GI/GU, Heme, Onco Flashcards
inability to retract foreskin
phimosis
physiologic (no tx) vs pathologic (tx required)
painful erection
irritation/bleeding
dysuria
phimosis
Phimosis treatment
stretching exercises wth moisturizer
topical corticosteroid (ie betamethasone)
circumcision
retracted skin in uncircumcised male that cannot be returned to natural position
paraphimosis
impaired venous flow - engorgement - arterial compromise
swelling of penis penile pain irritability in non-verbal infant edema and tenderness of glans penile shaft flaccid and unaffected color change if ischemia
paraphimosis
Paraphimosis treatment
medical emergency
manual reduction in office or ED for dorsal slit procedure
congenital anomaly that results in abnormal ventral displacement of urethra
Hypospadias and chordee (abnormal penile curvature)
abnormal foreskin
abnormal penile curvature
2nd opening (1 false)
Hypospadias
Hypospadias treatment
check normal penile length and curvature
refer to urology
circumcision NOT to be done during newborn period
surgery 6mo
testis not within the scrotum and does not spontaneously descend into scrotum by 4mo
suprascrotal most common
Cryptochidism
absent testicle UL or BL with flat underdeveloped scrotum
absent, undescended, retractile or ascending/ectopic
Cryptochidism
Cryptorchidism treatment
70% spontaneous descent (rare after 6mo)
surgery before 2yo
abrupt onset sever testicular or scrotal pain (may radiate)
n/v
edematous and erythematous scrotum
tender, swollen, slightly elevated testis
absent cremasteric reflex
- phren’s sign (+ = relief of pain when scrotum is elevated epididymitis)
Testicular torsion
Testicular torsion diagnostics and treatment
doppler US confirms
*medical emergency - immediate consult and surgical detorsion and fixation of both testes
within 4-6 hours = 100% viable
after 24 hours = 0% viable
younger children: fever vomiting irritability poor appetite
older children:
dysuria and/or frequency
new onset urinary incontinence
abdominal and back pain
Urinary Tract Infection (UTI)
Urinary Tract Infection (UTI) risk factors
female urinary tract anomalies sexual activity catheterization VUR
girls and uncircumcised boys under 2yo with at least 1 risk factor for UTI are most at risk
Urinary Tract Infection (UTI) diagnostics and treatment
UA and culture and sensitivity (C&S)
+ leukocyte esterase (produced when WBC dying)
+ nitrites (G- rods like E.coli)
full septic workup for neonates esp if febrile
*RBUS = 1st line imaging study
abx PO/IV empirically until sensitivity results - 7-14days
amoxicillin, augmente, cephalosporin, Bactrim
f/u UA/C&S not required
When to do RBUS
under 2yo with first febrile UTI
any age with recurrent UTI
UTI and +FH renal/urologic disease, poor growth, HTN
don’t respond to abx
retrograde flow of urine from bladder into upper urinary tract
Vesicoureteral Reflux (VUR)
hydronephrosis (swelling of kidney) prenatally
febrile UTI in odler child
Vesicoureteral Reflux (VUR)
Vesicoureteral Reflux (VUR) diagnostics and treatment
*voiding cystourethrogram (VCUG)
low dose prophylactic abx (i.e. Bactrim)
surgical options
aggressive screening with UA if UTI sxs
urinary incontinence during the day after 4yo or at night after 5yo (girls) or 6yo (boys)
Enuresis
Enuresis diagnostics and treatment
UA with specific gravity (can child concentrate urine? DM)
KUB
behavioral modifications vs pharmacology
timed voiding, increase hydration, no fluids 90min before bed
desmopressin (DDAVP - synthetic ADH) over 6yo
painful or painless urinating
parent complaining child’s urine is red or brown
check BP, edema, skin for purport, CVA and abd tenderness
Hematuria
Hematuria diagnostics
microscopic = 3+ RBCs per hpf urine cx if UTI suspected Ca/Cr ratio (over 2.0 abnormal) RBUS f/u yearly
