Med 1 EOR - GI Flashcards
1
Q
what do the different cells of the stomach secerete? (parietal, chief)
A
parietal: HCl - dissolves food, activates pepsin, stimulates duodenal enzyme release, kills food bacteria
chief: pepsinogen (prehormone to pepsin) - digests proteins
2
Q
what does the pancreas release for negative feedback of digestion?
A
somatostatin –> inhibits secretion of gastrin, insulin, glucagon, pancreatic enzymes and inhibits gallbladder contraction
3
Q
where does MOST of the small intestine absorption take place?
A
duodenum
4
Q
what is secretin? (Where does it come from and what does it do?) what is the secretin test for?
A
Secretin: duodenum release secretin → inhibits parietal cell gastrin/HCl production → stim pancreas to release bicarb (buffer)
*clinical pearl: secretin test = reduced gastrin levels EXCEPT in Zoster-Ellison syndrome.
5
Q
what 3 things does cholecystikinin do?
A
- stimulates pancreatic release of digestive enzymes (trypsin, amylase,lipase) = helps breakdown fats + proteins.
- Increase bicarb release (pancreatic enzymes work best in buffered -basic environment)
- Stimulates gallbladder contraction + bile release. Bile salts → emulsify fats into smaller micelle (to make breakdown by lipase easier)
6
Q
excorine pancreas: what 4 substances do the acinar cells produce?
A
amylase, lipase, proteases (trypsinogen and chemotrypsinogen), bicarb
7
Q
endocrine pancrease: what 3 substances do the islets of langerhan’s produce?
A
insulin, glucagon, somatostatin
8
Q
MC cause of esophagitis? what are other causes?
A
GERD. also infectious (candida, CMV, HSV), meds (NSAIDS, etc), radiation, eosinophilic
9
Q
odynophagia, dysphagia, retrosternal chest pain. Kids- feeding difficulty.
Hematemesis + dyspnea w/ corrosive ingestion
A
esophagitis
10
Q
MC type of esophageal CA in the world , which part of the esophagus is it most commonly found?
A
Squamous: MC worldwide, MC in upper ⅓ of esophagus.
11
Q
MC type of esophageal CA in the US? what is the typical pt?
A
Adenocarcioma: MC young, obese, Caucasian. Usually a complication of GERD → Barret’s esophagus.
12
Q
Upper endoscopy = superficial longitudinal mucosal erosions. Dx?
A
mallory weiss tear
13
Q
txt options for mallor weiss tear
A
supportive (most stop bleeding w/out intervention). Acid suppression promotes healing. If severe bleeding → epi injection, sclerosing agent, band ligation, hemoclipping or balloon tamponade
14
Q
pathophys of achalsia
A
idiopathic loss of Auerbach’s plexus (usually produce inhibitory nitrous oxide to relax smooth muscle) → incr. LES pressure → lack of peristalsis + obstruction. → dilation if untreated.
15
Q
best first line to Dx pyloric stenosis?
A
US
16
Q
symptoms achalasia
A
dysphagia solids and LIQUIDS.
17
Q
Dx of achalasia (2 ways)
A
esophageal manometry (GOLD std) = pressure >40 mmHg + decr peristalsis. Double contrast esopahgram = “birds beak”
18
Q
txt options for achalasia
A
botox lasts 6-12mo, nitrates, CCBs, pneumatic dilation, esophagomyomectomy.
19
Q
unknown cause. EXCESSIVE contraction of esophagus w/ peristalsis
S+S: dysphagia (solids + LIQUIDS), CP, maybe asympt.
A
nutcracker esophagus
20
Q
Dx of nutcracker esophagus
A
manometry = incr pressure DURING peristalsis
21
Q
txt options for nutcracker esophagus
A
CCBs, nitrates, botox, sildenafil
22
Q
patho of zenckers diverticulum?
A
pharyngoesophageal pouch (false diverticulum, only involves mucosa) weakness of jxn between cricopharyngeus muscle + lower inferior constrictor → herniation/outpouch.
23
Q
Dx of zenker’s diverticulum is best made with what?
A
barium esophagram
24
Q
txt options for zenker’s diverticulum
A
diverticulectomy, cricopharyngeal myotomy. Observe if small and asymp.
25
what is dermatitis herpetiformis? txt?
