Disease presentations and explanations Flashcards
Cause of blood in the stool in HSP
These occur in approx 50% of patients, about 1 week after dx.
Edema of the GI tract can cause damage to the vasculature and result in colicky abdominal pain and bleeding. Ultimate cause: vasculitis causing enlarged mesenteric lymph nodes, bowel edema and hemorrhage
causes of secondary immunodeficiency
HIV infection, DM, malnutrition, hepatic disease, autoimmune disease, aging, stress
primary immunodeficiencies
- severe combined immunodeficiency
- chronic granulomatous disease (phagocytic cell def)
- complement deficiency
reduces vertical transmission of HIV
Zidovudine (antiretroviral) given in 2nd trimester then given to infant through 6 weeks reduces transmission to < 10%
preferred testing for HIV in neonate
HIV DNA PCR -> must be done this way due to maternal antibodies
** use ELISA followed by Western blot in 18 mos or older
Disease status eval: HIV RNA activity, CD4 count, clinical findings
“severe”: CD4 < 200
“normal”: CD4 >500
used to prevent PCP infection in HIV+ infants
TMP-SMX prophylaxis started at 6 weeks
Pediatric antiretroviral regimen for HIV+
2 nucleoside reverse transcriptase inhibitors and 1 protease inhibitor
Nucleoside reverse transcriptase inhibitors:
1. didanosine
2. stavudine
3. zidovudine
Nonnucleoside reverse transcriptase inhibitors:
1. efavirenz
2. nevirapine
Protease inhibitors:
1. indinavir
2. nelfinavir
erythematous macular rash with satellite lesions
cutaneous candidiasis
recurrent oropharyngeal and cutaneous infections with delayed wound healing
recurrent sinopulmonary infections
leukocyte adhesion deficiency (LAD)
be suspicious if have birth wounds that aren’t healing and attached umbilical cord at 6 weeks
diminished/absent T cells
diminished/absent serum immunoglobulins
thymic dysgenesis
recurrent cutaneous, GI or pulm infections (CMV, PCP)
SCID
AR or X-linked
Thymic aplasia
Boot-shaped heart on XR
atypical facies (wide-set eyes, prominent nose, small mandible)
cleft palate
DiGeorge Syndrome
hypogonadism gynecomastia long limbs learning difficulties (spelling, reading, math) often not dx until puberty
Klinefelter syndrome
(extra X in males) -> the more X’s the more MR -> check IQ
**Note increased breast cancer risk which approaches that for females
males display explosive temper and aggressive or defiant behavior
long asymmetrical ears
XYY
Child is exclusively fed goat’s milk. What are the complications?
megaloblastic anemia (from folate or B12 def); also is iron-poor brucellosis (if not pasteurized)
congenital condition which the liver’s bile ducts are blocked and fibrotic, resulting in reduced bile flow into the bowel (since less bile salts have fat-soluble vitamin deficiency, ex: vit D)
biliary atresia
Surgical correction: Kasai procedure
Note: patient’s with liver failure are often treated with diuretics for ascites and this results in calcium loss in the urine -> higher risk for rickets)
Dental differences between rickets and familial hypophosphatemia
Rickets: enamel defects
Familial hypophosphatemia: intraglobular dentin deformities
lab value seen in all rickets cases
elevated serum alkaline phosphatase level
labs typical of low Vit D
decreased serum calcium and phosphorus
increased serum alkaline phosphatase and urine amino acids
caused by dystrophin gene deletion, resulting in proximal lower extremity weakness
Duchenne muscular dystrophy
-calf muscles show fat and fibrosis with absent dystrophin on immunochemistry staining
urinary tract anomaly anuria/oliguria in utero oligohydramnios pulmonary hypoplasia flat facies limb deformities
Potter sequence
decreased amniotic fluid can cause physical anomalies
most common cause of urinary tract obstruction in newborn boys
posterior urethral valves
Kawasaki disease vs Scarlet fever
Both have history of strep pharyngitis, but in scarlet fever it is “untreated strep pharyngitis”
Kawasaki has a blanching rash that includes the palms and soles. Swelling and erythema of the palms/soles.
Kawasaki has cervical lymphadenopathy of at least one lymph node.
Scarlet fever has a sandpaper rash that spares the palms and soles. It also has tonsillar exudates.
How much weight loss equals 1 L fluid loss?
1 kg
cool, clammy skin capillary refill > 3s cracked lips dry mucous membranes sunken eyes sunken fontanelle tachycardia lethargy
severe dehydration (10-15% volume loss)