rhematology / renal Flashcards
juvenile idiopathic arthritis (pathophysiology, HLA, presentation)
- vascular endoth hyperplasia + cartilage erosion
- DR5/8
- Morning stiffness but pain later (no redness)
juvenile idiopathic arthritis - criteria
- less than 16 years 2. one or more joints, 3. more than 6 weeks 4. type by presentation in the first 6 months
- exclusion of other arthritis, vasculitis, and connect tis)
juvenile idiopathic arthritis - types and presentation
- pausiarticular: fewer than 5 joints, lower extremities (not hip), almost never upper
- polyarticular: 5 or more (large or small), like adults, Rheumatoid nobules (in severe) , may cervical
- systemic onset: visceral involvement, daily Q spikes (at least 39) for 2 or more wks, salmon migratory linear or circular rash (trank or extremities)
juvenile idiopathic arthritis - treatment
- NSAID 2. methotrexate (safest + most efficous 2nd line) 3. corticosteroids (overwhelming infl, systmemic illness, bridge treatment) 4. Opthalmol follow up
juvenile idiopathic arthritis - polyarticular - serology , major problems, outcome
- RF(+): older gitls, hand + wrist erosions, unremitting nodules –> poor
- ANA(+) –> younger girls –> good
- seronegatice –> variable prognosis
juvenile idiopathic arthritis - pauciarticular- serology , major problems, outcome
- RF(+): erosion + unremitting nodules –> poor
- ANA (+) –> younger girls, chronic iridocyclitis –> excelent (except eyes)
- HLAB27 –> older males –> good
- Sero (-) –> good
juvenile idiopathic arthritis - systemic - serology , major problems, outcome
pauciarticular –> good
polyarticular –> poor
SLE - HLA/age/sex/treatment
- HLA B8, DR2, DR3
- onset before age 8 is unusual / females
- NSAID (if no renal), methotrexate, biological drugs, anticoagulation in trombosis, steroids for kidney, cyclophosphamide for severe
pregnant woman with SLE
transfer IgG (usually anti-Ro) across placenta at 12-16 weeks –> variety of manifestations –> most important is congenital heart block –> all terminal except heart (permanent pacing)
Leading cause of acquired heart disease in US + japan / age of onset
Kawasaki (20% develop coron ar abnorm without treatment) / 80 are under 5 years old
Kawasaki - diagnostic criteria
- fever for 5 or more days nor improved with ibuprofen or acetaminophen + 4 the the following 5
1. not exudative conjuctivitis (bilateral)
2. rash (polymorphous non-vesicular) (diapered children may have perineal desquamation)
3. edema (or erythema of hands or feet)
4. adenopathy (cervical, often unilateral, 1.5 cm or more)
5. mucosal involvement (intraoral erythema, strawberry tongue, dry + cracked lips)
Kawasaki - other findings / cardiac findings?
irritability, asseptic mening, diarrhea, hepatitis, hydrops of gallbladder, urethritis, otitis media, arhtritis
Kawasaki - heart?