MC dermatologic manifestation assoc w/ celiac dz. It is an autoimmune rash with very pruritic papules and vesicles, usually on the arms, knees, buttocks, or scalp. Lesions occur in groups.
Txt: gluten-free diet and dapsone.
26
which vitamin deficiency is most assoc w/ poor wound healing?
vit C
27
what vitamin deficiency causes night blindness?
Vit A
28
which tumor marker is elevated with liver CA?
alpha fetoprotein
29
FULL THICKNESS rupture of distal esophagus. Assoc. w/ repeated forceful vomiting (Bulimia), or iatrogenic perf from endoscopy
borhaave syndrome
30
S+S of borhaave syndrome ?
retrosternal CP worse w/ deep breath + swallowing, hematemesis, crepitus on chest auscultation from pneumomediastinum.
31
Dx of borhaave
CXR, chest CT = pneumomediastinum, esoph thickening, left-sided hydropneumothorax.
*Contrast esophagram (gastrograffin) = leakage
32
txt borhaave syndrome
IV fluids, NPO, abx, H2 blockers. Sx if large/severe
33
MC cause of varices in adults and kids?
cirrhosis (MC cause in adults), portal vein thrombosis (MC in kids)
34
S+S gastroesophageal varices?
upper GI bleed (hematemesis, melena, hematochezia), maybe S+S of hypovolemia
35
medication options for varices txt?
(vasoconstriction)- octreotide, vasopressin
36
medications to prevent rebleed after varices txt ?
*prevent rebleed: nonselective BBs, isosorbide (long-acting nitrate - vasodilator)
37
MC cause of acute pancreatitis in kids?
mumps
38
2 "signs" of necrotizing/hemorrhagic acute pancreatitis?
Cullen’s (periumbilical ecchymosis), Grey Turner (flank ecchymosis).
39
what lab electrolyte level is low with acute pancreatitis?
Ca+ (necrotic fat binds to it)
40
what might imaging show for acute pancreatitis?
= sentinel loop = localized ileus (dilated small bowel in LUQ), “colon cutoff” = abrupt collapse of colon near pancreas.
41
txt of acute pancreatitis
“rest the pancreas”- supportive (NPO, IV fluids, analgesia)
Abx only if severe necrotizing
ERCP only if obstructive jaundice
42
triad of S+S for chronic pancreatitis?
1. Calcifications 2. Steatorrhea 3. DM. Also weight loss
43
dx of chronic pancreatitis (image and labs)
abd Xray = calcified pancreas, amylase/lipase NOT elevated
44
MC kind of pancreatic CA, where is it found?
MC- adenocarcinoma- ductal MC, islet cell. 70% found in head of pancreas.
45
4 S+S severe pancreatic CA (asymp till METS)
1. Abdominal pain → back pain (tumors in body/tail show symptoms later than in head)
2. Painless jaundice (2ry common bile duct obstruction.
3. Pruritis + trousseau’s malignancy sign (migratory phlebitis assoc. w/ malignancy)
4. Courvoisier’s sign (palpable, non-tender, distended gallbladder assoc. w/ jaundice.
46
what tumor markers are increased with pancreatic CA?
CEA, CA 19-9.
47
MC cause gastric outlet obstruction ?
Malignancy is now the leading cause of gastric outlet obstruction (GOO) with pancreatic adenocarcinoma and distal gastic cancer being among the most common types of malignancy leading to this condition.
Gastric outlet obstruction, as the name suggests, is mechanical obstruction of the gastric outflow tract and classically presents with epigastric abdominal pain and postprandial vomiting
48
Which of the following Vitamin deficiencies presents with the 3 D’s (diarrhea, dermatitis, and dementia)?
niacin - this presentation is "pellagra"
49
gastritis/gastroenteritis - MC cause and other two causes
1. Helicobacter pylori (MC) 2. NSAIDs/ASA 3. Acute stress (if critically ill).
50
Dx gastritis
endoscopy = thick, edematous erosions. Hpylori test
51
txt of gastritis: H pyolir + or H pylori -
H pylori pos: Clarithromycin + Amox + PPI (Flagyl if PCN allergic)
H pylori neg: acid suppression (PPI, H2 block, antacids, sucralfate)
52
MC cause gastroenteritis?
viral (MC) - norovirus + rotavirus
53
gold std for dx GERD (although not commonly done)
24 hr ambulatory pH monitoring
54
txt for hematemesis from upper GI bleed?
