CCF Review Flashcards
Congenital Glaucoma vs Cataracts
The classic presentation of congenital or early-onset glaucoma is corneal clouding, photophobia, and chronic or intermittent tearing.
The presentation of congenital cataracts is highly variable, but findings may include asymmetric red reflex, leukocoria, nystagmus, strabismus, and photophobia.
Main difference: tearing
Nasolacrimal duct obstruction- no photophobia
DMD Heterozygote Health Monitoring
Cardiac surveillance is recommended for female carriers, who may develop cardiomyopathy.
Most common virus in children and adults with cold symptoms
Rhinovirus is the most frequently implicated pathogen in children and adults, accounting for almost 50% of cases of upper respiratory tract infections.
Rhinovirus infection occurs mostly in autumn through spring.
Rhinovirus is the preferred response choice given the clinical presentation of mild upper respiratory tract illness in a child returning to school after summer vacation
Per protocol vs intention to treat analysis for randomized controlled trials
When intention-to-treat analysis is used in a prospective randomized controlled study, the analysis includes data from all patients who were randomly assigned to a group even if they did not complete the study. Using intention-to-treat analysis can eliminate bias that arises from additional factors, such as earlier discharge of children with mild symptoms who are not receiving treatment.
Vitamin K in Newborns
Vitamin K is essential for the function of factors II, VII, IX, and X, affecting both the intrinsic and extrinsic coagulation pathways and thereby prolonging both the prothrombin time and the partial thromboplastin time.
Neonatal vitamin K deficiency bleeding can occur at any time from birth to 6 months of age and can be classified as early (within 24 hours), classical (1-7 days after birth), or late (2 weeks–6 months after birth).
Acne Tx
A topical retinoid should be included in the treatment of adolescents who have moderate or severe acne.
Obstruction within follicles should be addressed, even if blackheads and whiteheads are not observed.
Extensive inflammatory acne (ie, involving the trunk, as well as the face) requires treatment with an oral antibiotic.
Congenital Adrenal Hypoplasia Labs
Hyponatriemia, hyperkalemia, hypotension, dehydration
Congenital Adrenal Hypoplasia Genes
DAX-1 X linked
SF1 AR
Congenital Adrenal Hypoplasia Presentation
2 weeks old FTT Jaundice Hypoglycemia Emesis
Triple A Syndrome
Allgrove Syndrome
AAAS gene coding for ALADIN
ACTH resistance, alacrima, and achalasia
Cause of HTN in mineralocorticoid excess
Elevated 11 deoxycorticosterone (DOC)
CYP11B1 Defects
11B hydroxylase
Mineralocorticoid excess, virilization in girls, hypoK, HTN
CYP17 Defects
17a hydroxylase
Mineralocorticoid excess, virilization in girls, hypoK, HTN -> Ca channel blockers
Causes cortisol and androgen deficiency-> virilization in boys and puberty failure in girls
Liddle Syndrome
Mineralocorticoid excess due to epithelial sodium channel activation causing absorption of sodium
HTN with low aldosterone and renin
Adrenocortical Tumor Symptoms and Labs
High androgens leading to precocious puberty with secondary characteristics but small testes in males
Low LH and FSH
CYP21A Defect
Salt wasting or simple virilizing CAH
Virilization in girls
Give glucocorticoids and mineralocorticoids
Late onset - only give glucocorticoids
Dx: measure 17-hydroxyprogesterone (random or ACTH stim) for ideal screening. >10000 is classic form, ~1000 non classic
Non classical CAH - mild enzyme deficiency with excess androgens as main issue
CYP11A1 Defects
Lipoid hyperplasia
Virilization in males
All enzymes are low
Give glucocorticoids and mineralocorticoids
3BHSD2 Defect
Low aldosterone, cortisol, and androgens
High DHEA -> virilization of females, but since DHEA is a weak androgen, males can also have poor formation of genitalia
Pheochromocytomas
VHL
RET (MEN2A and 2B)
NF1
SDHB/SDHD - head and neck paragangliomas + pheo
Graves Disease
Ab against TSH receptor causes increased T4
Graves vs Subacute Thyroiditis
Same levels (high T4, low TSH)
Graves causes increased production of T4 and has TSI Ab
Subacute Thyroiditis has only increase T4 release not production so no increase in uptake scan
Increased PTH Effect
Works bone osteoclasts and renal tubular phosphate to decrease absorption
Increases 1-25 D3 to increase gut calcium absorption
Vitamin D Deficiency
Tetany
Seizures - lack of vit D in winter, then spring have sunlight which causes rapid calcium serum decrease to deposit in bones leading to hypocalcemia seizures