early myocarditis (50%) with tachycardia + decreased ventr function, pericariditis, coronary aneyrysm (2nd to 3rd week no evidence of long term hear disease if not coronary abnormalities within 2 months
Kawasaki - treatment + management
acute: IV globulin + high dose aspirin sabacute phase (no fever) low dose aspirin (3-5 mg/kg/day. Inf vaccine if in winter (Reye) management: 2D echo, repeat at 3 wks + if normal at 7 wks. Also ecg + follow platelets
Kawasaki - labs
normal to increased wbc, increased ESR, anemia (chronic disease), STERILE pyuria, hepatic transaminases, CSF pleocytosis,
platelets: high/normal in wk 1, significant increase in 2-3 wk (more than a million)
MCC of of nonthrombocytopenic purpura in children? / mechanism / epidimiology / definitive diagnosis
Henoch-Schonlein purpura
IgA - mediated vasculitis of small vessels (IgA + C3)
males , 2-8, winter / definitive diagnosis by skin biopsy
Henoch-Schonlein purpura - hallmark presentation
pink, maculopapular rash below waist, progress to peteechiae + purpura (red –> purple, rusty brown) crops over 3-10 days (at times in intervals up to 3-4 months)
Henoch-Schonlein purpura - labs
increased platelets, wbcs, ESR, IgA, IgM, anemia
urine RBCs, wbc, casts, albumin
anticardiolipin or antiphospolipids antibodies
Henoch-Schonlein purpura - treatment
- symptomatic for self limited
- steroids (oral or IV) in intestinal complications (dramatic improvement)
- same treatment for any renal disease if its involved
Henoch-Schonlein purpura - complications
- renal insufficiency/failure (less than 1% insufficiency
- -> less than 0.1% to failure) - bowel perforation
- scrotal edema
- testicular torsion
risk factors for urinary tract infection
female: wiping, sex, pregnancy
male: uncircumcised
both: vesicoulateral reflux, toilet-training, constipation, anatopic abnormalities
diagnosis for UTI
- urine culture (gold standard) 2. UA findings
need a proper sample (if toiled trained midstream collection)
possitive if more tan 50.000 (single pathogen) + pyuria
UTI treatment + follow up
cystitis: amoxicillin, TMP-SXM, nitrofurantoin
pyelon: oral antibiotics, unless hospitalization
follow up: urine culture in 1 wk after stopping antibiotics –> periodic reassessment for next 1-2 years
- US and cysteourethrogram in reccurent or other complications
vesiculateral reflex - pathogenesis / results
occurs when submucosal tunnel between mucosa + detrusor muscle is short or absent
- pyelonephritis –> scarring –> reflux neuropathy (hypertension, proteinria, end stage)
vesiculateral reflex - grading
- urine reflex into nondilated ureter (anyone)
- upper collecting system without dilation
- mild to moderate dilation of pelvis + ureter
- moderate dilation of ureter +/- tortuosity of ureter
- severe dilation + tortuosity of ureter, pelvis, calyces
vesiculateral reflex - diagnosis
VCUG for diagnosis + grading
renal scan for renal size, scarring + function (if scarring, follow creatinine
vesiculateral reflex - natural history
- increased scar in grade 5 (less with bilateral 5)
- majority of 1-4 regress (regardless age or uni/bilateral)
- tendency to resolve (6-7 years) (lower grade –> better chances)
vesiculateral reflex - treatment
- medical: based on reflux resolving
- careful monitoring for UTIs
- surgery if: medical fails, scar, worsening on VCUG or renal scan
Obstructive uropathy - clinical presentation
- hydronephrosis 2. upper abd or flank pain
- recurrent UTI 4. weak + decreased urinary stream
- failure to thrive 6. diarrhea 7. other non-specific
MCC of abd mass in newborns (and also other causes)
- hydronephrosis ureteropelvic junction obstruction
2. multcystic kidney disease
obstructive uropathy - diagnosis
- palpable abd mass
- US (prenatally)
- VGUG (in all congenital hydronehrosis + iin any dilation –> to rule out posterior urethral valves)
obstructive uropathy - common etiologies