gross = COLORED UA and cx BUN/Cr and Ca/Cr with GFR ASO and ANA titers (infection) RBUS
gross hematuria - dark colored urine elevated serum Cr edema HTN urine microscopy with elevated RBCs and *CASTS
Glomerular Disease (glomerulonephritis)
acute onset cola-colored urine
renal insufficiency
+ASO titer
recent infection with or without culture (1-2wk post infection)
Post-infectious glomerulonephritis (GN)
abd pain \+/- bloody diarrhea maculopapular purpuric rash renal involvement varies (often microhematuria) arthritis/arthralgia
Henoch-Schonlein Purpura (HSP) - GN
IgA autoimmune response to infectious process that may occur post-URI
bloody diarrhea
hemolysis
renal fault (hematuria)
electrolyte problems –> seizures
*associated with E.coli O157:H7 infection
Hemolytic-Uremic Syndrome (HUS)
*most common glomerular vascular cause of acute renal failure in childhood
microhematuria proteinuria HTN deafness visual disturbances
Alport syndrome
hereditary GN - autosomal dominant X-linked
Nephrotic Syndrome characteristics
nephrotic range proteinuria (over 1000mg/24hr)
hypoalbuminemia
edema (esp. of the face)
hyperlipidemia
2 presentations: "happy spitter" - growing well, healthy clinically "unhappy spitter" FTT fussy/dystonic neck posturing resp. complications feeding refusal occult blood in stool
Gastroesophageal Reflux (GER) GERD if sxs present
common under 6mo
Gastroesophageal Reflux (GER) treatment
positional therapy
elimination diet or change formula
thickened, small, frequent feeds
meds:
H2 blocker (ranitidine) under 1yo
PPI (lansoprazole) over 1yo
projectile, non-bilious vomiting after feeding
“hungry vomiter”
FTT and dehydration
distended upper and after feeding
prominent peristaltic waves L –> R
“olive” sized mass in RUQ
Pyloric stenosis
3-12wks old
Pyloric stenosis diagnostics and treatment
CBC, CMP
US test of choice
UGI if US non-diagnostic –> string sign
IV fluids and electrolytes
pyloromyotomy
bile-stained vomiting first 24-48hrs of life
mild abd distention
*failure to pass meconium
Congenital Atresia
Congenital Atresia types
duodenal (8-10wk gestation) - associated with trisomy 21
embryonic development
jejunoileal (over 11-12wk gestation) - associated with CF
uterovascular accident
colonic (least common)
unknown
Congenital Atresia diagnostics and treatment
CMP
KUB - double bubble sign for duodenal atresia
dilated loops of bowel and air fluid levels for J/C
UGI/contrast enema confirm dx and ID area of obstruction
IV fluids, electrolytes, possibly TPN
surgery
broad spec abx to prevent infection
bilious vomiting
abd pain, tenderness and distention
+/- hematochezia
visible peristalsis
Midgut malrotation +/- volvulus
under 1mo
Midgut malrotation +/- volvulus diagnostics and treatment
KUB
UGI - corkscrew appearance
barium enema to confirm (only as adjunct)
surgical intervention
intermittent, severe cramps abd pain cries and draws legs to chest vomiting - does not feed *currant-jelly* stools palpable sausage shape in RUQ
Intussusception
most frequent cause of intestinal obstruction in first 2yr of life
Intussusception diagnostics and treatment
CBC, CMP
abd US
IV fluids
surgical consult
air enema US-guided = reduces with 74% success
painless rectal bleeding
obstruction
diverticulitis
*can mimic appendicitis
Meckel’s Diverticulum
Meckel’s Diverticulum Rule of 2’s
2% population
2:1 M:F ratio
2% symptomatic
Meckel’s Diverticulum diagnostics and treatment
technetium-99 scan (Meckel’s scan)
surgical resection of diverticula and remnant (vitelline duct)
anorexia migrating abd pain (periumbilical to RLQ) vomiting after onset pain fever guarding rebound tenderness \+Rovsing, obturator and ileopsoas signs
Appendicitis
common in 2nd decade of life
rare under 5yo
Appendicitis diagnostics and treatment
H&P
US
elevated WBC
fluids, electrolytes and abx pre-op
