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
Neuroblastoma Dx
Urine epinephrine metabolites - same as pheochromocytoma
- VMA (Vanillylmandelic acid)
- HVA (Homovanilic acid)
Neuroblastoma histo
Homer wright pseudorosettes
-Neurosecretory granules (EM)
Ganglioneuroma
Neuroblasts -> ganglion cells
-Schwannian stroma
Neuroblastoma bad prognosis
Nmyc amplification
-Telemorase
Retinoblastoma histo
Flexner-Wintersteiner rosettes (true, empty)
Retinoblastoma clinical
Leukocoria
Retinoblastoma association
Osteosarcoma
Wilm’s tumor clinical
Asymptomatic abdominal mass
Wilm’s tumor syndromes (3)
Denys-Drash
WAGR
Beckwith Wiedermann
Denys-Drash syndrome
- Male pseudohermaphroditism
- Early renal failure
- WT1 missense mutation
WAGR syndrome
Wilms tumor
Aniridia
Genitourinary abnormalities
Retardation (WT1)
Beckwith-Wiedemann syndrome
Organomegaly, macroglossia, omphalocele
- IGF overexpression
- Disorder in Ch 11 band 15.5 imprinting (WT2)
Genetic imprinting
Silencing
Wilm’s tumor micro
Nephrogenic rest precursor
- Blastema (small blue cells)
- Stroma
- Epithelium (tubules)
