GI Flashcards
Appendicitis definition, sx, dx, tx
*obstruction of the lumen of the appendix, resulting in inflammation & bacterial overgrowth
*MC 10-30yrs
*MC cause of acute abdomen in children 12-18yrs
Etiologies: fecalith & lymphoid hyperplasia MC, inflammation, malignancy or foreign body, lymphoid hyperplasia due to infection MC cause in children
sx
Classic presentation: anorexia & periumbilical or epigastric pain followed by RLQ pain (12-18hrs), N/V (vomiting usually occurs after the pain)
Retrocecal appendix 🡪 atypical pattern (diarrhea), + rectal or gynecologic examination; appendix may also be pelvic
Appendiceal inflammation stimulates nerve fibers around T8-T10, causing vague periumbilical pain – once the peritoneum becomes irritated, it radiates to the RLQ
PE: rebound tenderness, rigidity, guarding; retrocecal appendix may have atypical findings
*Rovsing: RLQ pain w/ LLQ palpation
*Obturator: RLQ pain w/ internal & external hip rotation w/ flexed knee
*Psoas: RLQ pain w/ right hip flexion/extension (raise leg against resistance)
*McBurney’s point tenderness: point 1/3 the distance from the ASIS & navel
dx
Adults – CT scan preferred
U/S, MRI – reserved for radiosensitive populations (pregnant, children)
In children 🡪 surgical consult often obtained prior to imaging to determine if imaging is needed, depending on the risk
tx
Refer to GI surgery STAT
Nonsurgical: may be treated w/ abx but high likelihood of recurrence
Surgical: appendectomy (laparoscopic preferred)
*board spectrum abx prior to surgery w/ gram neg & anerobic coverage
-cephalosporins + metronidazole
-piperacillin-tazobactam
Colic definition, sx, dx, tx
Severe & paroxysmal crying in the later afternoon to evening
Peaks 2-3mo, ends around 4mo
Very common, cause unknown
sx
*unexplained paroxysms of irritability, fussing, crying that may develop in agonized screaming
*an infant may draw up knees against the abdomen
Rule of 3s 🡪 cry > 3hrs/d, 3d/wk, for 3wks
dx
Complete history
PE: r/o pathology
tx
Parent education & reassurance
*DON’T SHAKE YOUR BABY
*assure them their baby is healthy & crying can increase & likely stop by 3-4mo
*assure them they are not to blame
*make sure the baby is not hungry, soiled, or tired
*swaddle, gentle motions, pacifier
*get help from family to get a break!
*possible formula switch or GERD tx
Constipation definition
Childhood constipation is a common & almost always functional w/o an organic etiology
Stool retention can lead to functional incontinence in some pts
<2 bowel movements/wk
>1 episode of encopresis/wk (poop in the rectum, loose stool leaks)
The MC triggers of constipation are transitioning to solid foods from breastmilk & formula, potty training, & starting school
*starting solid foods can lead to reduced fiber & fluid intake causing harder stools
*children may start to withhold stools when they start potty training or going to school – they may be scared to use the toilet itself or scared to use the toilet at school
Constipation sx
At least 2 of the following in a child w/ a developmental age <4 years
-less than 2 BM per week
-at least 1 episode of incontinence/week after the acquisition of tioleting skills
-hx of excessive stool retention
-hx of painful or hard BM
-presence of a large fecal mass in the rectum
-hx of large diameter stools that may obstruct the toilet
At least 2 of the following in a child w/ a developmental age of >4 years w/ insufficient criteria for IBS