appendectomy
failure to pass meconium in first 48-72hr of life
bilious vomiting
abd distention
reluctance to feed/irritable
older children: FTT and chronic constipation
“squirt” or “blast” sign with releasing finger from anal canal
Hirschsprung’s Disease
first 6wk of life
more than 20% develop enterocolitis
occurs secondary to absence of ganglion cells in the mucosal and muscular layers of the colon
peristaltic waves cannot extend beyond this zone of de-nervation
Hirschsprung’s Disease
most common cause of lower bowel obstruction in neonates
Hirschsprung’s Disease diagnostics and treatment
rectal biopsy is GOLD STANDARD
contrast enema
resection of aganglionic segment
colostomy
colorectal anastomosis after bowel has rested
diarrhea/abd pain \+/- hematochezia weight loss and growth failure arthritis uveitis nutrient deficiency and anemia
Inflammatory Bowel Disease
Crohn’s and Ulcerative colitis
20-30% present under20yo
more prevalent in whites
Inflammatory Bowel Disease diagnostics and treatment
colonoscopy
Crohn’s = skip lesions, cobblestone appearance
Ulcerative colitis = continuous involvement, erythematous
and friable mucosa with small erosions
disease maintenance (anti-inflammatories)
biologics and immunomodulating agents
steroids used for flare-ups ONLY
fever severe abd pain bloody stool/vomiting dehydration leukocytosis growth/development issues
Diarrhea
>3 watery stools per day
infectious vs diet related
Diarrhea treatment
hydration
abx sometimes
anti-motility agents rarely
\+/- fecal leakage (encopresis) abd discomfort decreased bowel sounds and distention stool mass may be palpated in LLQ anal/rectal exam --> fissures, anatomic placement, check for fecal impaction
Constipation
increased prevalence 5-6yo
Constipation red flags
weight loss/poor growth anorexia, fever, hematochezia, vomiting hx delayed passing of meconium acute onset failure to respond to conservative measures
Constipation diagnostics and treatment
CBC, CMP, TTG, IgA, TSH abd xray r/o impaction MRI spine (neuro) rectal biopsy (Hirschsprung's) barium enema (anatomical malformations)
decrease dairy intake polyethylene glycol to relieve impaction laxative therapy counseling GI referral if worse or alarming sxs
Neonatal and Breast Milk Jaundice
hyperbilirubinemia (indirect bili most commonly)
benign - resolves spontaneously
breast milk = appears in 1st wk of life
Pathological Jaundice
hyperbilirubinemia that requires intervention
diagnostics: serum bili maternal blood group and Ab titers baby blood group Coombs test (hemolytic anemia) CBC, retic count, peripheral smear septic/infectious workup
jaundice
dark urine
light stools
increase in direct bilirubin
treat with liver transplant
Post-Hepatic Jaundice (Biliary Atresia)
rare disease that destroys the bile ducts
lethargy
tachycardia
pallor
irritability and poor oral intake (infants)
Anemia (acute)
abnormal skin pigmentation
short stature
skeletal malformations
progressive pancytopenia
Fanconi anemia
autosomal recessive
up to 90% develop bone marrow failure in first 10yr of life
Fanconi anemia diagnostics and treatment
pancytopenia
bone marrow hypoplasia or aplasia (hypocellular)
*often misdiagnosed as ITP
supportive
hematopeoitic stem cell transplant (HSCT) is DEFINITIVE tx
weakness/fatigue
pillow
frequent, severe infections
purpura, petechiae, bleeding
Acquired Aplastic Anemia
Acquired Aplastic Anemia diagnostics and treatment
normocytic anemia
pancytopenia
low relic count
*overwhelming infection and severe hemorrhage are leading COD
supportive (transfusions)
stop offending agent
abx if infection
HSCT if absolutely needed
sometimes asymptomatic pallor fatigue/irritability played motor development hx of Pica (non-nutritive cravings)
Iron Deficiency Anemia
1-2yo and females of child-bearing age
