10.6.2013(pediatrics)33

Question 0

Mutation in dent disease

Answer 0

CLCN5(it encodes a proximal tubule Cl- channel)

Question 1

Mode of inheritance of dent disease

Answer 1

X linked recessive

Question 2

Diseases caused by CLCN5 defect

Answer 2

X linked recessive nephrolithiasis
X linked recessive hypophosphatemic rickets
Japanese idiopathic low molecular weight proteinuria
Dents disease

Question 3

Most common cause of respiratory failure in CF

Answer 3

Pseudomonas

Question 4

Initial infection in CF pts

Answer 4

Non mucoid strains of pseudomonas

Question 5

Most prevalent early pathogens in CF

Answer 5

H.influenzae
Pseudomonas
S.aureus

Question 6

Cepacia syndrome is caused by

Answer 6

B.multivorans

B.cenocapacia

Question 7

Cepacia syndrome

Answer 7

Fever
Uncontrolled bronchopneumonia
Weight loss
Death

Question 8

CFTR is located on

Answer 8

Chr7q

Question 9

Types of CFTR mutation

Answer 9

Class 1: No protein synthesis
Class 2: impaired mRNA processing
Class 3: defective regulation
Class 4: reduced conduction
Class 5: defective protein function

Question 10

Class of deltaF508 mutation

Answer 10

Class 2

Question 11

GIT effects of CF

Answer 11

Distal intestinal obstruction

Meconium illeus

Question 12

Reproductive effects of CF

Answer 12

Azoospermia

B/L absence of vas deferens

Question 13

Definition of steroid resistant nephrotic syndrome

Answer 13

2mg/kg/day of prednisolone for 4 wks,no remission

Question 14

Remission in nephrotic syndrome

Answer 14

Urine albumin nil or trace for 3 consecutive days

Question 15

Earliest x ray change in cystic fibrosis

Answer 15

Hyperinflation

Question 16

Panopacification of sinuses is seen in

Answer 16

CF

Question 17

Normal sweat chloride

Answer 17

<40

Question 18

Sweat cl level diagnostic of CF

Answer 18

> 60

Question 19

Newborn screening of CF

Answer 19

Immunoreactive trypsinogen (IRT) in blood

Question 20

Rx of CF

Answer 20

IVACAFTOR

CFTR potentiator

Question 21

IVACAFTOR is useful only for

Answer 21

Class IV mutations

Question 22

Renal lesions in steroid resistant nephrotic syndrome

Answer 22

30% minimal change
30% FSGS
small group of MPGN

Question 23

First choice for steroid resistant nephrotic syndrome

Answer 23

1. Tacrolimus

2. cyclosporine

Question 24

Mode of inheritance of familial glucocorticoid insufficiency

Answer 24

Autosomal recessive

Question 25

Wolman disease is due to

Answer 25

Acid lipase deficiency | Autosomal recessive

Question 26

Mild form of wolman disease

Answer 26

Cholesterol ester storage disease

Question 27

Rx of wolman disease

Answer 27

Statins

Question 28

Rubella virus belongs

Answer 28

Toga virus

Question 29

Risk of congenital malformation is high if rubella infection occurs within

Answer 29

9-12wks

Question 30

Rate of transmission of rubella is high in

Answer 30

First 4 post conception weeks

Question 31

Diagnosis of congenital rubella

Answer 31

IgG persisting more than 6months Or IgM

Question 32

Blue berry muffin rash is seen in

Answer 32

Congenital rubella syndrome | Neuroblastoma

Question 33

CVS abnormalities in congenital rubella syndrome

Answer 33

Peripheral pulmonary stenosis Pulmonary valve stenosis PDA

Question 34

Ocular abnormalities in congenital rubella syndrome

Answer 34

``` Cataract Corneal clouding Chorioretinitis Retinitis pigmentosa Microphthalmia ```

Question 35

Late manifestations of congenital rubella syndrome

Answer 35

``` 2months-2yrs Neurological : Autism Hypotonia MR Progressive rubella panencephalitis Sensorineural hearing loss Endocrine: DM hypo/hyperthyroidism Precocious puberty GH deficiency ```

Question 36

Gold standard for diagnosis of congenital rubella

Answer 36

Virus isolation from urine nasopharynx and CSF

Question 37

X ray findings in congenital rubella syndrome

Answer 37

Celery stalk lesions at end of femur and humerus

Question 38

Celery stalk metaphysis is found in

Answer 38

Congenital rubella Toxoplasmosis CMV Syphilis