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Fragile X

Back 1

Only carrier females can expand the premutation into fullmutation
Carrier males transmit premutations only to their daughters who become carrers with full mutations
Carrier Females transmit to sons and daugters:
Sons: bilateral macroorchidism
Daughters: may or may not have MR due to selective Xinact

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Genomic imprinting

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differing phenoptypes depending on maternal or paternal origin

Find out how it works

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Prader Willi

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Paternal Transmission - Genomic Imprinting
Hypogonadism, hypotonia, MR, uncontrolled appetite

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Angelman

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Maternal Transmission - Genomic Imprinting
Happy Puppet, MR, ataxia, seizure, inappropriate laughter

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Adult Polycystic Kidney Disease

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most frequent hereditary kidney disorder
Numerous bilateral cysts and destroy renal parenchyma

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Familial Hypercholesterolemia

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anomalies of receptors of LDL
decreased transport of LDL into cells
Earlier onset atherosclerosis, Xanthomas - yellow lesions filled with lipid laden macros

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Hereditary Hemorrhagic Telangiectasia

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Mormans in Utah
telangiectases if skin and mucous membranes and hemmorage from these lesions

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Hereditary Spherocytosis

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defects of erythrocycte membrane associated skeletal protein
Spheroidal Erythrocyctes, destroyed in spleen, hemolytic anemia

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Marfan

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defect of connective tissue, faulty scaffolding
deficiency of fibrillin

Arachnodactyly, ectopic lentis, aneuryism of proximal aorta, dissecting aneuryism of aorta, MVP

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Neurofibromatosis

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Mulitple neurofibromas on skin, Cafe au lait spots, Lisch nodules (iris hammartomas)

mutations in NF1 gene - tumor suppersor gene that codes for GTPase act pro (GAD) that converts active RAS into inactive RAS

Increased incidence of Wilms tumor, Leukemia, Rhabdomyosarcoma

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Tuberous Sclerosis

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glial nodules, distorted neurons in cortex

Seizures, MR, adenoma sebaceum (facial skin lesion consisting of malformed Bv and conn tiss)

Assoc: Rhabdomyomas, Renal angiomyoliposa

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Von Hippel Lindau disease

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Hemangioblastoma or Cavernous hemangioma of the cerebellum, brainstem, retina
adenomas, cysts of organs

Inc incid. of Renal Cell Carcinoma; gene - 3p

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Tay Sachs

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def of hexosaminidase A with consequent GM2 accum

CNS degeneration, blindness, cherry red spot in macula

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Gaucher

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def of glucocerebrosidase which causes accumlation glucocerebrosidase

Gaucher - enlarged histocyctes with "wrinkled tissue paper" cytoplasmic apperance

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Gaucher Type I

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adult, 80% of cases

hepatosplenomegaly, erosion of femoral head and of long bones, mild anemia

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Gaucher Type II

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infantile

severe CNS involvementm death before 1 yr age, no detectable glucocerebrosidase in tissues

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Gaucher Type III

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juvnile

less severe than type II, viscera, brain

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Niemann-Pick disease

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def pf sphingomyelinase with consequent sphingomylein accumlation

foamy histocyctes, hepatosplenomegaly,anemia, fever, half of pts with cherry red spot,

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Hurler syndrome

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mucopolysaccharidoses , def of alpha-L-iduronidase with accumlation of heparan sulfate and dermatan sulfate

progressive deterioration, hepatosplenomegaly, dwarfism, corneal clouding, MR

IS AR compared to Hunter with is X-linked Recc

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Von Gierke disease

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Type Idef of glucose 6 phosphate; glycogen accumalation in liver and kidney

Hepatomegaly and intractable hypoglycemia

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Pompe disease

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Type II
def of alpha 1,4 glucodiase with accumlation of glycogen in liver, heart, skeletal muscle


cardiomegaly, hypotonia, splenomegaly, intractable hypoglycemia

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Cori

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Type III
def of debranching enzyme amylo 1,6, glucosidase leading to variable accumlation of glycogen

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McArdle

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Type V
muscle phosphorylase def with glycogen accumlation in skeletal muscle

stunted growth, hepatomegaly, hypoglycemia

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Classic Galactosemia

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def of galatose 1 phosphate uridyl trandferase with accumlation of galactose 1 phosp

failure to thrive, infantile cataracts, MR, cirrohisis, death

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Galactokinase def galactosemia

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only infantile cataracts

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PKU

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mutaiton of phenylalanine hydroxlase, failure of conversion of Ph to tryosine

high serum conc of ph which cause progressive demylineation, also phenylpyruvic acid accumulate

progressive mental deteriotation, blond, blue eyed, musty odor, decreased pigmentation of hair, skin