Rachitic Rosary
Growth Failure
Frontal Bossing
Widening and/or subluxation of wrists, knees, and ankles - cartilage not calcified causing bending and susceptibility to trauma
Rickets Labs
Low phosphorus, calcium, 25-D
High PTH, alkaline phosphatase
Type 1 Rickets
Deficiency of hydroxylase enzyme that converts 25-D to 1,25D
Need to give 1,25D to bypass pathway, regular vit D3 will not work
Type II Rickets
Hypophosphatemic Rickets Phosphate leak at renal proximal tubule AD or X linked dominant Cannot degrade the FGF-23 Calcium normal thus normal PTH Low phos Normal calcium, 25-D Low/normal 1-25D Normal/high PTH Need to give 3x/day phos +/- 1-25D, which can cause hypercalcuria and urine calcium needs monitoring prevent stones and scarring
Fetal Thyroid Development and Influence of Mom
Mom’s pituitary-thyroid axis does not influence thyroid development, negligible TSH and T4 cross the placenta
Levothyroxine in Infants
May be crushed and added to breast milk, water, formula
May not mix with soy based formulas
Congenital Hypothyroidism Signs and Symptoms
Prolonged jaundice Umbilical hernia Constipation Macroglossia Feeding problems Distended abdomen Hypotonia Hoarse cry Large posterior fontanelle Dry skin Hypothermia Goiter
Euthyroid Sick Syndrome
Low T4 and T3
Low to normal TSH
In stress states, no treatment needed
Reuptake Iodine Scan
Increased uptake with increased production
Decreased uptake if increased release
Painful vs Non Painful Thyroiditis
Painful = subacute
Not painful = autoimmune
Neonatal Graves Disease
Give methinazole to suppress thyroid completely
Once T4 suppressed, add levothyroxine
Stop both at same time around 6 months of treatment
Subacute Thyroiditis
Painful
Decreased uptake because causes increased release not production
Anti-thyroid medications, no effect
Can use beta blockers, ASA, and glucocorticoids in extreme cases
Subclinical Hypothyroidism
Normal T4 and slightly elevated TSH
Renal Insufficiency Rickets
High phosphorus given limited excretion Low calcium due to low vit D High PTH since low calcium Elevated BUN and Cr Low/normal 25-vit D3 Low 1,25-D3
Hypoparathyroidism Labs
Low calcium
High phosphorus
Low to normal PTH
Type I vs II Pseudohypoparathyroidism
Type I: cherubism, brachydactyly/spade like hand, short stature, DD; low calcium, high phosphorus, and high PTH; 2/2 cAMP not generated properly
Type II: cAMP generated properly but some resistance that blunts renal response to PTH: may need 1,25-D3
mL of water per 1kg
1000mL or 1L per 1kg
Volume of Na distribution in extracellular fluid volume
0.6 L/kg x weight in kg
Maintenance Electrolyte Requirement
1 mEq of K per kg/day
2 mEq of Na per kg/day
3 mEq of Cl per kg/day
Equation for Estimating Free Water Excess or Deficit
(Desired Na - Current Na) x 5ml x body weight in kg
Positive = excess Negative = deficit
Fractional excretion of sodium equation
FEna = ((Una x Pcr) / (Ucr x Pna)) x 100
<1% = dehydration >1% = acute renal insufficiency
Nephrotic Syndrome Labs and Causes
Proteinuria
Elevated cholesterol
Edema
Minimal change disease FSGS MPGN HSP SLE HUS
Nephrotic Syndrome Tx
6 weeks daily prednisone with total clearance
Difficulty with those who relapse often and consider other options such as cyclophosphamide, chlorambucil, or cyclosporine
Complications of Nephrotic Syndrome
Peritonitis- must be ruled out when fever and abdominal pain. S. Pneumoniae and E. coli
Vascular thrombosis or PE- sudden onset pain or color change in an extremity
FSGS
Very poor response to steroids
Very poor prognosis even with high dose cyclosporine and IV methylpred
High in African American males due to APOL1 gene (homozygous)
If heterozygous, protective against t. brucei, sleeping sickness
MPGN
Girls, around 8 years
Hematuria and HTN
Complement C3 decreased
Tx: low dose steroids (to avoid worsening HTN) every other day
Many still develop renal insufficiency
Congenital Nephrotic Syndrome
Edema Massive protein loss Many die of E. coli sepsis AR Need peritoneal dialysis and albumin infusions until renal transplant
IgA Nephropathy
Mild hematuria during acute illness, but may become gross during the illness
Bx identical to HSP
Baseline microscopic hematuria
Post Strep Glomerulonephritis
HTN, edema, and hematuria
Membranous Glomerulonephritis
Usually an infant with suspected syphilis infection or was adopted from a country where HepB carriage is high
Episodic Hematuria and persistent microscopic hematuria
Low C3 level Renal Diseases
Post strep Glomerulonephritis
MPGN
SLE
Infants < 1 year with concern for renal disease management