IV PPI to reduce stomach acid and promote clot formation , IV fluids + blood, Sx
55
peptic ulcer dz is secondary to an imbalance of protective and damaging factors: what is the difference between the cause of gastric vs duodenal ulcer ?
Gastric Ulcer- DECR mucosal protective factors
| Duodenal Ulcer- INCR damaging factors (acid, pepsin).
56
which type of peptic ulcer is more common in older males + with steroid use?
duodenal ulcer
57
causes of peptic ulcer dz
H Pylori (MC cause)
NSAIDs
Zollinger-Ellison syndrome (gastrin producing tumor)
EtOH, smoking, stress (burns, trauma, Sx), CA
58
S+S peptic ulcer dz (which is specific for duodenal vs gastric location)
dyspepsia (epigastric pain - burning, gnawing, hunger-like). WORSE at night. May be relieved with food (DU) or worse with food (GU)
59
txt peptic ulcer dz ( H pylori positive (triple and quadruple) vs H pylori negative)
HPylori positive: triple therapy - Clarithromycin + Amox + PPI. Metronidazole if PCN allergic.
Quadruple therapy - Bismuth subsalicylate + tetracycline + PPI + metronidazole
H Pylori negative: PPI, H2 blocker, misoprostol, antacids, Bismuth compounds, sucralafate
60
txt for refractory PUD
Refractory: parietal cell vagotomy. Bilroth II Surgical procedure (gastrojejunostomy)
61
pyloric stenosis incidence increases with use of what abx?
erythromycin
62
nonbilious vomiting/regurgitation → projectile after feeding → hyerchloremic metabolic alkalosis. Olive-shaped nontender, mobile, hard mass- palpated after vomiting. Hyperperistalsis.
pyloric stenosis
63
dx of pyloric stenosis (first line in US) but what will contrast CT show?
upper GI contrast = “string sign” (dye through narrow channel) + delayed gastric emptying
64
MC type of gastric CA, most common risk factor
MC- adenocarcinoma. MC risk factor - H pylori.
65
which part of the GI tract is MC area for extranodal spread of nonhodgekins lymphoma
stomach
66
multiple peptic ulcers, refractory, “kissing” (either side of luminal wall). Abd pain, diarrhea (acid in duodenum inactivates the pancr enzymes that need a basic environment to be active = malabsorption).
zoster ellison syndrome (gastrin-secreting neuro endocrine tumor)
67
dx of ZES
INCR fasting gastric level , positive secretin test (normally gastrin is inhibited by secretin, but positive test = increased gastrin).
68
txt of ZES
local = Sx, metastatic= PPIs + Sx resection if liver involved
69
MC causes small bowel obstruction, MC causes of large bowel obstruction
post-Sx adhesions (MC small bowel), incarcerated hernias (2nd MC small bowel),
malignancy(MC large bowel)
* other causes, crohn's, intussusception
70
bowel obstruction: closed vs open loop, partial vs complete
Closed (vs open) loop- lumen occluded @ two points = decreased blood supply, necrotitis, peritonitis
Complete (vs partial)-obstipation - unable to BM or pass gas
71
how was distal small bowel obstruction present differently than proximal?
Distal (vs proximal) - presents more w/ abd distention + less vomiting.
72
abd xray of small bowel obstruction
abd Xray = air fluid levels (step ladder pattern)
73
txt of small bowel obstruction: nonstrangulated vs strangulated
nonstrangulated - NPO, IV fluids, bowel decompression (NG tube)
Strangulated -Sx
74
MC type colon cancer and MC area of METS
adenocarcinoma (usually from adenametous polyp), to liver
75
3 genetic predisoposing syndromes to colon CA? which is MC?
1. familial adenomatous polyposis (APC gene)
2. Lynch syndrome (hereditary nonpolyp) (MC)
3. Peutz-Jehgers (autosomal dominant → hamartomatous polyps, mucocutaneous hyperpigmentation (lips, oral mucosa, hands)
76
risk of colon CA from familial adenomatous polyopisis vs lynch syndrome
familial - 100% by age 40
| lynch- 40% risk (hereditary nonpolyp)
77
UC or Crohns puts you at higher risk for colon CA?