- less than 2 BM in toilet /week
- at least 1 episode of fecal incontinence
- hx of retentive posturing of excessive voluntary stool retention
- hx of painful or hard BM
- presence of a large fecal mass in the rectum
- hx of large diameter stools that may obstruct the toilet
Constipation dx and tx
Often, medical hx & PE are sufficient to diagnose functional constipation
Further evaluation for Hirschsprung disease, a spinal cord abnormality, or a metabolic disorder may be warranted in a child w/ red flags:
*onset before 1mo of age
*delayed passage of meconium after birth
*failure to thrive
*explosive stools
*severe abdominal distention
Abdominal x-ray
tx
Increase fiber to 11-24g/day 🡪 wheat, fruits, veggies, fluids
Decrease cow’s milk 🡪 slows intestinal motility
*<24oz/d (16oz preferably)
Mineral oil 15-30mL/year of age/day
Polyethylene glycol 3350 (MiraLAX) 1.5g/kg/d
Lactulose 1mL/kg/d once or twice per day, single dose or in two divided doses
Fiber, decrease milk, increase fluids
Enema, bathroom training
Referral to a subspecialist is recommended only when there is a concern for organic disease or when constipation persists despite adequate therapy
Dehydration definition
Dehydration is a significant depletion of body water, and to varying degrees, electrolytes
Dehydration is typically divided into mild (3-5%), moderate (6-9%), & severe (≥10%) cases
In children, the most accurate signs of moderate or severe dehydration are prolonged capillary refill, poor skin turgor, & abnormal breathing
Other useful finings (when used in combination) include sunken eyes, decreased activity, a lack of tears, & dry mouth
A normal urinary output & oral fluid intake is reassuring
Laboratory testing is of little clinical benefit in determining the degree of dehydration; thus, the use of urine testing or U/S is generally not needed
Duodenal Atresia definition, sx, dx, tx
Complete absence or closure of apportion of the duodenum, leading to a gastric outlet obstruction
Risk Factors: polyhydramnios (increased amniotic fluid), Down Syndrome
Associated w/ other congenital defects
sx
Neonatal intestinal obstruction
*shortly after birth (within the first 24-38hrs)
*bilious vomiting
*abdominal distention
dx
Abdominal x-ray: double bubble sign
*distended air-filled stomach + smaller distended duodenum separated by the pyloric valve
Upper GI series: often performed preoperatively to assess the GI tract
tx
Decompression of the GI tract, electrolyte & fluid replacement
Duodenoduodenostomy 🡪 definitive
Encopresis (Fecal Incontinence) definition, sx, dx, tx
Definition: repetitive, voluntary or involuntary, passage of stool in inappropriate places by children ≥4yrs
Almost always associated w/ severe constipation: liquid stool leaks around a hard, retained stool mass & is involuntarily release through the distended anorectal canal
Seen predominantly in males
Causes:
*functional: chronic constipation
*emotional: school, divorce, etc.
sx
*abdominal pain, fecal mass
*dilated rectum packed w/ stool
*urinary frequency
Goal 🡪 daily, soft stools w/o pain every 1-2d w/o incontinence
dx
Rectal exam
KUB
tx
Acute treatment:
*Peg/MiraLAX
*glycerin suppository for infants up to 3d
Chronic treatment:
*elimination of all cow’s milk 1-2wk trial
*maintenance of laxatives for 6mo-1yr
*high fiber diet & increase fluids
*toilet sitting same time 5-10min after meals
Gastroenteritis: viruses
VIRUSES (75-90%):
1) Rotavirus – children <5y, peaks in cooler months
