

decrease albumin in the blood stimulates increased production of lipids from the liver and increases fluid entering the interstitial spaces.

Front 91

describe te cause of edema in nephrotic syndrome?

Back 91

edema occurs from the accumulated fluid along with sodium retention

Front 92

Primary UA findings in nephrotic syndrome?

Back 92

Proteinuria

RBC

Fat droplets

oval fat bodies

RTE

Epitelial cast

Fatty casts

Waxy casts

Front 93

What is the most common ESRD?

Back 93

Kimmelstiel-Wilsons disease. It can be detected thru monitoring of microabluminuria

Front 94

One disease that is a type of tubular disorder?

Back 94

Acute tubular necrosis

Front 95

What is the cause of actute tubular necrosis?

Back 95

there is damage to the RTE cells.

Front 96

Acute tubular necrosis UA findings?

Back 96

mild proteinuira

RBC

RTE

Epithelial casts (RTE)

As well as other casts may be present

Front 97

An acquired (toxic) or hereditary tubular disorder..Fanconi Syndrome?

Back 97

consists of failure of tubular reabsorption in the proximal convoluted tubule.

Front 98

What is interstitial disorder?

Back 98

"Tubulointersitial disease" affects the interstitium and tubules. Most disorders involve infections and inflammatory conditions

Front 99

What is the mist common renal disease

Back 99

UTI

Front 100

UA findings in Intersitial disorders

Back 100

WBC (numerous)

Bacteria

Proteinuria

RBC

Front 101

Acute pyelonephritis is?

Back 101

An infection of the upper urinary tract (pelvis, tubules and intersitium) - typically occurs as a result of bacteria ascending upwards from lower UTI

Front 102

primary UA findings of acute pyelonephritis?

Back 102

WBC

Bacteria

Proteinuria

RBC

WBC casts (infection in the tubules)

Front 103

Chronic pyelonephritis?

Back 103

More serious. Permanent damage to the renal tubules and chronic renal failure may occur.

Often diagnosed in children

Front 104

UA findings of chronic pyelonephritis?

Back 104

WBC

Bacteria

Proteinuria

RBC

WBC casts

Granular, waxy and broad cast

Front 105

What causes acute interstitial nephritis?

Back 105

primarily associated with an allergic reaction to medications.

Front 106

Urinalysis findings of acute interstitial nephritis?

Back 106

RBC

Proteinuria

WBC

WBC casts

Eosinophils

ABSENCE of bacteria

Front 107

ESRF (acute and chronic) symptoms

Back 107

decreased GFR ,25ml/min

steady rise in serum BUN, creatinine

electrolyte imbalance

lack of renal concentrating ability

positive urine protein and glucose

granular waxy and broad casts.

Front 108

T/F can acute renal failure may be reversible?

Back 108

TRUE

Front 109

Primary causes of acute renal failure?

Back 109

prerenal - decrease in bp

renal - acute glomerular and tubular disease

postrenal - stones, tumor obstructions, crystallization

Front 110

What are 3 renal disorders with acute respiratory symptoms?

Back 110

1. Goodpastures - hempotysis

2. Wegener's granulomatosis - hemoptysis

3. henoch-Schoenlein prupura-blood in sputum

Front 111

Two renal disorders with oval fat bodies/fat droplets?

Back 111

Nephrotic syndrome- OFB, fat droplets, fatty casts

Minimal change disease - fat droplets

Front 112

One renal disorder involving pH?

Back 112

Cystitis - increased pH

Front 113

Renal disorders with immune involvement?

Back 113

- glomerulonephritis

- goodpastures

- Wegener's granulmatosis

- IgA nephropathy

Front 114

Renal disorders w/podocyte disruption?

Back 114

nephrotic syndome

minimal change disease

focal segmented glomeruloscerosis

Front 115

renal disorders with glycosuria?

Back 115

-Fanconi syndrome

-renal glycosuria