Purine diseases

Question 1

Mechanism of ADA causing SCID

Answer 1

ada def –> inc dATP —-> dec act of ribophosph. reductase —–> decrease in replication —–> huge impact on lymphocytes especially T cells

Question 2

Level of B cells in SCID

Answer 2

1000 - 4800 {normal}

b cells make up 10-20% of total lymohocytes

Question 3

Primary treatment of ADA def

Answer 3

HSCT

Question 4

SCID is a type of ____ recessive disease

Answer 4

X linked

Question 5

Signs of SCID

Answer 5

Oral candidiasis
Chronic diarrhea
extensive rash
morbilliform rash due to graft versus host disease

Question 6

Signs of SCID on Chest Xray

Answer 6

Absence of thymic shadow

Question 7

What is measure for SCID on PCR

Answer 7

T cell receptor excision circles

Question 8

Lymph Node Biopsy On Scid

Answer 8

Absence of Germinal Centres

Question 9

Treatment of Scid

Answer 9

HSCT

Question 10

Lesch Nyhan is a ____ recessive type of disease

Answer 10

X Linked

Question 11

Which enzyme is deficient in LN

Answer 11

HGPRT

Question 12

Lab test for LN

Answer 12

HGPRT levels
Inc urate to creatinine ratio
Hyperuricosuria
Hyperuricemia

Question 13

1st line of treatment of lesch nyhan

Answer 13

Bone Marrow Transplant

Question 14

2nd line of treatment of lesch nyhan

Answer 14

Febuxostal

inhibits xanthine oxidase and is non purine

Question 15

How to treat kidney stones in HGPRT

Answer 15

Lithotripsy

high intensity acoustic pulses break stones

Question 16

How to treat neurological and behavioral symptoms in LN

Answer 16

Benzodiazepines

baclofen for neurologican and gabapentin for behavorial

Question 17

Orange sand deposits in diaper due to

Answer 17

Sodium urate crystal deposition

Question 18

Failure to thrive, chronic diarrhea, and thrush are all classical presentations seen in a deficiency of (enzyme)

Answer 18

ADA

Question 19

Adenosine deaminase deficiency is characterized by increased concentrations of adenosine and ________inside the cell.

Answer 19

deoxyadenosine

Question 20

The most common neurologic manifestation of Lesch-Nyhan syndrome is

Answer 20

Dystonia

Question 21

The gold standard for the diagnosis of Lesch-Nyhan syndrome is

Answer 21

Gene sequencing

Question 22

The second line of treatment for adenosine deaminase deficiency if bone marrow transplantation is not available is ______

Answer 22

Gene therapy