Congenital Disorders Flashcards
What is glucose-6-phosphate dehydrogenase deficiency?
An inherited condition in which patients lack the ability to tolerate biochemical oxidative stress leading to RBC haemolysis
What are the key diagnostic factors for glucose-6-phosphate dehydrogenase deficiency?
- Jaundice
- Pallor
- Dark urine
- Nausea
What are the risk factors for glucose-6-phosphate dehydrogenase deficiency?
- Male
- Mediterranean, sub-Saharan Africa, Middle East or Southeast Asian ethnicity
- Recent exposure to oxidative drugs
- Recent exposure to bro`ad beans
What is IgA vasculitis also known as?
Henoch-Schonlein purpura (HSP)
What is IgA vasculitis?
An autoimmune condition where IgA and IgA-containing immune complexes are deposited in tissue and affected organs
When does IgA vasculitis typically present?
After a viral or bacterial upper respiratory tract infection, especially streptococcal infections in boys 2-10 years of age
What is the clinical presentation of IgA vasculitis?
- Non-blanching, purpuric rash typically on legs and buttocks
- Arthralgia
- Abdominal pain
- Signs of renal disease
What is the inheritance pattern for autism?
Complex polygenic
