Path 3 Child Flashcards
Cystic fibrosis inheritance
Autosomal recessive
Cystic fibrosis mutation
CFTR chloride channel
Cystic fibrosis effect
Sweat duct - Na/Cl can’t go in -> hypertonic sweat
Airway - Cl can’t leave, Na/H2O floods in -> dehydrated mucus
Cystic fibrosis lung infections (3)
S. Aureus
Pseudomonas
H. influenza
Cystic fibrosis non-lung
Sinusitis, nasal polyps, meconium ileus, pancreatitis, cholelithiasis
Cystic fibrosis male complication
CBAVD - congenital bilateral atrophy of vas deferens - infertility
Cystic fibrosis Dx
Sweat chloride test
-false negative with hyponatremia
Hemartoma
Normal cells, native location
-Common in lungs
Choristoma
Normal cells, abnormal location
Congenital capillary hemangioma
Benign, spontaneous regression
Sturge Weber syndrome
Facial nevi
Venous angioma in leptomeninges
Mental retardation
Pyogenic granuloma
Hemangioma on gums of pregnant women
Most common germ cell tumor of childhood
Sacrococcygeal teratoma
Neuroblastoma, retinoblastoma, Wilms tumor, Ewing sarcoma, medulloblastoma, rhabdomyosarcoma
Small blue cell tumor
Neuroblastoma
-3 locations
Neural crest cell blue tumor
- Adrenal medulla
- Sympathetic ganglia
- Mediastinum, retroperitoneum
