Metabolism Disorders - Exam 4 Flashcards

1
Q

What do congenital metabolic disorders arise from? What type of inheritance are the majority? How are they dx?

A

the absence or abnormality of an enzyme or its cofactor, leading to either accumulation or deficiency of a specific metabolite

autosomal recessive

Diagnosis via enzyme essays or genetic testing

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2
Q

What are the three products of carbohydrate metabolism?

A

glucose
fructose
galactose

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3
Q

What are the two components of sucrose? Lactose?

A

Sucrose = Glucose + Fructose

Lactose = galactose + glucose

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4
Q

_____ found in fruit, vegetables, honey, high fructose corn syrup, sucrose, sorbitol

____ is broken down from starches, lactose, maltose and sucrose

A

Fructose

Glucose

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5
Q

______ functions as the long-term storage for excess glucose. What are the two places it is stored? When is it formed?

A

glycogen

liver and muscle cells

Formed during periods of dietary carbohydrate loading

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6
Q

____ is converted to glucose for energy throughout the body and CNS. What is it responsible for?

A

liver glycogen

glucose homeostasis in between meals and during periods of fasting

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7
Q

_____ is converted to glucose during periods of ?????

A

muscle glycogen

high energy muscle activity

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8
Q

When is glycogen broken down?

A

Broken down when glucose demand is high or dietary availability is low

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9
Q

____ Defects in glycogen metabolism results in an accumulation of glycogen in the tissues. What two organ systems will determine clinical presentation?

A

glycogen storage diseases

liver and muscles

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10
Q

hypoglycemia
+/- hepatomegaly
muscle pain
cramps
rhabdomyolysis
cardiomyopathy
conduction defects
delayed growth in children
progressive weakness involving trunk and extremities
myoglobinuria

What am I?
When do s/s usually appear?
What is the tx?

A

glycogen storage disease

Symptoms occur after short periods of moderate to intense exercise

Avoid hypoglycemia by eating frequent smaller meals
Enzyme replacement therapy may be available for some subtypes
Treatment of complications (ie rhabdomyolysis)

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11
Q

What does myoglobinuria present like in a pt with glycogen storage disease?

A

Myoglobinuria will present as blood (heme) in urine on a dipstick. When the microscopic eval is done no RBC’s will be seen.

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12
Q

What are common lab findings on a pt with glycogen storage dz?

A

Lab findings of hypoglycemia, elevated LFT’s and/or CPK
Genetic testing

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13
Q

What is CPK? When it is used?

A

Creatinine Phosphokinase (CPK) - an enzyme that is located in the muscles, heart and the brain. When cells are damaged in these organs CPK is released.

aka enzyme released from muscle cells as they break down aka signals that muscle cells are breaking down (not a good thing)

will be high in glycogen storage dz

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14
Q

How is fructosemia inherited? What are the 3 subtypes?

A

autosomal recessive: inability to metabolize fructose

fructokinase (Essential Fructosuria)

fructose 1,6-bisphosphate aldolase - aka aldolase B (Hereditary Fructose Intolerance)

fructose 1,6-diphosphatase (FDPase) (aka fructose 1,6-bisphosphatase)

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15
Q

Essential Fructosuria is _____

Hereditary Fructose Intolerance is _____

FDPase is _____

A

fructokinase

fructose 1,6-bisphosphate aldolase - aka aldolase B

fructose 1,6-diphosphatase

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16
Q

_____ is a benign (asymptomatic) condition resulting from a lack of fructokinase. **What is the pathophys behind it? What is the tx?

A

Essential fructosuria

Incomplete metabolism of fructose in the liver leading to its excretion in urine aka fructose and sucrose just gets peed out

nothing! does NOT cause problems

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17
Q

Hereditary fructose intolerance is an inadequate breakdown of fructose causing a _____ of fructose-1-phosphate in the ???? (3 organs). What does it lead to?

A

toxic accumulation

liver, kidney and small intestine

cell death

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18
Q

vomiting, jaundice, hepatomegaly
crying due to abdominal pain
symptoms of hypoglycemia (lethargy/irritability/convulsions)
failure-to-thrive
infant is initially healthy and asymptomatic

What am I?
When do s/s appear?