UC
78
what ethnicity is at higher risk for colon CA?
african americans
79
signs colon CA (left vs right sided)
```
right/proximal = bleeding lesions - anemia/fecal occult blood, diarrhea
left/distal= bowel obstruction, present later, hematochezia.
```
80
tumor marker for colon CA
CEA
81
txt guidlines for colon CA based on stage
stage I-III= resection, stage III+ = chemo (5FU)
82
colon CA screening guidelines: avg risk, 1st degree relative <60, 1st degree relative >60
(age to start. how frequent for fecal occult, colonoscopy, flex sigmoid)
*screen: avg risk: 50yo annual fecal occult, Q10yr colonoscopy (or flex sigmoid Q5yr)
1st degree relative >60: 40yo annual fecal occult, Q10yr colonoscopy
1st degree relative <60: 40yo annual fecal occult, Q 5yr colonoscopy
83
txt for diverticulosis vs diverticulitis
Diverticulosis: fiber +/- vasopressin
Diverticulitis: clear liquid diet, abx( cipro, bactrom + metronidazole)
84
congenital absence of enteric ganglion cells (failure complete neural crest migration= absence auerbach and meissner plexus) → functional obstruction (failure of relaxation of aganglionic segment).
hirschprungs dz
85
MC area for hirschprungs dz, MC pt population
MC distal colon and rectum. Risk - males, down syndrome
86
S+S hirschsprungs
meconium ileus (failure to pass >48hrs in full term), bilious emesis, abd distention. Failure to thrive. +/- enterocolitis (vomit/diarrhea, signs of toxic megacolon). Chronic constipation.
87
what is the initial screening used for hirschsprungs
anorectal manometry = lack of relaxation of internal sphincter w/ balloon distension. (initial screening).
88
gold std dx of hirschsprungs
*rectal (+/-suction) biopsy (GOLD std) = absence of ganglion cells. Full thickness if suction is non-dx.
89
"double bubble" on abd xray is significant for what?
duodenal atresia (infants, congenital- part of duodenum doesn't form, causes a blockage of where development of it stopped)
90
txt hirschsprungs dz
Sx resection of affected bowel
91
infectious diarrhea: invasive vs noninvasive. (S+S)
noninvasive (enterotoxin) = vomit. diarrhea - watery, large volume (small intestine), no fecal WBCs or blood
invasive = high fever, fecal blood + leukocytes, not as voluminous (large intestine), mucus. DO NOT GIVE antimotility (=toxicity)
92
infectious diarrhea: invasive vs noninvasive (bugs)
noninvasive: staph aureus, bacillus cereus, vibrio cholerae, enterotox E coli, Cdiff
invasive: campylobacter, shigella, salmonella, yersenia entero., enterohemorrhagic E coli
93
MC cause bacterial enteritis in US (infectious diarrhea) (and MC cause of guillane-barre)
campylobacter jejuni
94
w/in 6 hrs (heat stable enterotox), MC cause food (dairy, mayo, meat, eggs). S+S = vomit,diarrhea, abd cramps, HA . bug?
staph aureus
95
w/in 6 hrs, MC contaminated food (fried rice). S+S = vomit, diarrhea, abd cramps. bug?
bacillus cereus
96
S+S: copious watery diarrhea “rice water stools” (grey - no blood or pus), rapid severe dehydration.
vibrio cholerae : EXOtoxin = hypersecretion H2O + Cl- ions
97
txt for noninvasvie diarrhea and invasive diarrhea
supportive
+/- tetracyclines (for cholerae)
+/- FQ or TMP/SMX all others
98
MC cause of traveller’s diarrhea. S+S: abrupt onset, watery diarrhea, cramping, vomit.
enterotoxic E coli
99
S+S: foul odor, striking increase lymphocytes, pseudomembranous colitis, +/- bowel perf, toxic megacolon.