sx: S/SXS: generally begins w/ vomiting followed by watery diarrhea; high fevers in 1/3 of cases
DX: antigen detection via EIA, PCR
2) Norovirus – outbreaks in care centers, cruise ships
*MCC of foodborne disease outbreaks
sx: S/SXS: sudden onset vomiting, watery diarrhea, abdominal pain, fever
DX: PCR; stool antigen tests have lower s/s
3) Sapovirus, Adenovirus, Astrovirus – primarily <4yo
sx: S/SXS: milder than rota/nora; watery diarrhea (vomiting/fever less common)
DX: sapovirus/astrovirus: PCR; adenovirus: EIA
tx: supportive
Gastroenteritis: bacterial causes
1) Campylobacter jejuni – poultry, unpasteurized milk, untreated water, new pets, dairy farms
S/SXS: bloody diarrhea w/ severe abdominal pain, fever, occasional bacteremia
*Immune-Mediated Manifestations: Guillain-Barre, Miller-Fisher, reactive arthritis
DX: culture using selective media (preferred), EIA, PCR
TX: usually supportive; azithromycin x3d or erythromycin x5d can shorten duration when given early in illness
2) C. diff – spectrum: mild diarrhea – pseudomembranous colitis – toxic megacolon
S/SXS: fever, crampy abdominal pain, foul-smelling, watery stools
*Pseudo Colitis: diarrhea w/ blood/mucus, abdominal pain, fever, systemic toxicity
DX: two-step: enzyme immunoassay for glutamine dehydrogenase w/ confirmatory toxin testing by NAAT or toxin immunoassay
*CBC: leukocytosis; anemia possible if bloody
TX: metronidazole 30mg/kg/d divided 4x daily x10d; vancomycin 40mg/kg/d divided 4x daily x10d if severe; *fidaxomicin for continuous relapse
3) E. coli, Shiga-toxin-producing (STEC) – beef, greens, unpasteurized milk, petting zoos, person-person
S/SXS: hemorrhagic colitis w/ bloody diarrhea appearing 3-4d after sxs onset; *may cause HUS
DX: culture on sorbitol containing selective media, EIA for Shiga toxin – monitor: CBC/BUN/Cr for HUS
TX: supportive; abx not recommended d/t HUS risk
3) E. coli, Enterotoxigenic – “Traveler’s diarrhea” (resource-limited settings)
S/SXS: watery diarrhea, abdominal cramping
DX: clinic; PCR; *culture cannot distinguish from normal flora
TX: azithromycin or cipro x3d may ↓ duration
4) Nontyphoid Salmonella – poultry/beef, dairy, contaminated water, reptiles/amphibians, MC <4yo
S/SXS: diarrhea, abdominal cramps, fever
*Complications – bacteremia, osteomyelitis, brain abscess, meningitis
DX: stool culture
TX: initial dose of ceftriaxone followed by PO (azithromycin or amoxicillin or Bactrim)
* only in pts @ high risk of invasive disease – <3mo, chronic GI dz, HIV/immunocompromised
4) Salmonella typhi – humans are only hosts; resource-limited settings
S/SXS: initially – fever, malaise, myalgias, abdominal pain, constipation or bloody diarrhea; then – HSM & rose spots by wk2
*Associated w/ bacteremia & meningitis
DX: blood culture, bile culture, bone marrow aspirate *stool cultures often negative
TX: empiric – ceftriaxone or azithromycin; then definitive therapy based on cultures x7-14d
*steroids may be beneficial in children w/ enteric fever (delirium, coma, shock)
5) Shigella – infection requires low inoculum; childcare outbreaks
S/SXS: varies; watery stools w/o other sxs – bloody stools + high fever, abdominal pain, tenesmus
*S. dysenteriae – HUS; seizures, reactive arthritis
DX: stool culture
TX: azithromycin, ceftriaxone, or FQ
7) Vibrio cholerae – shellfish; “rice water diarrhea”
S/SXS: painless, watery diarrhea w/ significant electrolyte imbalances