A

Hereditary Fructose Intolerance

Symptoms begin upon ingestion of fructose or sucrose: usually from fruit, sweetened cereal or sucrose containing formula

formula fed babies will show signs earlier but breast fed babies will be around 4-6 months when they first are introduced to baby food

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19
Q

How do you confirm dx of Hereditary Fructose Intolerance? What is the tx? What are 2 common complications?

A

genetic testing

complete avoidance of fructose and sucrose

liver and renal failure

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20
Q

Which type of fructosemia enzyme def is VITAL for gluconeogenesis? What is the result?

A

Fructose 1,6-bisphosphatase

deficiency of FDPase results in inadequate glucose production during periods of fasting (between meals and during sleep)

aka cannot produce glucose through gluconeogenesis due to lack of the enzyme

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21
Q

hypoglycemia
acidosis (due to lactate build up)
respiratory rate
nausea
vomiting
lethargy

What am I?
What is the tx?

A

Fructose 1,6-bisphosphatase Deficiency

avoid prolonged fasting
avoid fructose

**acidosis: body compensates by trying to blow off excess CO2 (acid) and respiratory rate will be elevated

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22
Q

What is galactosemia? How is it inherited?

A

autosomal recessive

lack of metabolism of galactose leading to a toxic accumulation of galactose-related molecules in various organs

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23
Q

Name 4 fruits/veggies that have galactose? What is the primary source?

A

tomatoes, brussels sprouts, bananas, and apple

human/cow milk and baby formula

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24
Q

What are the three different galactosemia enzyme deficiencies? What is the MC? What is the most severe?

A

**Galactose-1-phosphate uridyl transferase (GALT) deficiency (type 1- Classic galactosemia)
the most common and severe type

Galactokinase deficiency (GALK)(type 2)

Galactose epimerase deficiency (GALE)(type 3)