C diff (usually after clindamycin)
100
txt for C diff
Flagyl, vancomycin
101
Source- uncooked poultry, raw milk/dairy cattle. S+S: mimics acute appendicitis + diarrhea watery → bloody.
campylobacter jejuni
102
Dx and txt of Campylobacter jejuni
Dx: stool culture = gram - “S/ comma- shaped” organisms
Txt: supportive +/- erythromycin
103
Highly virulent. S+S: high fever, low abd pain, explosive watery diarrhea → mucoid/blood. Severe = toxic megacolon, reactive arthritis, young - febrile seizures.
shigella
104
Dx of shigella: stool and sigmoidoscopy
stool culture, fecal blood, leukemoid rxn (WBC >50,000). Sigmoidoscopy = punctate ulceration
105
txt shigella diarrhea
+/- TMP/SMX
106
txt salmonella
supportive +/- FQs
107
sickle cell pts with salmonella can develop what?
osteomyelitis
108
>1-2wks incubation period. Cephalic phase (HA, sore throat, constipation, cough) → crampy abd pain, pea soup stools. → intractable fever
enteric/typhoid fever (salmonella)
109
undercooked beef, unpasturized milk/apple cider, day care, contaminated water. Produces cytotoxin. S+S: watery diarrhea → bloody, crampy abd pain. Low fever/absent.
EnteroHemorrhagic E coli
110
contaminated pork, milk, water, tofu. S+S: mimics acute appendicitis (can cause mesenteric adenitis = abd tenderness + guarding).
yersenia enterocolitica
111
1. LLQ colic abd pain. Tenesmus, urgency, bloody diarrhea, hematochezia
2.RLQ crampy abd pain. Weight loss. Diarrhea w/ NO visible blood
which is UC? crohns?
1. UC
| 2. Crohns
112
Dx of UC and Crohns: barium study, labs, colonoscopy
UC: colonoscopy = uniform inflammation, pseudopolyps. Barium study = “stovepipe sign”, labs = P-ANCA
Crohn’s: colonoscopy =skip lesions, cobblestone. Barium study = “string sign”. Labs = ASCA.
113
txt for UC and Crohn's
Meds: aminosalicylates (sulfasalazine, mesalamine) → steroids → immune modifying agents (6-meraptopurine, azathrioprine, cyclosporine, methotrexate).--> anti-TNF biologics.
* ASAs better for UC.
*steroids for acute flares only
Sx curative for UC
114
ischemic bowel dz: MC location
splenic flexure (less collateral blood flow)
115
ischemic bowel dz: causes, which is most common?
Cause - MC occlusion (embolus, thrombus); Nonocclusive (shock, cocaine- vasospasm)
116
chronic ischemic bowel dz: what causes it?
Chronic: mesenteric atherosclerosis of GI → inadequate perfusion esp @ splenic flexure - during postprandial states (usually come collateral flow) "intestinal angina"
117
ischemic colitis: MC cause, MC areas involved
MC caused by systemic hypotension or atherosclerosis involving SMA and mesenteric arteries. MC @ “Watershed” areas w/ decreased collaterals (splenic flexure and rectosigmoid jxn)
118
S+S ischemic colitis
LLQ pain w/ tenderness, bloody diarrhea (sloughing of colon)
119
intussusception occurs often after what kind of illness? in what area?
viral + ileocecal junction
120
dx of intussusception
US, Abd x ray (obstruction).barium contrast enema (Dx and therapeuric),
121
ROME IV criteria of IBS
Recurrent abd pain @ least 1day/week in last 3 months with at least 2...
Related to defecation, change in stool frequency, change in stool appearance.
122
meds for diarrhea vs constipation IBS
Diarrhea- anticholinergics (dicyclomine) antidiarrhea (loperamide)
Constipation - bulk-forming lax, osmotic lax. Lubipristone - activates intestinal Cl transporter. TCA (amitryptyline) for intractable pain.
123
3 types of colon polyps: what is the risk of each for malignancy
pseudopolyps/inflammatory: due to IBD. not CA
Hyperplastic: low risk of malignancy
Adenomatous polyps: avg 10-20yrs until cancerous (esp >1cm).
124
3 subtypes of adenomatous polyps and assoc risk
Tubular: non-pedunculated (MC and least risk)
Tubulovillous: intermediate risk
Villous: immobile, highest risk
125
pathophys of celiac (sprue)
small bowel autoimmune inflammation 2ry to alpha-gliadin in Gluten → loss of villi & abs areas → impaired fat abs.