DX: stool culture (must request selective media)
TX: single dose doxy or azithromycin; erythromycin, cipro, or tetracycline x3d
8) Yersinia enterocolitica – SWINE; pork, milk, well water, chitterlings, tofu; uncommon in US
S/SXS: fever, abdominal pain, bloody diarrhea in young children
*Pseudo-Appendicitis: mesenteric lymphadenitis w/ fever, abdominal pain/tenderness, leukocytosis – older children
DX: stool EIA or DFA
TX: parenteral 3rd gen ceph, Bactrim, aminoglycosides, FQs, tetracycline, doxy, chloramphenicol – only for neonates/IC
Gastroenteritis: parasitic causes
1) Giardia lamblia – daycare, camping trips, contaminated water; “backpacker’s diarrhea”
S/SXS: acute – watery diarrhea, foul-smell, flatulence, anorexia; can 🡪 FTT
DX: stool EIA or DFA
TX: tinidazole x1, metronidazole x5-10d, nitazoxanide x3d
2) Entamoeba histolytica – resource-limited
S/SXS: intestinal amebiasis MC – gradual onset bloody diarrhea, lower abd. pain, tenesmus, wt loss; complications: toxic megacolon, fulm. colitis
DX: stool O&P, serologic testing
TX: metronidazole or tinidazole then iodoquinol or paromomycin
GERD definition, sx, dx, tx
Gastroesophageal Reflux (GER): physiologic process of stomach contents regurgitating into esophagus
*NORMAL IN INFANTS
PATHO: transient LES relaxation allows gastric contents to flow in a retrograde direction up into the esophagus; decreased gastric compliance in infants
sx
Functional/Simple GER in Infancy: silent oral regurgitation, effortless spitting, or forceful vomiting
*Peak: 1-4mo
*Resolve: 12-18mo
GERD:
Esophagitis: crying, irritability, food aversion, heartburn, epigastric/chest pain, dysphagia/odynophagia, hematemesis, anemia, guaiac-positive stool
Respiratory: laryngospasm, bronchospasm, microaspiration pneumonia
Neurobehavioral: Sandifer syndrome (opisthotonic posturing, head tilting, sz-like activity); back arching
Infants: FTT; older children: heartburn, regurgitation
DX: clinical
Differentials, infant: pyloric stenosis, malrotation, allergic proctocolitis of infancy, eosinophilic esophagitis, colic
Differentials, older children: eosinophilic esophagitis, functional dyspepsia, H. pylori, peptic ulcer, achalasia, rumination, hiatal hernia
Testing to Consider:
*Upper GI series: to exclude malrotation, pyloric stenosis, webs, atresias
*Scintigraphy (“milk-scan”): detects delayed gastric emptying & pulmonary aspiration
*Impedance Probe: combined w/ pH monitoring to detect both acid & nonacid reflux
*Endoscopy: dx pathological mucosal disease
tx
Conservative: thicken formula w/ rice cereal, smaller-volume feeds, hold upright during/after feeding, sleep w/ head elevated, formula change
Antacid – magnesium hydroxide/aluminum hydroxide (Maalox, Mylanta)
H2Ras – ranitidine, famotidine
PPIs – omeprazole, lansoprazole, esomeprazole
Surgical: fundoplication – indicated for severe disease w/ failure of maximal medical therapy
Meckel’s (Ileal) Diverticulum definition, sx, dx, tx
*Persistent portion of embryonic vitelline duct (yolk sac, omphalomesenteric duct) in the small intestine
*MC congenital anomaly of the GI tract
Rule of 2’s: 2% of population, within 2ft from ileocecal valve, 2% symptomatic, 2in in length, 2 types of ectopic tissue (gastric-MC, pancreatic), 2yrs MC age at presentation, 2x MC in males
PATHO: ectopic gastric or pancreatic tissue may secrete digestive hormones, leading to bleeding
sx
*usually asymptomatic – often incidental finding during abdominal surgery for other cause