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25
Normal at birth decreased appetite vomiting diarrhea hepatomegaly jaundice failure to thrive cataract within 2 weeks What am I? What is the cataract formation due to?
Classic Galactosemia - GALT - Type 1 galactitol deposition
26
sepsis, intellectual deficits, movement disorders, ovarian failure (females), liver/kidney failure. Are all complications of ______
classic galactosemia
27
What is the major presenting difference between GALT and hereditary fructose intolerance?
Hereditary Fructose Intolerance will have hypoglycemia GALT will have cataract formation
28
_____ type of galactosemia primarily presents with a cataract. _____ ranges from asymptomatic to classic presentation
GALK GALE: has a range of presenation
29
Is GALT enzyme def included in a newborn screening? What enzymes will be elevated? reduced?
YES! RBC galactose-1-phosphate - elevated in GALT deficiency GALT enzyme activity - reduced in GALT deficiency
30
What is the tx for GALT?
Minimize dietary galactose by Discontinue breastfeeding or traditional formula Use soy-based formulas (ie Alsoy, Isomil, ProSobee) Later avoid dairy products; lactose-free may be safe later on
31
Galactose-1-phosphate uridyl transferase deficiency is ____ Uridine diphosphate galactose 4-epimerase def is _____ Galactokinase def is _____
GALT (UDP) (GALE) GALK
32
What are three main functions of AA? When does dysfunction occur? Are AA disorders included in the newborn screening?
building blocks for proteins and synthesis of hormones and neurotransmitters Dysfunction occurs when the amino acids are unable to catabolize (break down) which results in an accumulation of the AA compound in the blood or urine aka cannot break down AA which leads to increased levels of AA in the serum YES!
33
Phenylketonuria results in a deficiency of an enzyme called _____. How is it inherited? What is it responsible for?
phenylalanine hydroxylase (PAH) autosomal recessive PAH responsible for converting phenylalanine → tyrosine
34
What type of foods are high in phenylalanine? Low?
35
PKU leads to a toxic accumulation of phenylalanine in the _____. What happens next?
brain Phenylalanine excess results in destruction of the myelin (fatty covering)of individual nerve fibers aka destroys myelin
36
What does the severity of PKU depend on? What is considered "classic PKU"? What ethnicity is MC?
amount of enzyme lost, ranges from mild - complete absence classic = complete absence of enzyme MC: in white and native american
37
normal at birth loss of appetite weakness vomiting irritability Epilepsy Abnormal gait/posture/stance loss of executive functioning decreased motor functioning What am I? What happens if left untreated? Why?
Phenylketonuria (PKU) Blue eyes, light hair, and skin Phenylalanine interferes with melanin production
38
How do you dx PKU?
newborn screening Phenylalanine interferes with melanin production
39
What is the tx for PKU? What food do they need to avoid?
Dietary restriction of phenylalanine: Avoid meats, dairy, nuts, aspartame **supplement tyrosine sapropterin pegvaliase
40
______ activates PAH to promote the breakdown of phenylalanine. Can you rx to kids?
sapropterin (Kuvan)
41
_____ degrades phenylalanine. Can you rx to kids?
pegvaliase (Palynziq) NO! adults only
42
Which of the two drugs that reduce blood phenylalanine must you have some enzyme present in order for it to work?
sapropterin (Kuvan) must have some enzyme present **aka will not work in complete enzyme absence
43
______ A deficiency in the enzyme complex (branched-chain ketoacid dehydrogenase complex - [BCKDC]) required to break down branch-chain amino acids¹ (BCAA). How is it inherited?
Maple Syrup Urine dz autosomal recessive
44
What is the function of BCAA (branch chain AA)? Name 3
stimulate the building of protein in muscle and possibly reduce muscle breakdown leucine isoleucine valine
45
Def in branched-chain ketoacid dehydrogenase complex BCKDC] lead to ??? What is the result?
accumulation of these BCAA and their byproducts throughout the body neuroinflammation
46
Elevation of plasma _____ causes maple syrup odor. Urine has a sweet odor, much like burnt caramel in ____. Name some common sources.
isoleucine maple syrup urine dz eggs, soy protein, white fish, pork, beef, tofu, parmesan, sesame
47
What is the MC form of maple syrup urine dz? How much enzyme activity? What is the form? enzyme activity?
Classic MSUD - < 3 percent enzyme activity Non-classic MSUD - 3-30% enzyme activity
48
symptoms begins within 48 hours - 2 weeks irritability poor feeding vomiting lethargy dystonia apnea seizures cerebral edema, can die What am I? How is it dx?
classic MSUD newborn screening prenatal screening is available