- ureteropelic junction obstruction (MC, uni or bilateral)
- ectopic ureter (drains outsied bladder –> incontinence + UTIs)
- ureterocele (mostly girls)
- posterior urethral valves (mostly boys)
posterior urethral valves - characteristics
- MCC of severe obstructive uropathy
- mostly in boys
- can lead to end stage renal disease
- mild hydronephrosis to severe renal dysplasias
- palpable bladder and weak urinary stream
obstructive uropathy - diagnosis / treatment / complication
- diagnosis: VCUG complication: Potter disease (lung)
- treatment: decompress bladder with catheter, antibiotic (iv), transurethral ablation or vesicostomy
acute poststreptococcal glomerulonephritis - follows (and when) / complement activation through / symptoms
- follows: sore throat in cold weather (after 1-2 wks) or skin in warm (after 3-6 wks)
- alternative pathway
- classic triad: edema, hypertension, hematuria
acute poststreptococcal glomerulonephritis - diagnosis
- urianalysis (RBC casts, polymorphonuclear, protein),
- mild anemia (hemodilation + low hemolysis)
- low C3 (normal in 7wks)
- positive throat culture or increased antibodies to strep antigens
- biopsy if: ARF, nephrotic, more than 2 months, absence of strep, normal Complement
acute poststreptococcal glomerulonephritis - complications + treatment
- hypertension, ARF, CHF, electr abn, acidosis, seizures
- penicillin for 10d, sodium restriction, diuresis, fluid + elctr manegment, control hypertension
MC chronic glomerular disease worldwide - name/clinical presentation / treatment
- Berger disease (IgA nephropathy)
- Gross hematuria
- associated with URI or GI infection
- NORMAL C3
treatment: control hypertension
Alport syndrome - pathology, mode of inheritance, symptoms,
- Foam cells 2. XD 3. Asympt hematuria 1-2 d after UTI, hearing defects, occular abnormalitis
Alport syndrome - characteristics of hearing and occular abnormalities
- hearing: bilateral sensorineural, never congenital, females have subclinical
- occular: pathognomic is extrusion of central part of lens into anterior chamber
- MCC of nephrotic sindrome in adults
2. MCC of chronic glomerulonephritis in older children and young adults
- Membranous glomerulopathy
2. Membranoproliferative glomerulonephritis
MCC of ARF in young children (age) , manifestations, causes, pathophysiology
HUS less than 4 years old: microangiopathic hemolytic anemia, thrombocytopenia, uremua
causes: E.coli (also shigella, salmonella, campylobacter, viruses , drugs, idiopathic etc)
subendothelial + mesengial depositis of granular amorphous material –> vasc occlusion (endoth injury), glomerular sclerosis, cortical necrosis
5-10 DAYS AFTER INFECION
HUS - labs + rare complications / prognosis
labs: hb 5-9, helmet cells, burr cells, gragmented cells, reticulocytosis, WBC up to 30000, platelets 20-10000
complications: colitis, intessusceptions, perforations, heart diseaes
more than 90% survivr acute stage.small number EDRD
HUS - treatment
- fluid + electrolites monitor
- hypertension
- aggressive total parental nutrition
- early peritoneal dialysis
- no antibiotics if E.coli –> increased risk for HUS
- plasmapheresis or fresh frozen plasma - beneficial for HUS not associated with diarhea or severe CNS
AR polycystic kidney disease - pathophysiology
microcysts –> progressive intestinal fibrosis + tubular atrophy –> renal failure
also liver disease (50): bile duct prolif + ectasia with hepatic fibrosis
AR polycystic kidney disease - treatment / prognosis
more than 80% survive 10 years, ESRF in more than 50%, dialysis + transplantation
AD polycystic kidney disease - treatment
control BP (disease progression correlates with degree of hypertension)
types of proteinuria (and examples
- transient (fever, exercise, dehydration, cold, CHF, seizures, stress)
- orthostatic (mc in school aged, rule it out)
- fixed: glomerulal or tubular disorder (suspect in any patients with more than 1 g/24h or with hypetension, hematuria, or renal dysfunction