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Alkaptonuria

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incomplete metabolism of ph and tyrosine, due to def of homogentisic oxidase

urine that turns black over time, ochronosis - dark pigmentation of cartilage and fibrous tissues, arthritis

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Maple Syrup Urine disease

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any number of defects that make up branched chain aplha keto acid dehydrogenase

MR, feeding problems, maple syrup urine, high urinary levels of valine, isoleucine, leucine

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CF

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CFTR gene on chr 7
malfunction of exocrine glands, increased viscosity of muscus, increased chloride conc

Pulmonary dis:
Pseudomonas Aeruginosa is common cause of death
Pancreatic insuff - malabsorption, steatorrhea
Meconium ileus - small bowel obs caused by thick viscous meconium

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Hunter

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less severe than Hurler

def of L iduronosulfate sulfatase with accumlations of heperan sulfate and dermatan sulfate

HPSM, micrognathia, retinal degeneration, joint stiffness, mild MR

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Fabry disease

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def of alpha-galactosidase A with accumlation of ceramide trihexoside

skin lesions (angiokeratomas) on lower trunk, burning pain, febrile episodes

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Classic Hemophilia (A)

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factor VIII gene

hemmorage from minor wounds, bleeding from oral mucosa , hematuria, hemarthoses

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Lesch Nyhan syndrome

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def of hypoxanthine-guanine phophoribosyltransferase (HGPRT) with impaired purine metabolism and excess uric acid

gout, self mutilation, aggressive beh, MR, choreoathetosis, spasticity

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Type I hypersensitivity

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IgE production from B cells which then binds to basophils and mast cells

Subsequent exposure, antigen reacts with bound IgE, then degranulation and histamine release and increases in vascular permeability and peripheral blood eosinophilia

Allergic or atopic reactions, ashtma, urticaria(hives)

Anaphylatic shock - rapid onset of urticaria, bronchospasm, laryngeal edema

Hereditary angioedema - def of C1 esterase inhibitor, serum C4 is low

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Type II hypersensitivity

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Complement fixing antibodies interact with integral component of target cells. Serum complement is decreases. Antigens are usually BM (Goodpasture) or blood cell mem(Warm antibody autoimmune hemolytic anemia, hemolytic disese of newborn, hemolytic transfusion reactions).

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Antibody dependent cell mediated cytotoxicity

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TypeII

antibody binds and Fc portion brings NK cells to kill

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Reaction of antireceptor antibodies with cell surface receptor

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(Type II) or Type V

Graves disease - thyroid stimulating Ig reacts with TSH receptors results in glandular hyperplasia and hyperthyroidism

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Type III

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Antigen Antibody complexes.
Antigen is not integral component of target cells
Hageman factor activated

Serum sickness, Arthus, SLE, polyartertisi nodisa, glomular diseses

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Type IV

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tuberculin reaction, contact dermatitis
Delayed Hypersensitivity
Tcell receptor of CD4 lymph reacts with antigen presented by macros with HLA class II

CTL

direct CD8 killin, HLA class I antigens

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Hyperacute rejection

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Antibody mediated, presence of prexisting antibodies to donor antigens, within minutes, localized Arthus reaction

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Acute rejection

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T cell mediated, days to months after

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Chronic rejection

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Antibody-mediated vascular damge, months to years after

marked vascykar fibrointimal proliferation causing small scarred kidney

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Graft vs Host

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in BM transplants or whole blood transplants in SCID

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Brutons Agammaglobunemia

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block of maturation of preB cells to B cells due to mutation of tyrosine kinase
Absence of plasma cells, absence of serm Ig, poorly defined germinal centers, recurrent bacterial infections

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IgA def

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inability of IgA Bcells to mature into plasma cells

occasional anaphhylatic reactions to transfused blood adn infections

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Common variable immunodef

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failure of terminal B cell maturation causing dec in number of plasma cells and hypogammaglobulemia

recurrent bacterial infections

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DiGeorge

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CATCH 22
congential T cell def
lymphopenia, recurrent viral and fungal infections, tetany from hypoparathyroidism with hypocalemia

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SCID

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marked def of both B and T cells

adenosine deaminase def(ADA def)

Sever infections, malignancy, FTT, GVHD, hypoplasia of thymus and lymphnodes

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Wiskott Aldrich

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poor antibody response to polysaccharide antigens

eczema, thrombocytopenia, recurrent infection

Xlinked, normal total IG

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Read about AIDS

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83

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SLE

Back 51

read about in 86

butterfly rash, ANA, raynaud phen, cotton wool lesions in eye

ANA - double stranded DNA - rim pattern
ANA - smith antigen
BFP with syphilis

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Progressive systemic sclerosis(scleoderma)