126
nonobstructive, extreme colon dilation >6cm + S+S systemic toxicity.
toxic megacolon
127
txt for toxic megacolon
bowel decompression, bowel rest. NG tube, Abx, electrolyte repletion. Colostomy if refractory
128
gallbladder (cystic duct) obst by stone → inflammation/infection.
acute cholecystitis
129
MC cause of cholecystitis (bugs)
MC E coli, also klebsiella, enterococci, B. fragilis, Clostridium
130
what is + boas sign?
acute cholecystitis: referred pain to right shoulder/subscap area
131
US = thickened gallbladder >3mm. Increased WBCs, HIDA (GOLD) = nonvisualization of gallbladder
acute cholecystitis
132
txt acute cholecystitis
NPO, IV fluids, Abx ( ceftriaxone + metronidazole) → cholecystectomy (w/in 72hrs)
133
what medication can be given to help dissolve gallbladder cholesterol stones
ursodeoxycholic acid (ursodiol)
134
what is choledocholelithiasis? Dx? txt?
stones in common bile duct = ductal dilation (MC originate from gallbladder).
Dx w/ US then ERCP. Txt: ERCP extraction
135
cholangitis: acute vs primary sclerosing
Acute: biliary tract infection 2ry to obstruction (gallstones/malignancy). MC from gram - enteric that ascend from duodenum (E Coli, also klebsiella, enterobacter)
Primary sclerosing: autoimmune, progressive cholestasis, diffuse fibrosis of INTRAhepatic and EXTRAhepatic ducts.
136
primary sclerosing cholangitis: assoc w/ what bowel dz and what pt population?
MC assoc w/ IBD (UC). MC men 20-40y
137
charcot's triad and reynold's pentad
ACUTE CHOLANGITIS
Charcot’s triad (fever/chills, RUQ pain, jaundice).
Reynold’s pentad (+ shock, AMS)
138
S+S primary sclerosing cholangitis
jaundice, pruritus, hepatomegaly, splenomegaly
139
gold std to dx both kinda of cholangitis
cholangiogram w/ ERCP
140
leukocytosis, cholestasis (inc AP with inc GGT, bilirubin more than increased AST, ALT). US/CT shows dilated common bile duct.
acute cholangitis
141
Txt acute cholangitis vs primary sclerosing cholangitis
Acute: Abx against colonic bacteria → common bile duct decompression/stone extraction w/ ERCP
Primary sclerosing: liver transplant definitive. Stricture dilation to relieve symptoms
142
MC cause acute fulminant hepatitis (live failure)
tylenol OD
143
how will fulminant liver failure change PT/INR?
PT/INR > 1.5 (decreased clotting factors)
144
supportive and definitive txt for liver failure?
lactulose (neutralize ammonia), Rifaximin/neomycin (abx to breakdown bacteria producing ammonia in GI tract), protein restriction (reduces breakdown of protein into ammonia . liver transplant = DEFINITIVE txt
145
+/- hepatomegaly, spider angiomata, palmar erythema, gynecomastia. → ascites, peripheral edema, hepatic encephalopathy.
cirrhosis (alcoholic or fatty)
146
what types of hepatitis can lead to end-stage liver dz or hepatocellular carcinoma
only Hep B,C,D
147
labs of viral hepatitis
increased ALT > increased AST. both >500 if acute. (<500 if chronic). Incr bili
148
most chronic hep B is acquired how?
perinatally
149
HBeAg vs HBV DNA
HBeAg: (envelop antigen): increased viral replications and increased infectivity. >3mo incr chance developing chronic Hep B
HBV DNA: presence in serum = active replication in liver
150
what percentage of hep C cases become chronic?
80%
151
fatigue, weak, weight loss, muscle cramps. Ascites, gynecomastia, hepatosplenomegaly, spider angioma, caput medusae, jaundice, palmar erythema.
cirrhosis
152
how is hepatocellular carcinoma screened for?
alpha fetoprotein + US
153
txt for symptoms of cirrhosis (encephalopathy, ascites, pruritis, definative)
Encephalopathy: lactulose or rifaxamin, neomycin 2nd line.
Ascites: Na+ restriction → diuretics, paracentesis
Prutitis: cholestyramine
Liver transplant = DEFINITIVE,
154
hemachromatosis
hereditary - mutations of HH gene = increased intestinal Fe abs = Fe overload + tissue damage.
155
S+S hemachromatosis
symptoms not till >40 in men, after menopause in women. Fatigue, lethargy. Common sites - liver, heart, pituitary. Untxted can develop into cirrhosis, heart failure, DM2, etc.