*painless rectal bleeding or ulceration
*pain *periumbilical
Infants 🡪 intussusception, volvulus, obstruction
Adults 🡪 diverticulitis
dx
Meckel scan: looks for ectopic gastric tissue in the ileal area
Mesenteric arteriography
Abdominal exploration
tx: surgical excision if symptomatic
Neonatal Hepatitis definition, sx, dx, tx
Idiopathic hepatic inflammation during the neonatal period
MCC of cholestasis in the newborn
Incidence is 1/5,000-10,000 live births, MC in males
sx
Transient jaundice, acholic stools 🡪 liver failure, cirrhosis, portal HTN
Presenting features in the first week of life include jaundice & hepatomegaly in 50% of pts
*FTT & more significant liver disease occurring later in infancy in 33% of pts
The course of the disease is generally self-limited, with full recovery during infancy in as many as 70% of pts
dx
Diagnosis of exclusion
Based on clinical presentation, results of liver bx, & exclusion of other causes of cholestasis
tx
Supportive
*decreased fat absorption may lead to growth failure & vitamin deficiencies; increased nutritional supportive w/ concentrated calories, use of medium-chain-triglyceride-containing formulas, & provision of fat-soluble vitamins ADEK are indicated; TPN may be needed in growth remains problematic
*Ursodeoxycholic acid, a bile acid, is used to enhance bile flow & to reduce bile viscosity; not used until biliary obstruction has been excluded as a possibility
*liver transplant may be necessary in cases of severe liver failure
Hep A transmission, sx, dx, tx
Fecal-oral
sx
Prodromal sxs:
*anorexia, N/V
*fatigue, malaise, arthralgias, myalgias
*HA, photophobia
*pharyngitis, cough, coryza
1-2wks later 🡪 jaundice, +/- RUQ pain
Dark urine, clay-colored stools – may appear 1-5d before onset of jaundice
dx
Acute: IgM anti-HAV
Past exposure: IgG anti-HAV
LFTs: ↑ AST/ALT & bilirubin
tx
No treatment needed (self-limiting)
Post-Exposure Prophylaxis:
*healthy, age 1-40: HAV vaccine preferred over immunoglobulin (within 2wks of exposure)
*immunocomp, chronic liver disease: HAV vaccine + HAV immunoglobulin (within 2wks)
Hep B transmission, sx, dx, tx
Sex & blood
sx
Prodromal sxs:
*anorexia, N/V
*fatigue, malaise, arthralgias, myalgias
*HA, photophobia
*pharyngitis, cough, coryza
1-2wks later 🡪 jaundice, +/- RUQ pain
Dark urine, clay-colored stools – may appear 1-5d before onset of jaundice
dx
HBsAg (surface antigen): (+) in acute & chronic
Anti-HBs (surface antibody): (+) if recovered/immunized
Anti-HBc (core antibody):
*acute: IgM
*chronic/recovered: IgG
HbeAg (envelope antigen): replicative (chronic)
Anti-Hbe (envelope antibody): non-replicative (chronic)
LFTs: ↑ bilirubin
*acute: AST/ALT in the thousands
*chronic: AST/ALT in the hundreds
HBV DNA: best way to assess viral replications activity
Liver bx
tx
Supportive – majority will not become chronic
Chronic Mgmt:
*antiviral therapy may be indicated if persistent, severe sxs, marked jaundice, (bilirubin >10), inflammation on liver bx, ↑ ALT or (+) HB envelope antigen present
*entecavir, tenofovir
*tx can be stopped after confirmation pt has cleared HBsAg
Vaccine: derived from yeast, CI if allergic to baker’s yeast
*infant: given @ birth, 1-2mo, 6-18mo
*adult: 3 doses @ 0, 1, 6mo
Hep C transmission, sx, dx, tx
Blood (IVDU MC)
sx
Prodromal sxs:
*anorexia, N/V
*fatigue, malaise, arthralgias, myalgias
*HA, photophobia
*pharyngitis, cough, coryza
1-2wks later 🡪 jaundice, +/- RUQ pain
