Final Mix Flashcards
Lead poisoning
Inhibits Ferochelase and ALA dehydratase
^ ALA/ Protopophyrin
*Macrocytic anemia, Kidney dz
BASOPHILIC STIPPLING
Langerhans histocytosis
Birbeck granules (tennis racket)
Lytic bone lesion + rash and otitis media
Glanzman Thromboblasthenia
Decreased GpIIb/IIIa- aggregation defect
Hodgkins Lymphoma
Reed Steinberg cells
Continuous spread EBV associated
-Generally good prognosis
Prognosis better when Lymphocytes>Reed steinberg
Usually in younger or older
Fever, weight loss, night sweats,
Essential Fructosuria
Fructokinase D (AR)
Benign
fructose in urine
McArdle DZ
MYOPHOSPHORYLASE (skeletal M glycogen phosphorylase) D AR
*^ Muscle glycogen, painful muscle cramps and osmotic lysis of muscle cells with exercise.
*rare arrhythmias
Pompe DZ
Lysosmal alpha 1-4 Glucosidease D (AR)
*endsosomal glycogen deposits
*CARDIOMYOPATHY –>Death (heart)
*SYSTEMIC DISEASE –>Death (liver muscle)
Folate B9
Deficiency: Phenytoin, sulfonamides, MTX
*Increased cysteine with normal methylmmmalonyc acid
Glycolysis
PFK1
^AMP, F2-6P
v ATP, Citrate
De Novo Purine Synthesis
PRPP amidotransferase
v AMP, IMP, GMP
Minimal Change Dz
Nephrotic
LM-Normal
EM- Foot process effacement
*Kids
*infection, immunization etc.
*Hodgkins
TX: CORTICOSTEROIDS
Acute Intermittent Pophyria
Porphobilinogen Deaminase D causes ^ PORPHOBILINOGEN ,ALA, Coporhobilinogen
*Early Heme synthesis
*Painful abdomen, PORT WINE URINE- darkens on standing, Polyneuropathy, psychological
*PRECIPITATED BY DRUGS, ETOH, STARVATION TX: Glucose and HEME –IALA synthase
Irreversible enzymes of Gluconeogenesis
Pyruvate carboxylase
PEP carboxyKinase
F1-6Pase
G6Pase
Tay-Sachs disease
Hexosaminidase A D (AR) Buildup of GM2 GANGLIOSIDE
*Cherry red spot on macula,
ONION SKINNING of lysosomes
*Progressive neurodegeneration
DEATH BY AGE 4
Urea Cycle
Carbamoyl phosphate synthetase I
^ N-Acetyl glutamate
Diffuse Proliferative GN
SLE/MPGN “Wire looping” of capillaries
SubENDOthelial and intramembranous IgG with C3 deposition
NEPHROTIC OR NEPHRITIC
MOST COMMON CAUSE OF DEATH IN SLE
HUS
Hemolysis, uremia, thrombocytoopenia
Post EHEc common
Lysosomal Storage Diseases
I Cell DZ
Fabry
Gauchier
Niemann-Pick
Tay Sachs
Krabbe
Metachromatic leukodistrophy
Hurler syndrome
Hunter Syndrome
Von Gierke DZ
G6Pase D (AR)
*Severe fasting hypoglycemia
*^ Glycogen in liver/ HEPATOMEGALY
*^ Blood lactate
TX: Oral cornstarch and frequent feeding.
Avoid galactose and fructose
Membranous Nephropathy
Nephrotic LM- diffuse capillary and GBM thickening
IF- granular immune deposition
EM- Spike and Dome w/SUBEPITHELIAL deposits
*Most common 1ary caucasian nephrosis
*Anti-phospholipid A2 receptor
*HBV, HCV, SLE, TUMOR
RPCGN
Goodpasture Wegener’s GPA
Microscopic polyangiitis
Crescent moon shaped fibrin, protein, and leukocyte infiltration
Classic Galactosemia
Galac1P Uridyltransferase D (AR) causes ^GALACTITOL
*Infantile Cataracts
*Failure to thrive
*jaundice
*hepatomegaly
*intellectual Disability
TX: Exclude galactose and Lactose from diet
Kawasaki disease
Fever 4 days + CRASH - Conjunctivitis, Rash, Adenopathy, Strawbery tongue, Hands and feet.
*Necrotising vasculitis of medium arteries including coronaries (risk for aneurysm/thrombosis/rupture)
TX: IVIG and ASPIRIN
IL12R Deficiency
Decreased Th1- TB all the time (and fungal)
v IFN gamma (treat with supplemental)