Pathology- Genetic Disorders

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Teratology

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the study of developmental abnormalities.
-teratonic agents:
- chemical
- physical
- biological

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etiology of developmental and genetic diseases

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-single gene defects
multifactorial
cytogenic
errors in morphognesis

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Single gene defects

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"mendelian disorders"
- most are hereditary. point mutation in which a singe nucleotide base is replaced by a different base.
-inherited: autosomal dominant, autosomal recessive, X-linked
may occur in a child without affected parent as known as spontaneoous mutation

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multifactorial (polygenic inheritance)

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most common group of disorders
ex: hypertension, diabetes, hypercholesterolemia

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chromosomal (cytogenic) abnormalities

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characterized by numeric or structural abnormalities in the chromosomed

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errors in morphogenesis

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-uterine or placental factor
-maternal factors
- environmental

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agenesis

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complete absence of an organ primordium
ex: acephaly

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aplasia

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absence of the organ w/ persistance of the organ analage or rudiment that never completely formed

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hypoplasia

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reduced size due to incomplete development

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dysraphic anomalies

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defects from failure to fuse

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involution defects

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defects due to the persistence of embryonic tissue that involutes at certain stages of development
Ex: tyroglossal tract cyst

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division failure

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defect caused by incomplete cleavage
ex: syndactyly

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atresia

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incomplete formation of the lumen
ex: esophageal atresia

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dysplasia

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abnormal organization of cells into tissues
Ex: tuberous sclerosis

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ectopia

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organs/tissues developed outside normal anatomic area
Ex: heart outside the chest cavity

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syndrome

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multiple anomalies that are pathogenetically related.
implies a single cause for anomalies in anatomically distant organs that have been damaged by the same effect during development

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genetic terms

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chromosome
gene- specific sequence of nucleotides located at a specific site on the DNA strand
trait- infomation on the gene
locus- location of the gene

** NO special genes reside on the Y chromosome.

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abnormalities in sex chromosomes

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1) turner's syndrome
2) kleinfelter's syndrome
3) super males
3) multiple X females

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Turner's syndrome

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45X, females
defective second X chromosome
-short stature, infertile, broad chest, heart defects, webbed necks, epicanthal folds, more than average pigmented moles

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kleinfelter's syndrome

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47 XXY males
extra female chromosome
risk increases with maternal age
-tall, large breasts, no facial hair, small testes, sterile, cells have barr bodies, taurodontism, jaw prognathism

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super males

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47 XYY
phenotypically normal but with antisocial behavior. 1/3 of inmate population have this characteristic.
tall, aggressive behavior, acne

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super female

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47 XXX, 48 XXXX, 49 XXXXX
cells have multiple barr bodies
-mental retardation, mentral defects, increased height, emotional immaturity, delayed speech skills.
-malocclusion, hypodontia, taurodontism, cleft palate, micorgnathia

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down syndrome

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Trisomy 21
-inc. risk with maternal age
-mental retardation, dementia, CHF, immunologic defects, leukemia inc., skeletal problems
- prominant forehead, large fontanelles, midface hypoplasia, broad lips, open mouth, protruding tongue, small oral cavity, reduced parotid saliva, peridontal disease,

simian crease, brushfield spots on eyes

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Autosomal Dominant disease

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-only one parent needs to have the gene
-children have a 50% chance of expressing the gene

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Tuberous sclerosis

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-autosomal dominant
-neurocutaneous disorder (seziures), hypopigmented areas, infantile spasms, renal cysts, cardiac rhabdomyomas, mental retardation, facial angiofibromas, gingival fibromas

dysplasia: abnormal organization of cells into tissues

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neurofibromatosis

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-autosomal dominant
-neurocutaneous disorder w/ seizures, hyperpigmented areas (cafe-au-lait macules), skin and mucosal neurofibromas with potential for malignancy, CNS neural tumors and optic gliomas, adrenal phenochromocytoma, Iris pigmented spots

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familial hypercholesterolemia

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-most frequent mendelian disorder
-autosomal dominant
-gene mutation
-loss of feedback, heterozygotes

clinical features:
-premature atherosclerosis, elevated plasma cholesterol, developmental xanthomas (fibrous deposits in joints), carotid plaques, juvenile corneal arcus (bilateral gray, white or yellow deposits in peripheral cornea)

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Autosomal recessive

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-if one one allele then it will NOT be manifested (CARRIER)
-if both alleles then you will have that recessive trait

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gaucher's disease

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-ashkenazic jews
-autosomal recessive
-defiency of glucocerebrosides w/ kerasin buildup in the reticuloendothelial system
-widely disseminated deposits of gaucher's cells in different systems

-hepatomegaly, bone lesion, pulmonary disease, CNS disorders, enlarged lymph nodes

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phenylketoneuria

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-autosomal recessive
-deficient in phenylalanine hydroxylase which nornally breaks down phenylalanine needed for protein synthesis.
-mental retardation (hyperphenylalanemia)

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albanism

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-autosomal recessive
-lack of tyrosine which is needed for melanin synthesis
-occular type (red iris)
oculucutaneous type (white hair and skin)
risk for cancer and for chediak-hiagashi syndrome

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cystic fibrosis

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-autosomal recessive disorder most common in whites
-defect in Cl-transport, characterized by abnormal viscid secretions and duct obstruction

-hyponatremia, dehydration, chronic pulmonary disease, abdominal pain, vitamin difiencies, retarded bone gorwth, delayed sexual development, nasal polyps, parotid disease

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X-linked dominant

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-only one disease producing allele needed for affected child to show characteristic.all females and males will show the disease

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x-linked recessive

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-two needed to prduce a daughter with the disease
-only one needed to produce a son with the disease because males only have 1 X

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tumors of infancy and childhood (benign)

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hamartoma- represent an excessive accumulation of cells that are normally found in a tissue but are arranged in an abnormal manner
Ex: hemangioma, cystic hygroma

choristoma or heterotopias- aggregates of normal tissue components in aberrent locations
Ex: osseous choristoma

teratoma- tumor derived from more than one or all embryonic layers
Ex: SC teratoma

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tumors effecting infancy and childhood (malignant)

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1) lymphoblastic leukemia
2) neuroblastoma
3) nephroblastomia
4) hepatoblastoma
5) retinoblastoma
6) rhabdomyscarcoma
7) teratoma
8) ependymoma