Dark urine, clay-colored stools – may appear 1-5d before onset of jaundice
dx
Screening test: HCV antibodies
Confirmatory: HCV RNA
Acute: (+) HCV RNA, (+/-) anti-HCV
Resolved: (-) HCV RNA, (+/-) anti-HCV
Chronic: (+) HCV RNA, (+) anti-HCV
USPSTF Screening Guidelines:
*one time screening for all adults 18-79yo
tx
w/o cirrhosis:
*sofosbuvir + (velpatasvir or daclatasvir) x12wks or
*glecaprevir + pibrentasvir x8wks
w/ compensated cirrhosis:
*sofosbuvir + velpatasvir x12wks or
*glecaprevir + pibrentasvir x12wks or
*sofosbuvir + daclatasvir x24wks
w/ decompensated cirrhosis:
*sofosbuvir + velpatasvir x24wks or
*sofosbuvir + daclatasvir x12wks
Hep D transmission, sx, dx, tx
Blood
sx
Prodromal sxs:
*anorexia, N/V
*fatigue, malaise, arthralgias, myalgias
*HA, photophobia
*pharyngitis, cough, coryza
1-2wks later 🡪 jaundice, +/- RUQ pain
Dark urine, clay-colored stools – may appear 1-5d before onset of jaundice
dx
Screening: total anti-HDV – confirmed by immunochemical staining of liver bx for HDAg or RT; PCR assays for HDV RNA in serum (HBV serologies also performed)
tx
No FDA approved management
PEG-INF x12mo
Liver transplant definitive
Prevention: hepatitis B vaccine
Hep E transmission, sx, dx, tx
Fecal-oral
sx
Prodromal sxs:
*anorexia, N/V
*fatigue, malaise, arthralgias, myalgias
*HA, photophobia
*pharyngitis, cough, coryza
1-2wks later 🡪 jaundice, +/- RUQ pain
Dark urine, clay-colored stools – may appear 1-5d before onset of jaundice
dx
LFTs: ↑ AST/ALT, bilirubin
IgM anti-HEV: (+) = infected
tx
No treatment needed (self-limited) – not associated w/ a chronic state
Highest mortality due to fulminant hepatitis during pregnancy
Hirschsprung Disease definition, sx, dx, tx
*congenital megacolon due to an absence of ganglion cells, leading to a functional obstruction
*MC in the distal colon & rectum
Risk Factors:
*males:females 4:1, Down Syndrome, Chagas disease, MEN II
PATHO:
*failure of complete neural crest migration leads to an absence of enteric ganglion cells (Auerbach & Meissner plexuses)
*this leads to failure of relaxation of the aganglionic segment & subsequent functional obstruction
sx
Neonatal intestinal obstruction
*meconium ileus (failure of meconium passage >48hrs)
*bilious vomiting, abdominal distention
*no stool in rectal vault
*failure to thrive
Enterocolitis:
*vomiting, diarrhea, signs of toxic megacolon
Chronic constipation in older children w/ milder disease
dx
Contrast enema
*transition zone (caliber change) between normal & affected bowel
Anorectal manometry
*increased anal sphincter pressure
*lack of relaxation of the internal anal sphincter w/ balloon rectal distention
Rectal biopsy – definitive
*rectal suction bx usually performed
Abdominal x-ray: decreased or absence of air in the rectum + dilated bowel loops
tx: Resection of the affected bowel segment
Inguinal Hernias direct vs indirect, sx, tx
Indirect: (MC!!)
*bowel protrusion @ internal inguinal ring
*LATERAL to inferior epigastric artery
Direct:
*MEDIAL to the inferior epigastric artery
*Hesselbach’s triangle: “RIP” rectus abdominis, inferior epigastric, poupart’s (inguinal) ligament
*MC found on the right side
sx
Asymptomatic: swelling or fullness at the hernia site; enlarges w/ increased intraabdominal pressure &/or standing; may develop scrotal swelling
Incarcerated: painful, enlargement of an irreducible hernia
Strangulated: ischemic incarcerated hernias w/ systemic toxicity
tx
Surgical repair
Strangulated: surgical emergency!