49
onset is anytime during infancy or childhood epigastric pain vomiting anorexia muscle fatigue hyperactivity sleep disturbance stupor decreased cognitive function dystonia ataxia s/s are exacerbated by physical stress What am I? What is the management for both types?
Non-classic MSUD -strict protein restriction (medical grade formula/food) -trial of thiamine supplementation for 4 weeks -control metabolic decompensation by hemodialysis if needed -liver transplant for classic MSUD because 10% enzyme is better than 0%
50
in maple syrup urine dz, you want to inhibit further protein catabolism and enhance protein synthesis by what 3 things?
Discontinue protein intake x 24-48 hours IV glucose - provides calories (prevents protein catabolism for energy) IV insulin if glucose is > 130 mg/dL insulin enhances endogenous protein synthesis
51
homocystinuria is due to the dysfunction of the metabolism of the amino acid ____ results in an accumulation of _____ and diminished _____. What is the MC enzyme deficiency?
methionine homocysteine cysteine cystathionine β-synthase
52
in homocystinuria, elevated ____ results in abnormal production of ____ and _____. What is there function?
homocysteine elevated elastin and fibrillin function: maintain the integrity of tissues such as blood vessels, lung, skin and ocular ligaments aka connective tissue and vasculature
53
What is the effect of homocysteine on the neurological system? What are the results?
excitatory effects on the neurologic system results in cognitive developmental delays and seizures aka problems with motor development
54
What is a common ocular problem seen in pts with homocystinuria? Why does this happen?
lens dislocation Low cysteine levels are thought to weaken the fibers holding the lens of the eye in place
55
What are the two MC presenting s/s of homocystinuria? What age?
dislocated optic lens and mental retardation 3-5 years old
56
long limbs, fingers and toes; hyperlaxity, crowded oral maxilla, high palatal arch Pes excavatum (sternum sinks in) Pes carinatum (protrusion of sternum) Genu valgum (knock knees evidence of thromboembolic related s/s seizures hemiplegia aphasia ataxia pseudobulbar palsy What am I? How do you dx? What is the tx?
Homocystinuria dx: newborn screening Elevated levels of homocysteine and methionine in the plasma or urine tx: protein restriction Vit B6, B12, folate supplements cysteine supplements Betaine
57
What is pseudobulbar palsy?
inability to control facial muscles and emotions - uncontrollable laughing or crying at inappropriate times
58
What will the lab values look like on a pt with homocystinuria? Why do you supplement B6, B12 and folate?
elevated homocysteine and methionine in the plasma or urine helps convert homocysteine to methionine
59
______ helps convert homocysteine to methionine. What dz?
Betaine homocystinuria
60
What is a lysosome? Where are they formed? What is the broad primary function?
an organelle in the cytoplasm of eukaryotic cells that contains degradative enzymes enclosed in a membrane golgi body keep the cell healthy
61
What are some additional functions of a lysosome?
digests nutrients for use by the cell Release enzymes outside of the cell to destroy materials around the cell Digests unwanted materials (ie virus/bacteria) from inside and outside the cell (garbage disposal of a cell) breaks down cells that have died cell membrane repair
62
_____ are a part of the cell wall. They protect the cell from _____, assist in ____ and serve as _____ for the cell.
Glycosphingolipids degrading enzymes signal transduction receptors
63
What are the 4 types of glycosphingolipids? What dz goes with each?
Gangliosides ->Tay-Sachs Disease Cerebrosides -> Gaucher Disease Globotriaosylceramide -> Fabry Disease Sphingomyelin -> Niemann-pick Disease
64
Gangliosides -> ______ Cerebrosides -> ______
Tay-Sachs Disease Gaucher Disease
65
Globotriaosylceramide -> ______ Sphingomyelin -> ______
Fabry Disease Niemann-pick Disease
66
What is the underlying broad cause of lysosomal storage disoders?
Disorders that results from an abnormality in the biosynthesis of the lysosome which results in impaired enzyme activation
67
What is the cause of Gaucher dz?
Results from a deficiency in glucocerebrosidase (GCase)
68
What is the function of Gcase? What dz? _____ are component of cell membranes, that are released when cells are degraded
Gcase breaks down a fatty chemical called glucocerebroside into glucose and ceramide Glucocerebrosides
69
What are Gaucher cells? What do they look like? Where are they found? What is the result?
A lack of GCase results in excessive glucocerebroside which builds up in macrophages "wrinkled tissue paper" spleen, liver, bone marrow, (and brain in severe cases) results in chronic inflammation and fibrosis