AA and Hispanics more than whites
Iron Deficiency Anemia diagnostics and treatment
microcytic, hypochromic anemia
low Hgb and ferritin
close monitor iron supplement (6mg/kg/d)
pallor
glossitis
specific:
paresthesia, weakens, unsteady gait
decreased vibratory and proprioception
Megaloblastic Anemia
vitamin B12 deficiency (neuro deficits)
folic acid deficiency
Megaloblastic Anemia diagnostics and treatment
macrocytic (elevated MCV and MCH)
decreased folic acid and/or vitamin B12
*hypersegmented nuclei in large neutrophils
Vitamin B12 and/or folic acid supplementation
–> vit B12 shows methylmalonic acid
Congenital Hemolytic Anemias
Hereditary Spherocytosis (HS) Thalassemia Sickle Cell disease G6PD Deficiency lead poisoning
Hereditary Spherocytosis (HS)
hemolytic anemia
red cell membrane defect = trapped in spleen
jaundice, gallstones, splenomegaly
spherocytes on peripheral smear
*increased osmotic fragility
supportive, +/- RBC transfusion
splenectomy
Thalassemia (alpha or beta)
hemolytic, microcytic, hypochromic anemia
*Hbg electrophoresis for dx
supportive, +/- RBC transfusion
iron monitoring
splenectomy (wait intel at least 6yo)
HSCT for severe beta thalassemia
Sickle Cell disease
hemolytic anemia homozygous HbSS vaso-occlusion = PAIN (abd esp.) gallstones, jaundice, splenomegaly and functional asplenia growth failure and delayed puberty
Hgb electrophoresis
*Jolly bodies in asplenic pts.
avoid precipitating factors
*hydroxyurea helps painful episodes
stem cell transplant
G6PD deficiency
hemolytic anemia
red cell ENZYME defect with X-linked recessive inheritance
episodic hemolysis at times of exposure to oxidative stress or certain drugs/food substances
*Heinz bodies on peripheral smear (denatured Hgb)
supportive and avoid triggers
Lead Poisoning
mild hemolytic normocytic anemia
*basophilic stippling on peripheral smear
chelation therapy
splenomegaly and plethora (deep red color)
h/a and lethargy (increased blood viscosity = thrombosis)
elevated Hgb
tx: phlebotomy
Congenital Erythrocytosis (inherited polycythemia)
occurs in response to hypoxemia
tx: correction of underlying disorder (i.e. chronic pulmonary disease or cyanotic congenital heart disease)
phlebotomy when indicated
Secondary Polycythemia (acquired - more common)
Bleeding disorder screening
CBC
peripheral smear
PT/INR (extrinsic pathway - 7 and TF) - prothrombin time
monitor Warfarin tx
aPTT (intrinsic pathway - 8, 9, 11, 12) - activated partial thromboplastin time
+/- bleeding time (prolonged in platelet disorders)
differentiate von Willebrand disease vs hemophilia
multiple petechiae
ecchymosis
epistaxis
2-5yo most common and often following a viral infection
Idiopathic Thrombocytopenia Purpura (ITP)
most common bleeding disorder of childhood
immune-mediated against own platelets
Idiopathic Thrombocytopenia Purpura (ITP) diagnostics and treatment
thrombocytopenia
normal WBC and Hgb (unless hemorrhage)
normal PT and aPTT
*diagnosis of exclusion
90% have spontaneous remission *prednisone avoid NSAIDs/ASA (compromise platelet function) bleeding precautions IVIG for more severe bleeding splenectomy for emergent scenarios
prolonged bleeding from mucosal surfaces
epistaxis, menorrhagia, GI
easy bruising
von Willebrand Disease
most common INHERITED bleeding disorder
autosomal dominant
von Willebrand Disease diagnostics
normal PT prolonged or normal aPTT (vWF is a co-protein for factor 8) normal or decreased factor 8 normal or deceased vWF *prolonged bleeding time
von Willebrand Disease treatment
desmopressin (synthetic ADH) causes release of vWF and factor 8 from endothelium
vWF replacement therapy
bleed in response to injury/trauma or surgery
severe, spontaneous bleeding
onset of bleeding may be delayed by several days
commonly occurs INTO joints and muscles