Renal bx to assess for diffuse mesangial sclerosis characteristic of congenital nephrotic syndrome
Renal Disease Dx by Age
< 1 year - congenital nephrotic syndrome
8 years and younger - minimal change disease, high cholesterol
MPGN - in teens and females
FSGS - teens in males, high cholesterol
AIN - usually drug hx
Membranous Glomerulonephritis- teens but very rare, usually adopted child or suspected congenital syphilis
Etiology of HTN in Childhood - 1-6 years
Renal parenchymal disease Renovascular disease Coarc of the aorta Endocrine Less commonly iatrogenic or essential HTN
Etiology of HTN in Childhood - 6-12 years
Renal parenchymal disease Renovascular disease Essential HTN Coarc of the aorta Less commonly endocrine and iatrogenic
Etiology of HTN in Childhood - 12-18years
Essential HTN
Iatrogenic
Renal parenchymal disease
Less commonly Renovascular disease, endocrine, and coarc
Most common cause of severe HTN
Renal artery stenosis
HTN Work Up
UA RFP Fasting lipids Echo Renal US with Dopplers
Anion Gap Formula
Na - (Cl + HCO3)
Acidosis with Normal Anion Gap
Renal loss of bicarb RTA Carbonic anhydrase inhibitors Posthypocapnia GI loss of bicarb Diarrhea Ileostomy drainage, fistula Ileal conduits Administration of cation exchange resins Administration of acid Arginine chloride, hydrochloric acid Parenteral nutrition Dilution acidosis
Difference Between Type I and Type II RTA
Reaction when giving an acid (ammonium chloride)
Type I (distal) - inability to excrete acid and cannot drive urine pH to 5.5 or lower
Type II (proximal) - if low bicarb, would not be able to increase/reabsorb bicarb and urine pH is greater than 7
Serum Osmolarity Equation
(2xNa) + (glucose/18) + (BUN/3)
PKU as Teratogen
IUGR
ID
Microcephaly
Structural defects - congenital heart disease
Phe is 70-80% higher in fetus as mom’s level
Homocystinuria
Screening: methionine
Dx: methionine and homocysteine
Defect: cystathionine beta synthase
Tx: betaine, folate, pyridoxine, or all three depending on defect; ASA for anti-coagulation
Galactosemia
Screening: GALT
DX: GALT electrophoresis
Tx: galactose and lactose free diet, sucrose only
MCAD
Screening: carnitine profile
Dx: repeat above and genetic testing
Tx: carnitine, frequent feedings, and avoid hypoglycemia
OTC
XLR
Screen: increased glutamine, decreased citrulline and arginine, increased urine orotic acid
Dx: AA profile, UOAs
Tx: protein restriction, citrulline, NH3 scavengers
Gaucher
Dx: glucocerebrosidase assay
Clinical: thrombocytopenia, excessive bleeding, pathologic fx, mild to severe ID (types II/III)
Defect: B glucosidase
Tx: symptomatic, ERT
Tay Sachs
Dx: hexoaminidase A assay
Hurler
MPS I
Screening: quantitative urinary MPS
Dx: iduronidase
Tx: stem cell replacement, ERT
Hunter
MPS II only MPS inherited as XLR Screen: urinary MPS Dx: iduronate sulfatase deficiency Tx: stem cell/ERT
Metabolic Acidosis DDX Chart
No gap: GI, renal, CAH, galactosemia
Gap:
- Hypoglycemia:
— Hyperammonia - if ketones, OAs; if no ketones, FAOD/OAs
— Ammonia normal - AA/CHO/OAs - Glucose Normal
— Ammonia normal - OAs
— Hyperammonia - UCDs/AA/OAs
Holt Oram Syndrome
Heart Hand Congenital heart disease ASD>VSD Finger like or absent thumb Radial hypoplasia TBX5 transcription factor
Thanatophoric Dysplasia
AD
Short limbs, curved long bones, narrow thorax-> lung hypoplasia -> death
FGFR3
Goldenhar Syndrome
Sporadic
Hemifacial microsomia (some bilateral), external and middle ear anomalies, micrognathia, epi bulb ar dermoids, colobomata, cervical spine anomalies
Conductive hearing loss, FTT, ID (10%), CHD (10%), cleft palate (10%)
Stapedial artery disruption leading to first and second branchial arch hypoplasia
Common features with Treacher Collins but TC is symmetric and AD
Russell- Silver
Sporadic, can be AD/AR/maternal UDP for chromosome 7 in 10%
Prenatal or postnatal growth decline, macrocephaly, large fontanelle, blue sclerae, triangular face, limb asymmetry
Hypoglycemia in infants and toddlers
Cornelia de Lange
Nipped B like gene also called delangin
Rett Syndrome
XLD
MECP2 gene
CHARGE
Coloboma Heart Choanal atresia Retarded growth GU Ear
VACTERL
Vertebral Anal Cardiac TE fistula/esophageal atresia Renal Limb
Klippel Feil Anomaly
Sporadic, can be AD/AR
Short, webbed neck, cervical vertebral fusion, some with hearing loss, laryngeal deformities, CHD, rib anomalies, upper limb defects, GU
Genetically heterogeneous, some due to growth factors 3 or 6
DDX: basal nevus syndrome, Wildervanck
Smith Magenis
17p11 deletion
Trichorhinophalangeal Syndrome
8q24 deletion
Miller Dieker
17p13 deletion
