PE
D
IA
TR
IC
S
(W
O
LT
ER
S
KL
U
W
ER
)-
AR
U
N
BA
BU
SA
M
PL
E
Abbreviations Used in the Book
E
PL
M
*—Important keyword MCC—Most common cause
SA
AD—Autosomal dominant MC—Most common
AKA—Also known as MOA—Mechanism of action
AR—Autosomal recessive PR—Pulse rate
BU
BP—Blood pressure Rx—Treatment
C/b—Characterized by S/o—Suggestive of
BA
Ca—Cancer Sx—Surgery”
Cl/f—Clinical features USG—Ultrasound
CT—Computed tomography XLD—X-linked dominant
N
DD—Differential diagnosis XLR—X-linked recessive
U
HR—Heart rate
AR
)-
ER
AIIMS KEY NEET PG KEY JIPMER KEY AIIMS, NEET PG, and JIPMER Keys—for “frequently
asked one-liners in previous exams”
LT
CONTROVERSY
O
CLEARED
Controversy cleared—segment for “doubtful and controversial areas”
(W
E
PL
M
Foreword vii
SA
Preface ix
Contributors xi
Acknowledgments xiii
BU
Abbreviations Used in the Book xiv
Recurring Themes and Special Segments xiv
BA
Chapter 1 Growth, Development, and Behavioral Disorders 1
N
Chapter 2 Nutrition 48
U
Chapter 3 Fluid, Electrolytes, and Acid–Base Disturbances 85
AR
Chapter 4 Genetics 123
Chapter 5 Neonatology
)- 166
ER
Appendix 844
IA
D
E
Room temperature 6–8 hours* Drugs that can suppress
lactation
PL
Refrigerator 24 hours* yNicotine
Frozen 3 months* yOral pills
yThiazides
M
Advantages of breast milk yBromocriptine
yPyridoxine
SA
Content Use
Lactalbumin Rich in tryptophan—neurotransmitter
*Lactoferrin Ensures absorption of iron and makes it EXTRA EDGE
BU
unavailable for bacteria Indicators of adequate
Bacteriostatic, inhibits E.coli breastfeeding
yPassing plenty of pale urine
BA
LCP (long chain polyunsaturated Promotes brain growth and reduces dyslexia yPassing 1–6 liquid stools
fats) and hyperactivity per day
Ca: P > 2 Ensures Ca absorption yWeight gain
N
Binding proteins Binds thyroxine, B12, vitamin D
*BSSL (bile salt stimulated lipase) Kills amoeba and giardia
U
*PABA Protects against malaria AIIMS KEY
AR
Bifidus factor and acidic pH Colonization by lactobacillus bifidus
yBreast milk is a good
Ig A Surface protection to GIT and respiratory source of all vitamins
tract )- except Vitamin D and K
Bioactive factors Neurotransmitters, promotes growth
ER
Breastfeeding—good positioning vs attachment
AIIMS KEY
Good positioning Good attachment
yFatty acid present in
W
CNS development is
yBaby’s abdomen touching mothers yChin touching breast Docosahexaenoic acid*
KL
*Lactose 7g 4.5 g
EFA 13% 2%
O
Other procedures
IMAGE 16
yKaryotyping:
E
– Cells are cultured and cell division is arrested in prophase/metaphase and What is the most likely
then stained diagnosis of the picture
PL
– Trypsin: Giemsa stain is used to study G bands* shown below?