–> spontaneous hemarthrosis is very severe and can lead to joint destruction and deformity
Hemophilia A and B
type A = factor 8 deficiency (rare)
type B = factor 9 deficiency (Christmas disease)
X-linked inheritance
Hemophilia diagnostics
normal platelet count, PT and bleeding time
prolonged aPTT (intrinsic pathway)
may be normal in mild disease
normal vWF
Hemophilia treatment
Desmopressin (type A) factor replacement (more effective)
shock (end organ dysfunction)
hematuria, petechiae, purpura
persistent oozing from needle puncture
evidence of thrombotic lesions
Disseminated Intravascular Coagulation (DIC)
hemorrhage and microvascular thrombosis
*clotting AND bleeding problem
Disseminated Intravascular Coagulation (DIC) diagnostics
decreased platelets
prolonged aPTT and PT
decreased fibrinogen level
increased D-dimer and fibrin degradation products
*everything is abnormal
Disseminated Intravascular Coagulation (DIC) treatment
ID and treat triggering event (sepsis, trauma or malignancy)
replacement therapy
anticoagulation therapy when indicated
Liver disease and vitamin K deficiency
Liver is major site of synthesis for:
prothrombin, fibrinogen, factors 5, 7, 9, 10, 12, 13
normal to low platelet count
prolonged PT and aPTT
Vitamin-K dependent factors include:
2, 7, 9, 10
normal platelet count
prolonged PT and aPTT
treat underlying condition and give vitamin K at birth
Inherited Thrombotic Disorders
Protein C, Protein S and Antithrombin deficiencies
Factor V Leiden Mutation
hypercoaguable
increased risk for thrombosis
may see DVT or PE
+ family hx thrombosis
Protein C deficiency
activated protein C inactivates activated factors 5 and 8
stops the clotting process when you don’t need it
pts may develop Warfarin-induced skin necrosis
Protein S deficiency
protein S is a cofactor that activated protein C to help stop the clotting process when you don’t need it
Factor V Leiden Mutation
more commonly seen – point mutation
factor 5 resistant to inactivation by activated protein C
35-fold increased risk of indecent VTE if taking oral contraceptives
Antithrombin deficiency
major physiologic inhibitor of thrombin
clinically presents as VTE
*efficiency of heparin may be significantly diminished
Inherited Thrombotic Disorders treatment
anticoagulation prophylaxis (UFH, LMWH, Warfarin) 1st episode VTE = anticoag for min 3mo
Henoch-Schonlein Purpura (HSP) diagnostics and treatment
most common small vessel vasculitis
boy 2-7yo
normal platelet (despite purpura)
elevated ASO titer
elevated serum IgA
supportive
uncontrolled proliferation of malignant lymphoid precursor clones
most common pediatric CA (3-7yo)
stain with TdT
pancytopenia with circulating blasts
bone pain
fatigue
Acute Lymphoblastic Leukemia (ALL)
uncontrolled proliferation of malignant myeloid precursor clones
stain with myeloperoxidase
*Auer rods on peripheral smear
pancytopenia with circulating blasts
bone pain
fatigue
Acute Myeloid Leukemia (AML)
Acute Leukemia (ALL/AML)
pancytopenia - pillow, tachycardia, SOB, ecchymosis, fever
infiltration of organs
skin
gum hypertrophy, CNS and thymic mass (ALL)
liver, spleen and nodes
Acute Leukemia (ALL/AML) diagnostics
*bone marrow biopsy confirms CBCD (blasts) and CMP flow cytometry (looks for abnormal WBC) coag tests (DIC) lumbar puncture if neuro sxs (ALL) uric acid
Acute Leukemia (ALL/AML) treatment
hydration transfusions PRN abx allopurinol or rasburicase to decrease uric acid \+/- allogenic transplant with chemo
may be asxs fever, dyspnea anorexia and early satiety (splenomegaly) weight loss night sweats
strikingly elevated WBC found on routine CBC
Chronic Myeloid Leukemia (CML)
translocation of philadelphia chromosome
Chronic Myeloid Leukemia (CML) treatment
*Gleevec (TKI) shuts down transcription/translation
hydrea (brings down WBC if too high)
