Purine diseases Flashcards
Mechanism of ADA causing SCID
ada def –> inc dATP —-> dec act of ribophosph. reductase —–> decrease in replication —–> huge impact on lymphocytes especially T cells
Level of B cells in SCID
1000 - 4800 {normal}
b cells make up 10-20% of total lymohocytes
Primary treatment of ADA def
HSCT
SCID is a type of ____ recessive disease
X linked
Signs of SCID
Oral candidiasis
Chronic diarrhea
extensive rash
morbilliform rash due to graft versus host disease
Signs of SCID on Chest Xray
Absence of thymic shadow
What is measure for SCID on PCR
T cell receptor excision circles
Lymph Node Biopsy On Scid
Absence of Germinal Centres
Treatment of Scid
HSCT
Lesch Nyhan is a ____ recessive type of disease
X Linked
Which enzyme is deficient in LN
HGPRT
Lab test for LN
HGPRT levels
Inc urate to creatinine ratio
Hyperuricosuria
Hyperuricemia
1st line of treatment of lesch nyhan
Bone Marrow Transplant
2nd line of treatment of lesch nyhan
Febuxostal
inhibits xanthine oxidase and is non purine
How to treat kidney stones in HGPRT
Lithotripsy
high intensity acoustic pulses break stones
How to treat neurological and behavioral symptoms in LN
Benzodiazepines
baclofen for neurologican and gabapentin for behavorial
Orange sand deposits in diaper due to
Sodium urate crystal deposition
Failure to thrive, chronic diarrhea, and thrush are all classical presentations seen in a deficiency of (enzyme)
ADA
Adenosine deaminase deficiency is characterized by increased concentrations of adenosine and ________inside the cell.
deoxyadenosine
The most common neurologic manifestation of Lesch-Nyhan syndrome is
Dystonia
The gold standard for the diagnosis of Lesch-Nyhan syndrome is
Gene sequencing
The second line of treatment for adenosine deaminase deficiency if bone marrow transplantation is not available is ______
Gene therapy