156
Dx and txt of hemachromatosis
Dx: serum iron studies: high transferrin, high ferritin. + biallelic HFE mutation
Txt: great prognosis if identified early. - phlebotomy
157
wilsons dz
free copper accumulation in the liver, brain, kidney, cornea due to rare autosomal recessive d/o (ATP7B) → inadequate bile excretion of Cu + increased small intestine abs. = Cu deposition in tissues = cellular damage.
158
S+S wilsons dz
1. Basal ganglia deposition: parkinson-like symptoms (bradykinesia, tremor, rigidity), dementia. Personality + behavioral changes
2. arthralgias from deposition in joints.
3. Liver Dz: hepatitis, hepatosplenomegaly, cirrhosis, hemolytic anemia
4. Corneal copper deposit → Kayser-Fleicher rings
159
Dx of wilsons dz
decreased ceruloplasmin (serum carrier molecule for copper), increased urine copper excretion
160
3 options of txt for wilsons dz, which is the best?
1. *D-penicillamine: chelates copper (pyridoxine/VitB6 given to prevent depletion).
2. Zinc: enhances fecal Cu excretion + blocks intestinal abs. (for those who cant do chelation therapy or as maintenance add-on)
3. Ammonium tetrathiomolybdate: increases urine Cu excretion by binding to Cu.
161
origin of sac is LATERAL to inferior epigastric vessels.
indirect hernia
162
MC hernia
indirect inguinal
163
at what age does an umbilical hernia usually resolve on its own? when do you consider surgery?
2yo . Sx if >5yo
164
Dx of paraesophageal hernia
incidental imaging, barium swallow most sensitive.
165
MC cause of vitamin B3 (niacin) deficiency? "pellagra"
alcoholism
166
wet vs dry beriberi
types of thiamine deficiency:
Wet beriberi - cardiovascular system = high output HF from vasodilation and AV fistulas.
Dry beriberi - CNS =peripheral neuropathy, wernicke’s encephalopathy (AMS, ataxia, opthomalmoplegia), korsakoff psychosis (irreversible memory loss) .
167
what type of vitamin are these? Retinol (animal-dervied), beta carotene (plant-derived), caratinoids
Vitamin A
168
S+S vitamin A deficiency
night blindness, dry skin + hair, broken nails, weak immune system
169
Dx of vitamin A deficiency: what 4 labs are you looking at?
serum retinol or RBP (retinol-binding protein), check zinc + iron (affect metabolism of vit a)
170
how does vit D deficiency manifest differently in peds vs adults?
Rickets: bowing of legs- kids, osteomalacia - adults.
171
what vitamin are they deficient in ? muscle aches, diffuse pain, periosteal pain w/ pressure (esp sternum,tibia)
Vit D
172
Dx of vit D deficiency: what level of 25-OH Vit D is too low? what other lab will you check for secondary cause?
serum 25-OHVit D level (<20 is deficient). Check PTH to r/o 2ry hypoparathyroid
173
vit K deficiency S+S, peds and adults
its a key clotting factor- infants = hemorrhagic dz of newborn = spontaneous intracranial bleed, bruising, petichiae.
174
Dx of Vit K deficiency
differentiate from liver-failure-induced bleeding by checking factor V (not vit K dependent). PT increased PTT normal.
175
txt of Vit K deficiency: for acute bleeds? for infants?
FFP for acute bleeds, prevention - vit K shot for infants
176
while a trial of lactose elimination is MC used for Dx of intolerance, what lab can be done?
hydrogen breath test (produced when colonic bacteria ferment undigested lactose.
177
what is PKU?
autosomal recessive d/o of amino acid metabolism. Decr ability to metabolize phenalalanine into tyrosine b/c lack of phenyalanine hydroxylase (PAH) = accumulation of phenylalanine in fluids/plasma = phenylketone neurotoxicity.
178
at what age is PKU irreversible if not detected?
3yo
179
after birth w/ vomiting, mental delays, increased DTRs, irritable. MC blonde, blue eyed w/ fair skin. urine w/ musty odor
PKU
180
screening of PKU is done when?
screen at 24 wks gestation and within 1st wk.
181
txt of PKU ?
lifetime restriction of phenylalanine (milk, cheese, nuts, fish, chicken, meat, eggs, legumes, aspartame) + tyrosine supplement.