M
yMicroarray
SA
yWhole genome sequencing (WGS)
yWhole exome sequencing (WES)
– It targets the subset of the human genome that is protein coding
BU
A. Down syndrome
Gene therapy B. Pierre-robin syndrome
C. Noonan syndrome
BA
yTherapy includes the following: D. Williams syndrome
– Replacing a defective gene with a functional version syndrome
– Enhancing the baseline expression level of a gene Answer: B. Pierre Robin
N
– Suppressing the expression of genes that cause the pathologic process
U
EXTRA EDGE
AR
Chromosomal disorders
Enzyme replacement
Chromosome 1 Charcot–Marie–Tooth disease, Rh system, neuroblastoma, therapy available for:
NPHS -2 )- yGaucher disease
yPompe disease
Chromosome 2 Cystinuria, abetalipoproteinemia yFabry disease
Chromosome 3 RCC, von Hippel Lindau syndrome, alkaptonuria, orotic yMucopolysaccharidosis
ER
of thyroid)
Chromosome 11 Beta thalassemia, Wilms’ tumor, ataxia telangiectasia
Chromosome 12 Phenyketonuria, von Willebrand disease
LT
A. Cerebral palsy
syndrome, albinism B. Sturge–Weber syndrome
Chromosome 16 Alpha thalassemia C. Tuberous sclerosis
D. VHL disease
S
Answer: C. Tuberous
Chromosome 19 Myotonia dystrophica, Insulin receptor, NPHS -1
TR
yLeber’s congenital
syndrome amaurosis
PE
yMultiple myeloma
yAdenoleukodystrophy
yParkinson’s disease
ET
E
Adrenaline in neonatal
resuscitation
PL
yUsed in 1:10000 dilution
yIV dose: 0.01–0.03 mg/kg
yET dose: 0.05–0.1 mg/kg
M
SA
EXTRA EDGE
yPop off valve or pressure Self inflating bag Flow inflating bag T piece resuscitator
BU
release valve is a safety
valve set to release at
pressures exceeding Pressure to be applied while using Ambu bag
40 cm H2O*
BA
yInitial breath to expand fluid-filled alveoli—40 cm H2O
ySubsequent breaths: 15–20 cm H2O
N
NEET PG KEY FiO2 delivered by self-inflating bag
yApproximately 10% of yWhen used without O2 source or reservoir—21%
U
neonates require some
yWhen used with O2 source and without reservoir—40%
AR
resuscitation
yApproximately 1% yWhen used with O2 source and reservoir—90–100%
of neonates require Fish mouth valve: Opens when the bag is compressed to deliver air/oxygen to
extensive resuscitation the baby. During exhalation, it closes to prevent rebreathing.
)-
CONTROVERSY Neonatal resuscitation
ER
CLEARED
y10% of the babies require some form of resuscitation
As per NRP Update 2015, y<1% require extensive resuscitation (chest compressions, medications)
Routine tracheal suctioning yColor—not recommended as a useful indicator of oxygenation or effectiveness
W
yAmbu bag can be used without oxygen/air source but a ‘flow inflating bag’
EXTRA EDGE requires a compressed gas source
S
apnea
yPrimary apnea—revived yRoutine suction is NOT required. Secretions when excessive can be wiped
with tactile stimulation with cloth
ySecondary apnea—
LT
not revived by tactile ySuction pressure should not exceed 100 mmHg*
stimulation. Absent yRatio of chest compressions to ventilation—3:1 (120 events/1 minute)
respiratory efforts at
O
yImmediately after birth, preterm neonates < 32 weeks old should be completely
birth to be considered
as secondary apnea and
covered in a plastic wrap
(W
AIIMS KEY
is acceptable to discontinue resuscitation
yIn meconium-stained yBabies born out of meconium-stained amniotic fluid are said to be vigorous or
TR
liquor, the term nonvigorous at birth based on heart rate, respiratory efforts, and tone
“vigorous” baby is
based on tone, HR, and yEven nonvigorous baby need not be routinely intubated for tracheal suctioning
respiration and not color. at birth
IA
APGAR score
D
E
yMildly ill sounds intestinalis 7–10 days
yStage II B Acidosis, Same as Portal vein NPO, IV
PL
yModerately thrombocyto- above gas shadows antibiotics for
ill penia 14 days
M
Stage IIIA Respiratory Generalized Same + NPO, IV
Advanced distress, peritonitis definite antibiotics
SA
NEETPG KEY
ySeverely ill, metabolic and abscess for 14 days,
acidosis, tenderness resuscitation, Radiographic findings of
bowel intact
NEC
respiratory inotropic
BU
Stage IIIB yPneumatosis
acidosis, support, intestinalis—stage 2A
ySeverely NEC
DIC, laser therapy,
ill, bowel yPortal vein gas
BA
neutropenia paracentesis
perforated ± pneumatosis
Same as Same as Pneumoperi- Same as above intestinalis—stage 2B
above above toneum + surgery NEC
N
Sequelae: Strictures, fistula, short bowel syndrome, dumping syndrome,
malabsorption, chronic diarrhea
U
AR
Umbilical hernia
yFailure of closure of umbilical ring. Strangulation and obstruction are rare
)-
complications. Surgery required only after 2 years.