70
How is Gaucher dz inherited? What is the MC ethnicity?
autosomal recessive Ashkenazi Jewish ancestry
71
What are the 3 types of Gaucher dz? Which one is worse? Which types have CNS involvement? Which one is MC in the US? MC in the world?
G1, G2, G3 G2- has an early onset and is more aggressive Type 2 and 3 US- G1 world: G3
72
What is a symptom that is common in all types of Gaucher dz? Describe it. What is the result?
bone crisis Localized excruciating pain, local erythema, fever, and leukocytosis Gaucher cells (lipid-laden macrophages) infiltrate bone marrow resulting in infarction, ischemia, necrosis, and cortical bone destruction
73
What are some characteristics of G1 Gaucher dz?
**Bone marrow fibrosis**, osteopenia, HSM, No CNS involvement!! Slow progression - most often dx before age 20 Normal life span
74
What are some characteristics of G2 Gaucher dz?
early onset and more aggressive CNS involvement - Seizures, ataxia, hypotonia, MR Death often by age 2
75
What are some characteristics of G3 Gaucher dz?
MC world wide Both bone and neurologic involvement slower rate of neurologic symptoms Death often before adulthood
76
How do you dx Gaucher dz?
NOT included in the newborn screening in WV **dx through Low beta-glucosidase leukocyte enzyme activity** Hallmark genetic testing
77
What is the tx for Gaucher dz?
recombinant glucocerebrosidase (Imiglucerase) eliglustat (Cerdelga) and miglustat (Zavesca)
78
_____ in Gaucher dz, helps to break down glucocerebroside but is not effective in reducing or reversing most CNS symptoms
recombinant glucocerebrosidase (Imiglucerase)
79
_____ is Gaucher dz, helps to block production of glucocerebroside (fatty substance)
Substrate-reduction therapy (SRT): eliglustat (Cerdelga) and miglustat (Zavesca)
80
What is Tay-Sachs dz? How is it inherited?
neurodegenerative disorder resulting from a mutation of the lysosomal enzyme, hexosaminidase A (Hex A) autosomal recessive
81
What is the role of hexosaminidase A (Hex A)? What dz?
hexosaminidase A helps to break down a fatty substance called GM2 ganglioside Tay-Sachs dz
82
What does a build up of GM2 ganglioside result in? What are 3 types of Tay- Sachs dz?
destruction of neurons in the brain and spinal cord 3 subtypes - varies based upon amount of enzyme present infantile, juvenile, adult onset
83
Normal presentation until 3-6 month of age exaggerated startle (Moro) reflex gross muscle weakness vision and hearing loss intellectual disability seizures and paralysis What am I? What is the hallmark finding? What is the life expectancy?
infantile Tay- Sachs dz cherry-spot on fundoscopy life expectancy: 2-5 years, death often complications of pneumonia
84
Why do you see a cherry red spot on the fovea in infantile Tay-Sachs dz?
accumulation of GM2 ganglioside in retinal ganglion cells
85
Symptom onset usually between 2-5 years of age respiratory infections behavioral problems slow loss of motor control and mental function Progresses to a state of unresponsiveness/unawareness for years prior to death death 10-15 years old What am I? What is the MC cause of death?
juvenile Tay-Sachs dz infectious related
86
Clumsiness in childhood Progressive motor weakness in adolescence Dysarthria in adulthood Intelligence declines slowly 40% experience mental health symptoms What am I? How do you dx? Is it included in the newborn screening?
adult onset Tay- Sachs dz Newborn screening Hex A enzyme analysis results a low enzyme level
87
What is the tx for Tay- Sachs dz?
no effective tx supportive care: tx aimed at symptoms
88
What is the prevention for Tay-Sachs dz?
screening and genetic counseling
89
What if Fabry dz? How is it inherited?
A deficiency of alpha galactosidase A (GLA) leading to an accumulation of globotriaosylceramide (GL3), a fatty substance in the blood vessels **X-linked inheritance: so more than likely will be seen in MALES
90
What does a build up of GL3 lead to? What dz? What organ systems are most affected?
builds up in the blood and blood vessel wall resulting in narrowed blood vessels which leads to inadequate oxygen Fabry dz skin, kidneys, heart, CNS
91
Angiokeratomas Hypo- or anhidrosis Corneal and lens opacities Acroparesthesia Progressive, small-vessel disease What am I? Where are the angiokeratomas commonly found? What are they caused by?
Fabry dz found primarily between the umbilicus and the knees. glycolipid buildup in endothelial cells weakening the capillary walls
92
What is the cause of death in Fabry dz? How do you dx?
Progressive, small-vessel disease of the kidney, heart, and brain ultimately results in death GLA enzyme activity - decreased Confirmed with genetic testing
93
