|Alport’s Sd:||"hereditary nephritis", type IV collagen deficiency, alternating thickening & thinning of GBM, COL4A5 mutation, hearing loss, ocular abnormalities (lens & cornea), hematuria (gross or micro) since childhood.|
|Bruton’s Agammaglobulinemia:||btk gene defect, no mature B cells or plasma cells, low lymphoid tissue, hepatitis, enterovirus infxs, first 6 months protected by maternal ab (no symptoms)|
|Becker’s Muscular Dystrophy:||altered dystrophin gene, later onset than Duchene's, slow progression, relatively normal life span, less severe, rare cardiac involvement.|
|Chronic Granulomatose Disease (CGD):||NAPDH oxidase deficiency, recurrent catalase (+) infxs, nitroblue tetrazolium test negative (yellow)|
|Congenital Aqueductus Stenosis:||MCC of congenital obstructive hydrocephalus.|
|Color blindness (red-green):||can't distinguish shades of red and green (usually blue-green)|
|Duchene’s muscular Dystrophy:||dystrophin gene mutation (Xp21), absent dystrophyn protein, MC & severe of muscular dystrophies, normal until 5yo, short life span (<30yo), progressive muscle weakness, calf pseudohypertrophy, <3 failure, arrythmias, respiratory insufficiency and infxs (decreased mucociliary clearence). Pneumonias CC of death.|
|Fabry’s Disease:||alpha Galactosidase A, Ceramide trihexose accumulation, angiokeratomas, renal failure, peripheral neuropathy.|
|Glucose 6-P Dehydrogenase (G6PD) Deficiency:||chronic hemolytic anemia, MCC of enzymatic deficiency HA, Heinz bodies, bite cells. Triggers are infections, drugs (antimalarial), fava beans|
|Hemophilia A & B:||factor VIII & IX deficiency respectively. PTT prolongation.|
|Hunter Disease:||iduronate sulfatase deficiency, heparan sulfate accumulation, no corneal clouding, aggressive behaviour.|
|Inherited Nephrogenic Diabetes Insipidus:||V2 receptors in collecting duct don't respond to ADH.|
|Lesch-Nyhan Sd:||HGPRT1 deficiency, spastic cerebral palsy, self-mutilation, hyperuricemia, oral crystals in diapers, early death.|
|Menkes Disease:||ATP7A gene mutation (copper efflux protein), Cu+ is lysil oxidase cofactor, Cu+ accumulates in intestine & kidneys; deficient in other tissues = deficient collagen cross linking; steely 'kinky' hair, MR, arterial tortuosity, hypotonia.|
|Ornithine Transcarbamoylase Deficiency:||urea cycle, orotic aciduria + hyperammonemia (no megaloblastic anemia), orotic acid accumulation, increased glutamine . Cerebral edema, lethargy, vomiting, hyperventilation, convulsions, coma, death.|
|SCID:||IL-receptor, Gamma chain deficiency|
|Wiskott Aldrich Sd:||combined partial B & T immunodeficiency, IgM deficiency, thrombocytopenia, eczema.|
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Photo 2013 © Sven Torfinn
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