MC nephrotic syndrome in children and features of nephrotic syndrome
steroid-sensitive minimal change disease:
- more than 40/mg/m2/h protein
- hypalbuminemia (less than 2.5g/dL
- edema
- hyperlipidemia
minimal change disease - age, symptoms, extra labs test (except albumin + protein)
age: 2-6,
sympoms: common (diarrhea, abd pain, anorexia), uncommon (hypertension, gross hematuria)
- urine protein/cr more than 2)
- serum creatinine normal or slightly increased
- normal C3/4
minimal change disease - treatment, biopsy
- prednisone for 4-6 wks, then taper 2-3 months withiut biopsy –> biopsy if: hematuria, hypertension, HF, no response in 8 wks prednisone
- sodium restriction
- if severe: hospitilize, fluid restriction, IV 25% albumin infusio + then diuresis
- re-treat relapse: may be alternative agents (renal biopsy with evidence of steroid dependency)
minimal change disease - complications, prognosis
- infections (immunizations agains pneumonococcus, varieala , check PPD)
- MC is spontaneous bacter peritonitis (S. pneum)
- thromboembolism (if aggressive diuresis)
prognosis: children have relapses but decreased with age - if steroid resistance or segmental glomerulscloeris –> poorer prognosis
Undescended testes - common in, mechanisms, treatment, prognosis
common in preterm (inguinal canal or ectopic), should be descended by 4 months, surgery best at 6 months, but do it at 9-15 months (orchiopexy
if treated: bilateral 50-65% remain fertile, if unilateral 85%
if untreated or delay –> risk for malignancy (mc seminoma)
MCC of test pain over 12 / presentation / diagnosis / treatment
testicular torsion: acute pain, swelling, tenderness, retracted testis, no cremateric reflex, diagnosis with dolpper color / emergent surgery (scrotal orchipexy) if witin 6h, and less than 360 degrees, more than 90% survives
MCC of test pain at 2-11 / presentation / diagnosis / prognosis
appendix testes torsion: GRADUAL onset, 3-5 mm inflmaed mass at upper pole, resolves in 3-10 days with bed rest
diagnosis: blue spot seen through scrotal skin, US (if consider test torsion), scrotal exploration if still uncertain
testicular tumors - malignant?
65%
varicocele - age/ surgery if
age less than 10
surgery if significant different size of testes, pain o in contralateral testis is diseased or absent
epididymitis - definition presentation / labs / treatment
ascending, retrograde urethral infection –> acute scrotal pain + swelling (rare before puberty eps male)
lab: pyuria (N. gon or chlamydia but mc undetermined)
treatment: bed-rest + antibiotics
MCC childhood leukemia / poor progosis if / sign + symptoms / best test
ALL 77% / brief onset + nonspecific
poor prognosis if age less than 1 or more than 10 or more than 100.000 WBCs, chromosomal abnorm, slow response to therapy
- common: bone + joint pain (esp lower)
- bone marrow failure symptoms
- best test: bone marrow aspiration (lymph blasts)
- leukemic cells not see early
ALL is both postitive to / progosis
- CALLA (common ALL antigen)
- TdT
prognosis more than 80% survival in 5 yrs
ALL - complications
- relapse (20%): a. increased ICP or isloated CN palsies, b. testicular relapse in 1-2% of boys
- Pnumocysts + other infections
- Tumor lysis syndrome (after initial chemo) –> hyperurichemia, K+, Pi (+ low Ca2+) –> treat with hydration + alkalinization + allopurinol
ALL - treatment
- remission induction (98% remission in 4-5 wks with combination drugs
- second phase: CNS treatment (systemic + intrathecally)
- maintenance phase 2-3 years
Hodgkin - age / predisposition / 4 major histologic subtypes / pr
age: 15-19, predisposition: EBV + immunodeficiency
types: Lymph predominant, nob scleosis, Mixed, Lympocyte depleted (now considered as high grade non Hodgkin)
Hodgkin - clinical presentation
depends on location:
- painless firm cervical or supraclavicular nodes (MC)