What is the tx for Fabry dz?
Enzyme-replacement: agalsidase beta (Fabrazyme) Chaperone therapy: migalastat (Galafold) control symptoms and prevent complication: ASA, antihypertensive, statins
94
_____ increases GLA enzyme activity preventing accumulation of GL3. Adults only
Chaperone therapy: migalastat (Galafold)
95
What is Niemann-pick dz? What are the MC organs affected? What is the special cell type called?
a deficiency of acid sphingomyelinase (ASM) leading to an accumulation of sphingomyelin within macrophages and other cells, eventually causing cell death and organ malfunction spleen, liver, lungs, bone marrow, and brain The macrophage cells of NPD are referred to as “foam” cells due to their soap-suds appearance
96
What are the 3 subtypes of Niemann-pick dz? Which one is the most aggressive?
NPA, NPB, NPC NPA- most aggressive
97
Onset within 6 months after birth Rapidly progressive CNS deterioration spasticity interstitial lung disease (ILD) massive HSM failure to thrive What am I? What is the life expenctancy?
NPA death within 2 years
98
late childhood/adolescent Progressive HSM cirrhosis (“foam” cells replace liver cells) interstitial lung disease What am I? What is the life expectancy? What is the cause of death?
NPB Death in adolescence or early adulthood from liver/lung failure
99
middle-late childhood after normal early development Liver, spleen, and/or lung involvement is present in > than 85% of patients start out clumsy but progresses to ataxia, dysphagia, dystonia, seizures What am I? What is death secondary to?
NPC aspiration pneumonia
100
How do you dx Niemann-pick dz? Is it included in the newborn screening?
genetic testing NOT included in WV screening
101
What is the tx for NPA and NPC? What is the tx for NPB?
supportive care oxygen therapy and blood transfusions prn avoid contact sports if +spleen present olipudase alfa-rpcp (Xenpozyme)
102
What is Pompe dz caused by? How it is inherited?
Results from a deficiency in acid αlfa-glucosidase (GAA) resulting in an inability to break glycogen into glucose for energy Autosomal recessive mutation
103
In Pompe dz, _______ accumulates within the lysosome in all tissues leading to a lysosomal-mediated degradation of glycogenesis and _____
glycogen tissue destruction
104
What are the 3 subtypes of Pompe dz?
Classic infantile-onset Non-classic infantile-onset Late-onset
105
onset within a few months of birth hypotonia myocardiopathy HSM rapidly progressive What am I? What is the life expenctancy?
Classic infantile Pompe dz death before 1 year
106
onset by 12 months after birth delayed motor skills (rolling over, sitting) progressive muscle weakness leads to respiratory dysfunction cardiomegaly without heart failure What am I? What is the life expectancy?
Non-classic infantile Pompe dz death by early childhood: due to complication from organ dysfunction
107
late childhood, adolescence, or adulthood slowly progressive muscle weakness of the legs, trunk, respiratory muscles milder than other forms What am I? What is the life expectancy?
Late-onset Pompe dz (least enzyme defective) older age: cause of death is respiratory failure
108
How do you dx Pompe dz? Is it included in the newborn screening?
Acid alpha-glucosidase (GAA) enzyme levels - decreased Genetic testing confirms dx NOT included in the newborn screening in WV
109
What is the tx for Pompe dz? What is important to remember? What do you need to monitor for?
Enzyme replacement therapy - alglucosidase alfa (Lumizyme) Antibody formation to enzyme replacement therapy monitor: continued risk of gradual weakness, fractures, dysphagia, and sleep apnea despite treatment
110
How is phosphate absorbed? What 2 other things are important?
absorbed from ingested food in the small intestines and excreted by the kidneys need Vit D and PTH
111
What are functions of phosphate? What is the normal range? Where is it stored?
bone and teeth formation building block for cell for energy, cell membranes, and DNA 2.5-4.5 85% is stored in the bone 15% is stored in the intra/extra cellular compartments
112
What are 3 pathophys processes that contribute to hyperphosphatemia?
increased phosphate intake decreased phosphate excretion shift of intracellular phosphate to extracellular space
113
What is the MC cause of decreased phosphate excretion? What are additional reasons?
MC- CKD** hypoparathyroidism, increased Vit D, acute kidney dysfunction
114
a shift of intracellular phosphate to extracellular space is caused by ______ and _____ exacerbates hyperphosphatemia in disorders of kidney dysfunction
rhabdomyolysis tumor lysis syndrome aka transport of phosphate from inside the cell into the serum and it overwhelms the kidneys
115
How are calcium and phosphate related?
