CCF Review

Question 1

Congenital Glaucoma vs Cataracts

Answer 1

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

Question 2

DMD Heterozygote Health Monitoring

Answer 2

Cardiac surveillance is recommended for female carriers, who may develop cardiomyopathy.

Question 3

Most common virus in children and adults with cold symptoms

Answer 3

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

Question 4

Per protocol vs intention to treat analysis for randomized controlled trials

Answer 4

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.

Question 5

Vitamin K in Newborns

Answer 5

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).

Question 6

Acne Tx

Answer 6

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.

Question 7

Congenital Adrenal Hypoplasia Labs

Answer 7

Hyponatriemia, hyperkalemia, hypotension, dehydration

Question 8

Congenital Adrenal Hypoplasia Genes

Answer 8

DAX-1 X linked

SF1 AR

Question 9

Congenital Adrenal Hypoplasia Presentation

Answer 9

2 weeks old
FTT
Jaundice
Hypoglycemia 
Emesis

Question 10

Triple A Syndrome

Answer 10

Allgrove Syndrome
AAAS gene coding for ALADIN
ACTH resistance, alacrima, and achalasia

Question 11

Cause of HTN in mineralocorticoid excess

Answer 11

Elevated 11 deoxycorticosterone (DOC)

Question 12

CYP11B1 Defects

Answer 12

11B hydroxylase

Mineralocorticoid excess, virilization in girls, hypoK, HTN

Question 13

CYP17 Defects

Answer 13

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

Question 14

Liddle Syndrome

Answer 14

Mineralocorticoid excess due to epithelial sodium channel activation causing absorption of sodium

HTN with low aldosterone and renin

Question 15

Adrenocortical Tumor Symptoms and Labs

Answer 15

High androgens leading to precocious puberty with secondary characteristics but small testes in males
Low LH and FSH

Question 16

CYP21A Defect

Answer 16

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

Question 17

CYP11A1 Defects

Answer 17

Lipoid hyperplasia
Virilization in males
All enzymes are low
Give glucocorticoids and mineralocorticoids

Question 18

3BHSD2 Defect

Answer 18

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

Question 19

Pheochromocytomas

Answer 19

VHL
RET (MEN2A and 2B)
NF1
SDHB/SDHD - head and neck paragangliomas + pheo

Question 20

Graves Disease

Answer 20

Ab against TSH receptor causes increased T4

Question 21

Graves vs Subacute Thyroiditis

Answer 21

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

Question 22

Increased PTH Effect

Answer 22

Works bone osteoclasts and renal tubular phosphate to decrease absorption

Increases 1-25 D3 to increase gut calcium absorption

Question 23

Vitamin D Deficiency

Answer 23

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

Question 24

Rickets Labs

Answer 24

Low phosphorus, calcium, 25-D

High PTH, alkaline phosphatase

Question 25

Type 1 Rickets

Answer 25

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

Question 26

Type II Rickets

Answer 26

``` 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 ```

Question 27

Fetal Thyroid Development and Influence of Mom

Answer 27

Mom’s pituitary-thyroid axis does not influence thyroid development, negligible TSH and T4 cross the placenta

Question 28

Levothyroxine in Infants

Answer 28

May be crushed and added to breast milk, water, formula May not mix with soy based formulas

Question 29

Congenital Hypothyroidism Signs and Symptoms

Answer 29

``` Prolonged jaundice Umbilical hernia Constipation Macroglossia Feeding problems Distended abdomen Hypotonia Hoarse cry Large posterior fontanelle Dry skin Hypothermia Goiter ```

Question 30

Euthyroid Sick Syndrome

Answer 30

Low T4 and T3 Low to normal TSH In stress states, no treatment needed

Question 31

Reuptake Iodine Scan

Answer 31

Increased uptake with increased production Decreased uptake if increased release

Question 32

Painful vs Non Painful Thyroiditis

Answer 32

Painful = subacute Not painful = autoimmune

Question 33

Neonatal Graves Disease

Answer 33

Give methinazole to suppress thyroid completely Once T4 suppressed, add levothyroxine Stop both at same time around 6 months of treatment

Question 34

Subacute Thyroiditis

Answer 34

Painful Decreased uptake because causes increased release not production Anti-thyroid medications, no effect Can use beta blockers, ASA, and glucocorticoids in extreme cases

Question 35

Subclinical Hypothyroidism

Answer 35

Normal T4 and slightly elevated TSH

Question 36

Renal Insufficiency Rickets

Answer 36

``` 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 ```

Question 37

Hypoparathyroidism Labs

Answer 37

Low calcium High phosphorus Low to normal PTH

Question 38

Type I vs II Pseudohypoparathyroidism

Answer 38

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

Question 39

mL of water per 1kg

Answer 39

1000mL or 1L per 1kg

Question 40

Volume of Na distribution in extracellular fluid volume

Answer 40

0.6 L/kg x weight in kg

Question 41

Maintenance Electrolyte Requirement

Answer 41

1 mEq of K per kg/day 2 mEq of Na per kg/day 3 mEq of Cl per kg/day

Question 42

Equation for Estimating Free Water Excess or Deficit

Answer 42

(Desired Na - Current Na) x 5ml x body weight in kg ``` Positive = excess Negative = deficit ```

Question 43

Fractional excretion of sodium equation

Answer 43

FEna = ((Una x Pcr) / (Ucr x Pna)) x 100 ``` <1% = dehydration >1% = acute renal insufficiency ```

Question 44

Nephrotic Syndrome Labs and Causes

Answer 44

Proteinuria Elevated cholesterol Edema ``` Minimal change disease FSGS MPGN HSP SLE HUS ```

Question 45

Nephrotic Syndrome Tx

Answer 45

6 weeks daily prednisone with total clearance Difficulty with those who relapse often and consider other options such as cyclophosphamide, chlorambucil, or cyclosporine

Question 46

Complications of Nephrotic Syndrome

Answer 46

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

Question 47

FSGS

Answer 47

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

Question 48

MPGN

Answer 48

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

Question 49

Congenital Nephrotic Syndrome

Answer 49