ER
Gastroschisis Omphalocele IMAGE 16
yFailure of migration and fusion of yFailure of midgut to return to the
the lateral folds of the embryonic abdominal cavity during early A 10-day-old 26-week
W
Cantrell
A. NEC stage II B
(W
B. NEC stage II A
C. NEC stage II B
D. NEC stage III
Diagnosis is NEC stage II A
S
E
Questions
PL
Renal physiology
M
C. Weight of child
1. Nephelometry is a technique used in the D. Height of child
SA
measurement of (Recent JIPMER) 8. In SCHWARTZ formula, calculation of creatinine
A. Refraction of light clearance in a child, the constant depends on the
following except: (Recent Question 2016)
BU
B. Immunoglobulins
A. Age
C. Size of renal stones
B. Method of estimation of creatinine
D. Optical density of fluids
BA
C. Mass
2. Which of the following will not decrease
Glomerular filtration rate (GFR)? (Recent Dec D. Severity of renal failure
Exam 2016) 9. Biomarker not involved in acute kidney injury is
N
A. Increased hydrostatic pressure in tubule (AllMS Nov 2013)
U
A. NGAL
B. Increased capillary oncotic pressure
AR
B. KIM-I
C. Hypoproteinemia
C. Micro RNA122
D. Mesangial cell contraction
D. Cystatin-C
3. Effective renal plasma flow (ERPF) is calculated )-
by (Recent Dec Exam 2016) 10. The GFR of a child does not approximate adult
values until the age of (Recent Question-2016)
ER
A. DTPA
A. 1st year of life
B. MAG 3
B. 5th year of life
C. Inulin
W
C. Myoglobin
C. Just before puberty
ER
C. 900–1000 mOsm/L
D. Half million D. 700–800 mOsm/L
Tests of renal function
S
Diagnostic imaging
6. Most sensitive marker of early GFR decline is
IC
7. Estimation of GFR in pediatrics by SCHWARTZ 14. Method of choice for a newborn child not passing
PE
formula includes all except (Recent Question 2015) urine for 36 hours is (AllMS May 95)
A. Serum creatinine A. Ultrasound of kidney and bladder
B. Age of child B. CT scan
ET
“The serum C3 level is significantly reduced in >90% A91. B. Hypophosphatemia (Nelson 20th ed/2496)
of patients in the acute phase and returns to normal yRhabdomyolysis is associated with myoglobinuria
6-8 week after onset.” (Ref: Nelson) and hypophosphatemia
E
“Renal biopsy should be considered only in the presence A92. C. IgA nephropathy (Nelson 20th ed/2497)
PL
of acute renal failure, nephrotic syndrome, absence A93. C. Renal vein thrombosis (Nelson 20th ed/2496)
of evidence of streptococcal infection, or normal
yExcept RVT, all other options causes
M
complement levels. In addition, renal biopsy is considered glomerulonephritis and proteinuria
when hematuria and proteinuria, diminished renal
SA
A94. D. Lupus nephritis (Nelson 20th ed/2504)
function, and/or a low C3 level persist more than
2 month after onset” (Ref: Nelson) A95. A. RBC cast (Nelson 20th ed/2498)
>> Serum triglyceride levels are increased in nephrotic A96. D. Hypercholesterolemia (Nelson 20th ed/2521)
BU
syndrome not in nephritis yHypercholesterolemia is seen in nephrotic
A81. B. Hemolytic uremic syndrome (Nelson 20th syndrome
A97. A. Acute G.N (Nelson 20th ed/2521)
BA
ed/2496)
Hemolytic uremic syndrome A98. A and D (Nelson 20th ed/2498)
yAcute onset. A99. C. Mild proteinuria, high hematuria, high ASO
N
yDoes not present with recurrent gross titer (Nelson 20th ed/2499)
hematuria A100. B. Not elevated (Nelson 20th ed/2498)
U
yClinical triad yASLO titers are elevated after pharyngeal
AR
– $FXWHUHQDOLQVXIÀFLHQF\ infection but only rarely after skin infection
– Microangiopathic hemolytic anemia A101. C. 6–8 weeks (Nelson 20th ed/2498)
– Thrombocytopenia A102. A. Epithelial humps (Nelson 20th ed/2498)
)-
A82. C. Lymphatic obstruction (Nelson 20th ed/2496) A103. C. Hypoalbuminemia (Nelson 20th ed/2499)
A83. C. Class 4 (Nelson 20th ed/2504)
ER
A104. B. Caused by non-group A hemolytic streptococci
yClass 4 (Diffuse nephritis) lupus nephritis is (Nelson 20th ed/2500)
the most common type and carries the worst A105. D. Bleeding diathesis (Nelson 20th ed/2501)
W
A85. A. Capillary wall thickening (Robbins 8th ed/918) yAccumulation of immune complexes containing
polymeric IgA1 in mesangial areas.
O
are seen by light microscopy as a “wire-loop” lesion. CD89 which is responsible for the formation of
Such wire loops are often found in both focal and diffuse circulating IgA complexes.
proliferative (class III or IV) lupus nephritis, which yThese complexes may be trapped by CD71
S
A88. A. Crescent formation (Robbins 8th ed/918) “IgA is deposited in the glomerular mesangium in
A89. A. >20% (Nelson 20th ed/2495) a distribution similar to that of IgA nephropathy.
A90. D. Rhabdomyolysis (Nelson 20th ed/2493) This has led to the concept that IgA nephropathy and
ET