calcium decreases, phosphate increased. inversely related
116
What is the tx for hyperphosphatemia? What is the tx for mild hyperphosphatemia?
acute severe disease: no CKD: IV fluids CKD present: hemodialysis treatment is directed to underlying condition ___________ mild: dietary restrictions: avoid dairy item, meats and beans moderate/severe: phosphate binders calcium acetate (PhosLo) lanthanum carbonate (Fosrenol) sevelamer (Renagel)
117
_____ chelates phosphate in intestine to form insoluble calcium phosphate, which is excreted in feces. What is the indication? What forms does it come in?
calcium acetate (PhosLo) Hyperphosphatemia in End Stage Renal Failure (ESRD)- On Dialysis capsule and solution
118
Need to avoid ____ and calcium acetate. Is calcium acetate safe in pregnancy?
Digoxin fairly safe in pregnancy
119
_____ binds with phosphate inhibiting GI absorption. What forms does it come in? Is it safe in preg?
Fosrenol (lanthanum carbonate) powder, cheweable tablet. DO NOT MIX WITH WATER!! can be sprinkled on food NOT preferred in preg. Use calcium acetate
120
_____ polymeric phosphate binder - decreases serum phosphate concentrations without changing calcium, aluminum, or bicarbonate concentrations. What forms does it come in? Is it safe in pregnancy?
sevelamer (Renagel/Renvela) powder and tablet **aka: does not effect calcium, aluminum or bicarb levels** expected to be safe due to lack of systemic absorption
121
What are the 3 major subcategories of inadequate intake of hypophosphatemia?
inadequate intake: -Intestinal malnutrition -Vitamin D deficiency -Excessive use of antacids
122
What is the MC of hypophosphatemia due to increased excretion?
hyperparathyroidism
123
What are some causes of hypophsphatemia due from extracelluar to intracelluar shift?
Tx of diabetic ketoacidosis, refeeding syndrome, hungry bone syndrome
124
weakness, bone pain, muscle pain, rhabdomyolysis evidence of heart failure focal neurologic findings, seizures, altered mental status What am I? What is the tx?
hypophosphatemia mild: increase phosphate intake moderate: phosphate supplement
125
What is the function of magnesium? What is the normal range?
protein, carbohydrate, and fat metabolism maintenance of normal cell membrane function assistance in PTH regulation normal: 1.7- 2.1 99% is stored intracellular or bone 1% in extracellular space which is the stuff that shows up in labwork
126
What are some food sources of magnesium?
green vegetables, cereals, grains, nuts, legumes, and chocolate
127
What are some common pt types who have hypomagnesium?
alcoholics parenteral nutrition extremely poor diet hungry bone syndrome N/V/D pts
128
How does hypomagnesium present? What do you need to monitor?
s/s of hypokalemia and hypocalcemia everything is increased! cardiac arrhythmias muscular weakness, tremors, seizure, paresthesias, nystagmus Chvostek and Trousseau signs heart: order EKG
129
What is the tx for hypomegnesemia?
increase dietary intake severe: IV magnesium (give slowly!!) mild/moderate: oral magnesium, replenish calcium/potassium if needed
130
What is the etiology of Paget dz?
typically begins with excessive bone resorption followed by an increase in bone formation. overactive osteoclasts results in compensatory osteoblastic activity unknown etiology
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_____ a large multinucleate bone cell that absorbs bone tissue during growth and healing
osteoclast “cutter”
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_____ a cell that secretes the matrix for bone formation
osteoblast “builder”
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Describe the bones of a pt with Paget dz? What bones are MC?
structurally disorganized mosaic of bone that is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult bone axial skeleton: spine, pelvis, femur, sacrum, and skull
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Bone pain Secondary osteoarthritis Bony deformity Excessive warmth Neurologic complications lytic lesions What am I? What is the MC neuro complication?
Paget dz hearing loss
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What does alkaline phosphatase and bone specific alkaline phosphatase lab values look like in Paget dz?
Elevated alkaline phosphatase and bone specific alkaline phosphatase (BSAP) indicates increased osteoblast activity
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What is the tx for Paget dz? What are some complications?
bisphosphonate: alendronate (Fosamax), ibandronate (Boniva), risedronate (Actonel), zoledronic acid (Reclast) NSAIDs for joint pain Calcium and Vit D supplementation bone fractures, neoplasms, joint dz
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