- anterior mediastinam mass
- β symptoms, lethargy, anorexia, pruritus
Hodgkin - diagnosis / treatment / prognosis
diagnosis: extensional biopsy on node (preferred)
treatment: determined by stage, size, hilar nodes / chemo + radio
prognosis: overall cure 90% in early stage / 70 in more advance
non-Hodgkin - 3 histological subtypes
- Lymphoblastic usually T cells (mostly mediastinal masses)
- Small noncleaved cell lymphoma - B cells
- Large cells - T, B, or indeterminate cells
non-Hodgkin - presenation / diagnosis
presentation depends on location: respiratory symptoms in anterior mediasatinal mass, abdominal pain + mass, hemoatgenous spread
diagnosis: prompot because aggressive –> biopsu, any noninvasive test to determinate stage
non-Hodgkin - treatment + prognosis
surgical excision of abdominal tumors, chemo, monoclanal antibodies, +/- radiation
90 % ccure for stages I + II (stage: I-IV)
Rhabdomyosarcoma - site / increased frequency in
almost any site 1. head + neck - 40% 2. GI - 20% 3. Extremities - 20% 4. Trunk - 10% 5. Retroperitoneal + other - 10% Increased frequency in Neurofibromatosis
Rhabdomyosarcoma - types + features of every type
- Embryonal (60%) - intermediate prognosis
- Botryoid - vagina, uterus, bladder, naosopharynx (projects, graplike)
- Alveolar (15%) - very poor prognosis, trunk + extrem
- pleomorphic - adults, rare in children
Rhabdomyosarcoma - presentation / diagnosis
mass (painful or not), displacement or destruction of normal tissue, easy disseminated to lung + bone
diagnosis: Biopsy, CT, MRI, U/S, bone scan
Rhabdomyosarcoma - treatment
best prognosis with completely resected (most are not resectabele
chemo pre + postoperatively / radiation
Brain tumors / epidimiology / age / site / diangosis / visual changes due to
2nd MC malignancy i children / mortality 45%
less than 7 ages
Most are infratentorial
best initial test: CT / best imaginig : MRI
visual changes: CN 3 + 6
Infratentorial tumors - aggressiveness / types + locations / treatment + prognosis)
low grade / rarely invasive
- juvenila pilocytic astrocytoma (cerebellum, surgery radiation +/- chemo, resection –> 80-100% surv)
- Maligant astrocytoma (includes GBM)
- Medulloblastoma (midline cerebellar)
- Brain stem tumors (Diffuse instrict with very poor prognosis)
- Ependymoma (posterior fossa)
types of suratentorial tumors - types / epidimiology / invasiveness - presentation
- Craniopharyngioma (7–10% MC) - minimal invasive (Calcification) - panhypopituitarism, growth failure, visuall loss
- optic glioma:MC tumor of optic nerve - benign, slowly progressive, increased with NF - Unilatera visual loss. proptosis, eye deviateion, optic atrophy, strabismus, nystagmus
suratentorial tumors - treatment
craniopharyngioma - Surgery + radiation (NO CHEMO)
optic glioma - if chiasm: radiation/chemo / if proptosis with visual loss: surgery
Phemochromocytoma is associated with / retinal examination / treatment
- AD: NF, MEN, Tuberuous sclerosis, Strunger wber, ataxia telangiectasia
- eye: papiledema, hemorrhages, exudate
- treatment: removal (but high risk) / preoperative a+b blocker + fluids / need follow up
Pheochromocytoma - diagnosis
Most tumor with CT (best initial + MRI) but extradrenal masses are difficult
Can use I-131 metaiodobenzylguanide (MBIG) scan –> taken by chromafin tissue anywhere in body
Wilms tumor - aka / epidemiology / diagnosis
nephroblastoma: 2nd MC malignan abd tumor
age: 2-5, 7% is bilateral
best initial test: US
Abd CT for confirmation
prognosis: 54-97% have 4 year survival
Wilms tumor (nephroblastoma) - presentation / treatment
most asymptomatic abd mass / Hypertension if renal ischemia
treatment: surgery / then chemo + radio
if blateral (7%) unilateral nephrectomy + partial contralateral
neuroblastoma - gene / epidimiology / site
C-myc / 8%of childhood malignancies
site: any site, adrenal, retroperitoneal symp ganglia, cervical, thoracic, or pelvic ganglia
