HIV and turner's syndrome Flashcards
What is HIV?
Virus that infects and disables host CD4 cell funciton
What is the aetiology of HIV?
· Vertical: 75%, in utero, perinatally or via breastfeed.
· Sexual: Abuse in children, intercourse in adolescents.
· IV drug: rare in children
What is the epidemiology of HIV?
2 million children worldwide have aids. 90% of these are in subsaharan africa.
What would you find in the history and exam of a child with HIV?
General: Failure to thrive
Infections:
· Recurrent bacterial and viral infections
· Opporutnistic infections (PCP)
· Oral candidiasis: white yellow plaques and loss of tongue papillae
· HSV infection, labialis, gingivostomatitis, oesophagitis, skin lesions.
· VSV: recurrent or severe infection
· HPV: flat warts covering large areas of body
· Fungal infections: tinea capitis, usually resistant to tx.
Neoplasms: B cell lymphoproliferative neoplasm most likely.
What investigations would you do for HIV?
Neonatal bloods: HIV serology and DNA PCR to diagnose before Arv prophylaxis recommended. Repeat bloods at 6w, 3m and continous serology until >18m when maternal Ab disappear.
Confirm test: HIV RNA PCR, CD44 count, baseline resistance screen.
Endoscopy if oesophageal candidiasis, screen for other disease i.e. TB, HepB/C, TORCHS
What is the management of HIV?
Prevention: without prevention 40% children will inherit HIV. All pregnant women should be screend for HIV and HB/C. Mothers with HIV should not breastfeed (risk 40%). Reduce maternal viral load with triple therapy, reduces transmission to 5%. Elective C section to avoid contact in the birth canal, reduces to under 1%. Empirical ARV post natally.
Prophylaxis: Cotrimoxazole vs PCP, routine immunisation but NO LIVE VACCINES except MMR. Screen for infection regulatly. Regular monitor and F/U, starting HAART triple therapy (ZDVDine/NEVIRAPINE/INDINAVIR)
What are the complications and prognosis of HIV?
Drugs SE (myelosuppression). Untreated, 25% children develop AIDS in 1st year.
What is Turner’s syndrome?
Genetic defect in females resulting from complete or partial absence of X chromosme
What is the aetiology of Turner’s syndrome?
Classic TS is 45XO. Mosaic may be 46XX/45XO or rarely 46XY/45XO. SHOX1 gene most likely implicated in phenotype.
Most usfer from CD and UC (IBD).
What is the epidemiology of Turner’s syndrome?
1/2500 females.
What may you find in the history of turner’s syndrome?
High incidence of spontaneous abortions. Swollen hands and feet at birth. Signs of ovarian failure (amenhorrea, infertility). Short stature.
What may you find in the examination of turner’s syndrome?
General: 95% short stature, uually present aftr 4y as drop off curve. (ovaries involute)
Congenital: heart defects in 20%, CoA, HLH syndrome, horseshoe kidneys, ovarian dysgenesis.
Physical signs: Neonatal lymphodema of hands and feet and cutis laxa. Wide spaced angle, broad chest with wide spaced nipples, hypoplastic or hyperconvex nails, strabismus, ambylopia and short 4th metacarpal.
What investigations would you do for Turner’s syndrome?
Antenatal: picked up on USS due to nuchal fold or kidney/heart defects, offer karyotype of ACT/CVS.
Chromosomal studies in newborn to confirm. Differentiate from Noonan syndrome (Similar presentation).
Bloods: very high LH/FSH due to ovarian failure.
What is the management of Turner’s syndrome?
Surgical: heart and kidney defects. High risk of keloid formation. Grommets for otitis my be required. Removal of gonads (50% malignancy rate)
Hormonal tx: GH from mid childhood may help attain final heights, oestrogen replacement therapy for II sexual characteristics development.
What are the complications of Turner’s syndrome?
CMX: infertility, Y chromosome presence -> gonadoblaatoma risk, aotic dissection, hearing loss, DM, HTN, osteoporosis. Good prognosis but 10y life expectancy lower than normal.