allogenic transplant
monitor
painless, persistent LAD hepatosplenomegaly night sweats pruritic mediastinal bulky mass
Lymphoma (Non-Hodgkin’s or Hodgkin’s)
Non-Hodgkin’s Lymphoma (NHL)
slow professing to very aggressive in adults
high grade in children (requires treatment)
5th most common peds CA under 15yo
Hodgkin’s Lymphoma
bimodal (teens-30s, 50s)
EBV exposure
*Reed Sternberg cells on cytology
painful LAD after EtOH
supraclavicular nodes
Lymphoma (Non-Hodgkin’s or Hodgkin’s) diagnostics
*excisional node biopsy differentiates CBC, CMP, LDH (lactic dehydrogenase = cell turnover) uric acid CT neck, chest, abd, pelvis bone marrow biopsy for staging
2D ECHO if on Adriamycin (can cause DCM or leukemia)
pulmonary testing if on Bleomycin
Non-Hodgkin’s Lymphoma (NHL) treatment
chemo
autologous stem cell transplant
supportive (allopurinol/rasburicase)
steroids are toxic for lymphocytes
good prognosis
Hodgkin’s Lymphoma treatment
chemo +/- radiation (even in children)
stem cell transplant for relapse
increased risk for leukemia and other lymphomas
steroids are toxic for lymphocytes
Lymphoma staging
I - 1 area of nodes
II - 2 areas of nodes on 1 side of diaphragm
III - nodal sites on BOTH sides of diaphragm
IV - involvement of extranodal sites (i.e. bone marrow)
B sxs = night sweats, weight loss and bulky nodes
A = none of the above
E = extra nodal site contiguous with nearby node
pain and swelling
commonly femur or tibia
fever, malaise
weight loss
corresponds with growth spurts
Osteosarcoma
most common primary bone malignancy in children and adolescents
Osteosarcoma diagnostics and treatment
increased alk phos and LDH
MRI
CT for mets
*biopsy to confirm
surgery + chemo + radiation
pain and swelling
+/- fever
12% have urogenital anomalies
high chance of relapse
Ewing’s Sarcoma
peak 10-15yo
males
Ewing’s Sarcoma diagnostics and treatment
CBC, CMP, LDH
CT/MRI
PET if you think metastatic (commonly to lungs)
*biopsy to confirm
surgery chemo (cytoxan and doxyrubicin) +/- radiation
n/v seizures, syncope, hemiparesis papilledema dysphagia personality changes CN palsies FTT
Brain Tumor (metastatic vs primary)
glial more common than nonglial
2nd COD for neuro
Brain Tumor diagnostics and treatment
MRI confirms
f/u MRI indicated (progression vs. pseudo)
surgery +/- radiation (temodar) and chemo
abd mass/pain fever, weight loss Horner's syndrome bone pain anemia
can synthesize and secrete catecholamines
Neuroblastoma
most common solid neoplasm in children
40% adrenal gland
Neuroblastoma diagnostics and treatment
bone marrow biopsy
abd imaging
urine catecholamines
watch and wait if low risk
surgery (+ chemo if mets to spine)
under 1yo better prognosis
abd swelling
fever
hematuria
HTN
BL involvement in younger children
Nephroblastoma (Wilms tumor)
most common renal malignancy
under 15yo vs renal cell CA 15-19yo
Nephroblastoma (Wilms tumor) diagnostics and treatment
CT or MRI
chemo + surgery or surgery + chemo
leukocoria (white reflection from retina)
sporadic or genetic cause
deadly
Retinoblastoma
most common intraocular CA of childhood
Retinoblastoma diagnostics and treatment
opthal exam
intraocular US or CT
MRI
enucleation (removal of eye)
external radiation
chemo
affects soft tissue can resemble fat, muscle or fibrous tissue often in head/neck in younger children also orbit, GU, extremities very rare
Rhabdomyosarcoma
arises from primitive mesenchymal cells
Rhabdomyosarcoma diagnostics and treatment
MRI and CT or PET
surgery, chemo, radiation
Hepatic Tumors
commonly a primary tumor found by a family member
could be mets from Wilms tumor or rhabdomyosarcoma
hepatocellular CA 0-4yo and 10-14yo
hepatoblastoma under 5yo - R side of liver
both require additional imaging to ensure it is not a benign tumor (i.e. adenoma or hemangioma)
tx: surgical resection