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widespread fibrosis, degenerative changes

ANA anti Scl 70
ANA with anticentromere act - CREST syn - Calcinosis, Raynaund, Esohageal dysfunction, Sclerodactyl, Telangiectasia

Hypertrohpy of collagen fibers of subcut tissue - fixed facial appearance, sclerodactyly raynaud phen,

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Sjogren

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traid of xerostomia, keratoconjuctivitis, and one of the serval connective tissue or AI disease (RA)

Sicca - xerostoma and kertoconj alone

involvement of salivary gland - bilaterally involved paratids
involvement of lacrimal gland
hypergammaglob, ANA - anti SSB

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Polymyositis

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chronic inflammatory process - proximal muscles of extremity

reddish, purplish rash over areas of face and neck - dermatomyositis

inc serum creatine kinase

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Mixed Connective tissue disorder

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renal involvement is uncommon

arthralgias, Raynaud, esophageal hypomotility, myositis

specfic ANA - anti rRNP high titer - speckled nuclear apperance

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Polyarteritis nodosa

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immune complex vasculitis, fibroinioid necorisis of small and medium arteries

Men

hep B or drugs

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Amyloid

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B pleated sheet config
extracellular, promimate to BM
Congo Red - apple green - birefringence

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Primary Amyloidosis

Back 58

derived from Ig light chains (AL protein)

amyloid deposition in heart, tongue, muscle
may involve kidney
asss with plasma cell disorders - MM, Wadenstrom

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Secondary Amyloidosis

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deposition of fibrils called AA protein

involves kidney, liver, adrenals, pan, LN, spleen (sago spleen)

complication of chronic inflammatory disorder like RA, TB, Osteomy, syphilis, leprosy

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Portuguese type of polyneurpathy

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amyloid derived from transthyretin - protein that transports thyroxine and retinol

severe peripheral nerve involvement due to amyloid deposits

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Alzheumer disease

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deposits of A4 amyloid or amyloid B portein
Chr 21

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Familial Mediterranean fever

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episodic fever, poly serositis, similar to secondary amyloidosis

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Medullary carcinoma of Thyroid

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amyloid deposits, derived from calcitonin

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DM

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deposits of amyloid in islet cells (amylin or IAPP)

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Senile amyloidosis

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minor deposits of amyloid found at autospy in elderly, dervied from transthyretin

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Dialysis associated amyloidosis

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deposits derived from Bmicroglobulin deposited in joints

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xeroderma pigmentosum

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failure of DNA excision repair

skin tumors

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Marasmus

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def of all nutrients

occurs with children less than 1yr old deprived of breast feeding

loss of muscle and fat, retarded growth

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Kwashiorkor

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protein def but with adequate calorie intake

retarted growth, muscle wasting but preservation of subcutaneous fat

Fatty liver, severe edema, Anemia, Malabs, Depigmented bands with pale streaking of hair

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Vitamin B1
(Thiamine)

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Dry BeriBeri - peripheral neuropathy iwth resultant atrophy of muscle

Wet BeriBeri - high output cardiac failure, peripheral dialtion of arterioles, AV shunting, hypervolemia, cardiac dilation

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Wernicke Korsakoff

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Thiamine def and alcoholism

degen changes in brain, hemorrhagic lesions of gray matter and mammillary bodies

confusion, ataxia, ophthalmoplegia (triad)
confabulation and memory loss

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Vitamin B12 def
(Riboflavin)

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chronic alcoholics

chelosis, glossitis, corneal vasculatization, seborrheic dermatitis

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Vitamin B3 def
(niacin)

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diet lack niacin and tryptophan

niacin comp of NAD and NADP

pellagram - 3Ds - dermatitis, dementia, diarrhea

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Vitamin B6 def

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convulsions in infants due to def GABA prod

Chronic alcoholism, INH (TB), homocystinuria, Pyridoxine responsive anemia

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Vitamin B12
(cobalmin)

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reductoin in DNA replication and cell division

megaloblastic anemia, prominent neurologic dysfunction

Caused by malabsorption - Pernicious Anemia - lack of IF to bring in this vitamin; or Chrohn, Dipphyllobothrium latum, blind loop syndrome

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Folic Acid def

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secondary to intestinal malabs

megaloblastic anemia, no neurologic changes

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Vitamin C

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defective formation of mesencymal tissue and osteoid matrix

impaired synthesis of hydroxyporline and hydroxylysine

defective collagen fibrillogenesis