Umbilical Hernias definition and tx
Hernia through the umbilical fibromuscular ring
Congenital (failure of umbilical ring closure)
- usually due to loosening of the tissue around in the ring in adults
tx
Observation: usually resolves by 2yrs of age
Surgical repair
Intussusception definition, sx, dx, tx
Telescoping (invagination) of an intestinal segment into the adjoining distal intestinal lumen, leading to bowel obstruction – MC occurs at the ileocolic junction
MCC of bowel obstruction in children 6mo-4yrs
Risk Factors:
*children (2/3 seen between 6-18mo of age), males, commonly seen after viral infections
*lead points: idiopathic MC, Meckel diverticulum, enlarged mesenteric lymph nodes, hyperplasia of Peyer’s patches, tumors, submucosal hematomas (HSP), foreign body
sx
Triad: vomiting + abdominal pain + passage of blood per rectum
*“currant jelly” stools
*abdominal pain usually colicky in nature
PE:
*sausage-shaped mass in the RUQ or hypochondrium + emptiness in the RLQ (Dance’s sign) due to telescoping of the bowel
dx
U/S: best initial test
*donut or target sign
Abdominal x-ray: lack of gas in the bowels
Air or contrast enema (air MC used)
*diagnostic + therapeutic
tx
Fluid & electrolyte replacement most important initial steps, followed by NG decompression
Intussusception reduction
*pneumatic (air) or hydrostatic (saline or contrast) decompression (air preferred)
*admit for observation (10% recurrence within 24hrs of treatment)
Surgical resection if refractory to insufflation
Pyloric Stenosis definition, sx, dx, tx
Hypertrophy & hyperplasia of the pyloric muscles, causing a functional gastric outlet obstruction (preventing gastric emptying into the duodenum)
*MC cause of intestinal obstruction in infancy
Risk Factors:
*MC in the first 3-12wks of life
*erythromycin use (within the first 2wks of life)
*Caucasians, males 4:1, first-borns
sx
*nonbilious projectile vomiting
*+/- signs of dehydration, weight loss, malnutrition
PE:
*palpable pylorus: “olive shaped” nontender, mobile hard mass to the right of the epigastrium
dx
Abdominal U/S
*elongated, thickened pylorus
Upper GI series:
*string sign (thin column of barium through a narrowed pyloric channel), delayed gastric emptying
*railroad track sign: excess mucosa in the pyloric lumen resulting in 2 columns of barium
Labs: hypokalemia, hypochloremic metabolic alkalosis
tx
Initial: rehydration (IV fluids) & potassium replacement
Definitive: pyloromyotomy
Neonatal Jaundice: pathologic vs physiologic
Physiologic (unconjugated):
-unconjugated hyperbillirubinemia AFTER 1st 24 hours of life
-Ttoal bili rises SLOWER than 0.3 per hr
-Total bill less than 18
- Lasts less than one week
- no sx of serious illness
Pathologic (unconjugated OR conjugated)
- unconjucated hyperbili occurs WITHIN 1st 24 hours of life
- Total bili rises FASTER than 0.2 in 1 hr
Total bili greater than 18
- Lasts greater than 1 week
-sx of serious illness
Neonatal Jaundice work up and tx: conjugated vs unconjugated
Unconjugated:
- Coombs test
-HGB
- reticulocytes
- LDH
- Haptoglobin
- if these are elevated consider blood smear and electrophoresis
tx: phototherapy, transfusion if severe
Conjugated:
- AST
- ALT
- Alk phos
- albumin
- PT
- PTT
-aPTT
dx:
- if all normal = dubin Johnson syndrome
- high ALT/AST: cirrhosis work up
- high alk phos: post hepatic obstruction
Lactose Intolerance definition, sx, dx, tx
About
Inability to digest lactose due to low levels of lactase enzyme
Lactase enzyme production normally declines in adulthood, esp. in AA, Asians, & South Americans
sx
*loose stools, abdominal pain
*flatulence, borborygmi (rumbling stomach)