``` Edema Massive protein loss Many die of E. coli sepsis AR Need peritoneal dialysis and albumin infusions until renal transplant ```

Question 50

IgA Nephropathy

Answer 50

Mild hematuria during acute illness, but may become gross during the illness Bx identical to HSP Baseline microscopic hematuria

Question 51

Post Strep Glomerulonephritis

Answer 51

HTN, edema, and hematuria

Question 52

Membranous Glomerulonephritis

Answer 52

Usually an infant with suspected syphilis infection or was adopted from a country where HepB carriage is high Episodic Hematuria and persistent microscopic hematuria

Question 53

Low C3 level Renal Diseases

Answer 53

Post strep Glomerulonephritis MPGN SLE

Question 54

Infants < 1 year with concern for renal disease management

Answer 54

Renal bx to assess for diffuse mesangial sclerosis characteristic of congenital nephrotic syndrome

Question 55

Renal Disease Dx by Age

Answer 55

< 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

Question 56

Etiology of HTN in Childhood - 1-6 years

Answer 56

``` Renal parenchymal disease Renovascular disease Coarc of the aorta Endocrine Less commonly iatrogenic or essential HTN ```

Question 57

Etiology of HTN in Childhood - 6-12 years

Answer 57

``` Renal parenchymal disease Renovascular disease Essential HTN Coarc of the aorta Less commonly endocrine and iatrogenic ```

Question 58

Etiology of HTN in Childhood - 12-18years

Answer 58

Essential HTN Iatrogenic Renal parenchymal disease Less commonly Renovascular disease, endocrine, and coarc

Question 59

Most common cause of severe HTN

Answer 59

Renal artery stenosis

Question 60

HTN Work Up

Answer 60

``` UA RFP Fasting lipids Echo Renal US with Dopplers ```

Question 61

Anion Gap Formula

Answer 61

Na - (Cl + HCO3)

Question 62

Acidosis with Normal Anion Gap

Answer 62

``` 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 ```

Question 63

Difference Between Type I and Type II RTA

Answer 63

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

Question 64

Serum Osmolarity Equation

Answer 64

(2xNa) + (glucose/18) + (BUN/3)

Question 65

PKU as Teratogen

Answer 65

IUGR ID Microcephaly Structural defects - congenital heart disease Phe is 70-80% higher in fetus as mom’s level

Question 66

Homocystinuria

Answer 66

Screening: methionine Dx: methionine and homocysteine Defect: cystathionine beta synthase Tx: betaine, folate, pyridoxine, or all three depending on defect; ASA for anti-coagulation

Question 67

Galactosemia

Answer 67

Screening: GALT DX: GALT electrophoresis Tx: galactose and lactose free diet, sucrose only

Question 68

MCAD

Answer 68

Screening: carnitine profile Dx: repeat above and genetic testing Tx: carnitine, frequent feedings, and avoid hypoglycemia

Question 69

OTC

Answer 69

XLR Screen: increased glutamine, decreased citrulline and arginine, increased urine orotic acid Dx: AA profile, UOAs Tx: protein restriction, citrulline, NH3 scavengers

Question 70

Gaucher

Answer 70

Dx: glucocerebrosidase assay Clinical: thrombocytopenia, excessive bleeding, pathologic fx, mild to severe ID (types II/III) Defect: B glucosidase Tx: symptomatic, ERT

Question 71

Tay Sachs

Answer 71

Dx: hexoaminidase A assay

Question 72

Hurler

Answer 72

MPS I Screening: quantitative urinary MPS Dx: iduronidase Tx: stem cell replacement, ERT

Question 73

Hunter

Answer 73

``` MPS II only MPS inherited as XLR Screen: urinary MPS Dx: iduronate sulfatase deficiency Tx: stem cell/ERT ```

Question 74

Metabolic Acidosis DDX Chart

Answer 74

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

Question 75

Holt Oram Syndrome

Answer 75

``` Heart Hand Congenital heart disease ASD>VSD Finger like or absent thumb Radial hypoplasia TBX5 transcription factor ```

Question 76

Thanatophoric Dysplasia

Answer 76

AD Short limbs, curved long bones, narrow thorax-> lung hypoplasia -> death FGFR3

Question 77

Goldenhar Syndrome

Answer 77

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

Question 78

Russell- Silver

Answer 78

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

Question 79

Cornelia de Lange

Answer 79

Nipped B like gene also called delangin

Question 80

Rett Syndrome

Answer 80

XLD | MECP2 gene

Question 81

CHARGE

Answer 81

``` Coloboma Heart Choanal atresia Retarded growth GU Ear ```

Question 82

VACTERL

Answer 82

``` Vertebral Anal Cardiac TE fistula/esophageal atresia Renal Limb ```

Question 83

Klippel Feil Anomaly

Answer 83

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

Question 84

Smith Magenis

Answer 84

17p11 deletion

Question 85

Trichorhinophalangeal Syndrome

Answer 85

8q24 deletion

Question 86

Miller Dieker

Answer 86

17p13 deletion