neuroblastoma - presentation
- firm palpable mass in flank or midlne, PAINFUL, with CALCIUM + hemorrhage
- initial presentaton: metastasis (lung, bones + skull, orbita;, bone marrow, lymph, liver, skin)
- ospomyoclonus + horner
neuroblastoma - treatment / diagnosis / stage
surgery, chemo, radition, stem cells (definitive)
diagnosis: plain xray, CT. MRI (best), spread evaluation (bone scan, bone marrow)
stage: 1 (organ of origin) to 4 (disseminated)
neuroblastoma vs pheo according to labs
pheo –> esp VMA + metanephrine (norepinephrine)
neuroblastoma –> esp HVA (dopamine)
Hypopituitarism - definition / etiology / DDX
deficiency of GH +/- other hormones. Due to congenital (AD, AR, X) or acquired (MC is cranioph)
DDX: systemic conditions (weight is less than height), constituitonal delay, familiar short stature, 1ry hypothyroidism, emotional deprivation
Congenital hypopituitarism - clinical presentation
normal size + weight at berth –> them severe Ggrowth failure in 1st year. Infants present with neonatal emergencies (apnea, hypogl seizures, hypothyroidism, hypoadrenalism in 1st wks) or boys with microphallus + small tests +/- cryptorchydis. Also variety of dysmorphic features
hypopituitarism - labs
- low serum IGF-1 or IGF binding-binding protein-3
- definitive test is GH stimulation
- other pituitary functions (other hormones)
- x-rays for destructive lesions
- Calcifications
- Bone age - skeletal maturation ,arkedly delayed
- MRI in all patients with hypopituitarism
hypopituitarism - treatment / GH use indications
recombinant GF / need periodic thyroid evaluation
Indications for GH: a. documented deficiency b. Turner c. ESRD before transplant d. Prader willi
e. Idiopathic pathologic short stature
f. IUGR without catch up growth by 2 years age
hyperpituitarism - etiology / test
- 1ry is rare. MOST are hormone-secreting adenomas.
- 2ry: Majortiy are deficiencies of target orgnas (negative feedback)
labs: 1. high low serum IGF-1 or IGF binding-binding protein-3 2. MRI 3. glucose suppression test (to confirm) 4. Thryroid test 5. Chromosomes esp in tall males (XXY, frangile X)
hyperpituitarism - management
- treatment only if prediction of adult height (BA) more than 3SD above the mean or if evidence of severe psychosocial impairment
- trial of sex steroids (accelerates puberty + epiphysial fusion)
Precocious puberty - definition / etiology
girls: sexual develop less than 8, boys 9
etiology, sporadic + familial in girls, hamartomas in boys
clinical presentation: advanced height, weight, + bone age, early epiphysial closure + early fast advancement Tanner stage
Precocious puberty - evaluation + treatment
screen: increased LH. Definitive: GnRH IV for a brisk LH respone. If (=) –> MRI
treatment: Leuprolide
Incomplete precocious puberty - types / definition / etiology etc
- premature thelarche: usually isolated, transient (from birth due to maternal estronges). May be 1st sign of true precosious puberty
- Premature adrenarche: early adrenal androgen production –> axillary, inguinal + genital hair –> familiar
- Premature menarche - very rare
causes of congenital hypothyroidism
most are 1ry / sporadic or familiar, with or without goiter a. MC is thyroid dysgenesis (hyposlasia, aplasia ectopia –> no goiter)
b. Defect in thryoid hormone synthesis (due to goitrous or AR)
c. transplacental passage of maternal TSH (transient / nmz antibodies)
d. Maternal antithyroid drugs e. Central
f. iodine deficiency or endemic goiter
g. Radioiodine exposure/fetal exposure to excessive iodine (typical iodine antiseptics) (rare in US)
- Hashimoto - age / 1st sign
- adolescent / 1st sign: deceleration of growth
Autoimmune polyglandular - types + manifestation
type 1: hypoparathyroidism, addison, Mucocutaneous candidiasis, small number with autoimmune thyroditis type 2 (Schmidt syndrome)L addison, DM1, +/- thyroditis