*sxs appear after ingestion of lactose
dx
Clinical – sxs improvement after a trial of lactose-free diet
Hydrogen breath test – test of choice
*hydrogen produced when colonic bacteria ferment the undigested lactose
tx
*lactose-free diet
*use of enzymes: lactase enzyme preparations
*Lactaid (prehydrolyzed milk)
Niacin Deficiency definition, sx, dx, tx
Sources of B3 (niacin/nicotinic acid): meats, grains, legumes, yeast, corn w/ alkali (tortilla), seeds
Etiologies:
*diets high in untreated corn 🡪 lacks niacin & tryptophan
*diets which lack tryptophan
*alcoholism, anorexia, malabsorption
*Carcinoid Syndrome: increased tryptophan metabolism due to the production of serotonin
*Hartnup Disease: decreased tryptophan absorption in the kidneys & small intestine
sx
Pellagra (4 Ds):
*dermatitis
*diarrhea (+/- vomiting)
*dementia
*death (if untreated)
Dermatitis: photosensitive hyperpigmented dermatitis (esp. on sun-exposed areas)
Dementia: disorientation, anxiety, delusions, encephalopathy
dx
Urinary N-methylnicotinamide
Erythrocyte NAD:NADP ratio
tx
Niacin replacement
*children 9-13: 12mg/d
*adult males (19+): 16mg/d
*adult females (19+), lactation: 14mg/d
*pregnancy: 18mg/d
Vitamin A Deficiency definition, sx, dx, tx
Vitamin A function: vision, immune function, embryo development, hematopoiesis, skin, & cellular heath (epithelial cell differentiation)
Sources: kidney, liver, egg yolk, butter, green leafy vegetables
Risk Factors:
*pts w/ liver disease, alcoholics, fat-free diets
*fat malabsorption (CF, Crohn ileitis, short bowel syndrome, bariatric surgery)
sx
Visual changes:
*night blindness
*xerophthalmia (dry eyes)
*retinopathy
Impaired immunity
*poor wound healing, frequent infections
Follicular hyperkeratosis – dry skin
*poor bone growth, taste loss
*Squamous metaplasia (conjunctiva, respiratory epithelium, urinary tract)
Bitot’s spots: white spots on the conjunctiva due to squamous metaplasia of the corneal epithelium
dx
Clinical
Decreased serum retinol levels
*<20mcg/dL
tx
Vitamin A replacement
*infants 6-12mo: 100,000IU/d
*children 12-59mo: 200,000IU/d
Vitamin C Deficiency definition, sx, dx, tx
Risk Factors:
*diets lacking raw citrus fruits & green vegetables (excess heat denatures vitamin C)
*smoking, illicit drug use, alcoholism
*malnourished, elderly
Sxs can occur after 3mo of deficient intake
sx
Scurvy 3Hs
Hyperkeratosis:
*hyperkeratotic follicular papules (often surrounded by hemorrhage), coiled hairs
Hemorrhage:
*vascular fragility (due to abnormal collagen production) w/ recurrent hemorrhages in gums, skin (perifollicular), & joints
*impaired wound healing
Hematologic:
*anemia, glossitis, malaise, weakness
*increased bleeding time
dx
Clinical
Serum ascorbic acid levels
Leukocyte ascorbic levels more accurate
tx
Vitamin C replacement (ascorbic acid)
*children: 100mg TID x1wk 🡪 once daily until recovered
*adults: 300-1000mg/d x1mo
*generalized sxs can improve within days, hematologic sxs improve within weeks
Vitamin D Deficiency definition, sx, dx, tx
Low bone turnover + decreased osteoid mineralization (osteomalacia) &/or cartilage at the epiphyseal plates (Rickets)
Adults 🡪 osteomalacia
Children 🡪 Rickets
sx
Osteomalacia:
*diffuse bone pain & tenderness
*muscular weakness
*bowing of long bones
Rickets:
*delayed fontanel closure, growth delays
*delayed dentition
*genu varum (lateral bowing of the femur/tibia)
dx
↓ calcium, phosphate
↓ 25-hydroxyvitamin D
*sufficiency: 20-100ng/mL
*insufficiency: 12-20ng/mL
*deficiency: <12ng/mL
tx
Vitamin D supplementation
*infants: 400IU/d
*children 1-18: 600IU/d
*infants who are exclusively breastfed require vitamin D supplementation
