General Pathology Lecture 3: Autosomal Recessive Single Gene Abnormalities

Do you need mutation from one or both parents for Autosomal Recessive Single Gene Abnormalities?

Both

What is the main pain caused by sickle cell anemia?

Bone pain from ischemia/infarct

What is the main symptom of the mouth caused by sickle cell anemia?

Osteoporotic lesions

How do osteoporotic lesions caused by sickle cell anemia appear on X-rays?

Radiolucent

What is the pathology of cystic fibrosis?

Impaired chloride anion secretion

What is produced in excess in cystic fibrosis?

Thick mucus

What are the two pulmonary conditions caused by cystic fibrosis?

1. Bronchiolitis

2. Bronchiectasis

What is the heart condition caused by cystic fibrosis?

Cor pulmonale

What is the pancreas condition in 85% of cystic fibrosis patients?

Chronic pancreatitis

What does the obstruction of the liver caused by cystic fibrosis lead to?

Secondary biliary cirrhosis

How does cystic fibrosis affect nails?

Clubbing

What diseases share some symptoms with cystic fibrosis?

Heart/lung/liver diseases

Despite the reduction of saliva, how does cystic fibrosis affect the teeth?

Reduced caries incidence

What is the disease related to salivary flow caused by cystic fibrosis?

Xerostomia

What is dental management issues caused by in treatment of cystic fibrosis?

Anti-rejection medication (Cyclosporine)

What are the three oral diseases that have increased risk during cystic fibrosis treatment?

1. Cancer

2. Gingival hyperplasia

3. Oral candidiasis

What does albinism increase the risk for?

Skin cancers

What is the pathology of ectodermal dysplasia?

Embryologic disturbance of ectoderm

What three conditions related to teeth are caused by ectodermal dysplasia?

1. Conical-shaped teeth

2. Hypodontia

3. Taurodontia

What are the two dental management methods for ectodermal dysplasia?

1. Implants

2. Dentures

How does ectodermal dysplasia affect hands and feet?

Defective nails

What does the body lack with lysosomal storage diseases?

Lysosomal enzymes

What are cells unable to do with lysosomal storage diseases?

Digest complex molecules

What can accumulate with lysosomal storage diseases?

Metabolites

What is the most common lysosomal storage disease?

Gaucher disease

What is the pathology of Gaucher disease?

Accumulation of lipids in gaucher cells

What is the main site of Gaucher disease?

Spleen

What is the main symptom of Type 1 Gaucher disease? (Most common)

Painless splenomegaly

What is the main symptom of Type 2 and 3 Gaucher disease?

Seizures

What disease risk is heavily increased with Type 2 and 3 Gaucher disease?

Parkinson's Disease

What is the pathology of Tay-Sachs disease?

Accumulation of complex lipids in brain

What are the two main features of Tay-Sachs disease?

1. Skeletal motor decline

2. Intellectual decline